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Sample records for idiopathic epilepsy caused

  1. Idiopathic focal epilepsies: the "lost tribe".

    PubMed

    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

  2. What Causes Idiopathic Pulmonary Fibrosis?

    MedlinePlus

    ... the NHLBI on Twitter. What Causes Idiopathic Pulmonary Fibrosis? Sometimes doctors can find out what is causing pulmonary fibrosis (lung scarring). For example, exposure to environmental pollutants ...

  3. Gastaut type idiopathic childhood occipital epilepsy.

    PubMed

    Ferrari-Marinho, Taissa; Macedo, Eugenia Fialho; Costa Neves, Rafael Scarpa; Costa, Lívia Vianez; Tudesco, Ivanda S S; Carvalho, Kelly C; Carrete, Henrique; Caboclo, Luis Otavio; Yacubian, Elza Marcia; Hamad, Ana Paula

    2013-03-01

    Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non-visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation-off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms and sudden appearance of low-voltage, occipital, fast rhythm and/or spikes. Despite well described clinical and EEG patterns, to our knowledge, there are very few reports in the literature with video-EEG recording of either seizure semiology or fixation-off phenomena. We present a video-EEG recording of a 12-year-old girl with Gastaut type epilepsy, illustrating the interictal and ictal aspects of this syndrome. Our aim was to demonstrate the clinical and neurophysiological pattern of a typical seizure of Gastaut type epilepsy, as well as the fixation-off phenomena, in order to further clarify the typical presentation of this syndrome. [Published with video sequences].

  4. Retrospective clinical comparison of idiopathic versus symptomatic epilepsy in 240 dogs with seizures.

    PubMed

    Pákozdy, Akos; Leschnik, Michael; Tichy, Alexander G; Thalhammer, Johann G

    2008-12-01

    In the present study, 240 cases of dogs with seizures were analysed retrospectively. The aim was to examine the underlying aetiology and to compare primary or idiopathic epilepsy (IE) with symptomatic epilepsy (SE) concerning signalment, history, ictal pattern, clinical and neurological findings. The diagnosis of symptomatic epilepsy was based on confirmed pathological changes in haematology, serum biochemistry, cerebrospinal fluid (CSF) analysis and morphological changes of the brain by CT/MRI or histopathological examination. Seizure aetiologies were classified as idiopathic epilepsy (IE, n = 115) and symptomatic epilepsy (SE, n = 125). Symptomatic epilepsy was mainly caused by intracranial neoplasia (39) and encephalitis (23). The following variables showed significant difference between the IE and SE group: age, body weight, presence of partial seizures, cluster seizures, status epilepticus, ictal vocalisation and neurological deficits. In 48% of the cases, seizures were found to be due to IE, while 16% were due to intracranial neoplasia and 10% to encephalitis. Status epilepticus, cluster seizures, partial seizures, vocalisation during seizure and impaired neurological status were more readily seen with symptomatic epilepsy. If the first seizure occurred between one and five years of age or the seizures occurred during resting condition, the diagnosis was more likely IE than SE.

  5. Prevalence and characteristics of visual aura in idiopathic generalized epilepsy.

    PubMed

    Gungor-Tuncer, Ozlem; Baykan, Betul; Altindag, Ebru; Bebek, Nerses; Gurses, Candan; Gokyigit, Aysen

    2012-12-01

    Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients. Among the 176 IGE patients, 4 men and 7 women reported visual auras (mean age - 24 years). Syndromic diagnoses were juvenile myoclonic epilepsy in four, eyelid myoclonia with absences (EMA) in three, juvenile absence epilepsy in three, and other in one. Visual auras consisted of flashing lights, macropsia, illusional movements, and blindness. Eyelid myoclonia with absences was significantly more common in the group with visual aura (3 of 11 patients vs. 8 of 165 IGE patients; P=0.02). Furthermore, photosensitivity was found significantly more common in IGE patients with visual aura (90% vs 46% of the total IGE patients) (P=0.004). In conclusion, the visual auras do not exclude a diagnosis of IGE. The presence of visual aura in the EMA syndrome is also remarkable.

  6. Treatment with gabapentin of 11 dogs with refractory idiopathic epilepsy.

    PubMed

    Platt, S R; Adams, V; Garosi, L S; Abramson, C J; Penderis, J; De Stefani, A; Matiasek, L

    Eleven dogs diagnosed with refractory idiopathic epilepsy were treated orally with gabapentin for a minimum of three months at an initial dose of 10 mg/kg every eight hours. They were all experiencing episodes of generalised tonic-clonic seizures and had been treated chronically with a combination of phenobarbital and potassium bromide at doses sufficient to reach acceptable therapeutic serum levels without causing significant side effects. In each dog, the number of seizures per week, the average duration of the seizures and the number of days on which seizures occurred were compared for the three months before and after they were treated with gabapentin. A minimum 50 per cent reduction in the number of seizures per week was interpreted as a positive response to gabapentin, and six of the dogs showed a positive response. After the addition of gabapentin, both the number of seizures per week (P= 0.005) and the number of days with any seizures in a one-week period (P=0.03) were significantly reduced. Mild side effects of ataxia and sedation were observed in five of the dogs, but they were not severe enough to warrant the treatment being discontinued during the trial.

  7. Behavior and social competency in idiopathic and cryptogenic childhood epilepsy.

    PubMed

    Berg, Anne T; Vickrey, Barbara G; Testa, Francine M; Levy, Susan R; Shinnar, Shlomo; DiMario, Francis

    2007-07-01

    Behavioral and related disorders are frequently reported in association with childhood epilepsy but the reasons for this are unclear. In a long-term prospective, community-based study of newly-diagnosed childhood epilepsy, behavioral assessments (Child Behavior Checklist) were performed in children 8 to 9 years after the initial diagnosis of epilepsy to determine the impact of remission and medication status on behavioral problems. Children with epilepsy were also compared with sibling controls. A total of 226 children (108 females, 118 males; mean age 13y 1mo [SD 2y 8mo], range 8-17y) with idiopathic or cryptogenic epilepsy were included in the analyses. One hundred and twenty-eight matched pairs were included in analyses of case-sibling differences. Lack of remission and current medication use were associated with worse behavioral problem and competency scores. Lack of remission generally had a greater effect than medication use, except for attention problems; medication status had the more deleterious effect (p<0.001). Children with epilepsy had significantly worse behavioral problems and competency scores relative to sibling controls. Even in paris in which the patient was seizure-free and off medication, significant case-sibling differences persisted for most scales (p=0.05 to p=0.001). Lack of remission and continued use of antiepileptic drugs have a negative influence on behavioral problems in children with epilepsy but do not fully explain the worse scores relative to siblings. This suggests an independent effect associated with the epilepsy itself.

  8. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases

    PubMed Central

    Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

    2015-01-01

    Study Objectives: The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Methods and Results: Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Conclusions: Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. Citation: Baiardi S, Vandi S, Pizza F, Alvisi L, Toscani L, Zambrelli E, Tinuper P, Mayer G, Plazzi G. Narcolepsy type 1 and

  9. Risk factors for cluster seizures in canine idiopathic epilepsy.

    PubMed

    Packer, Rowena M A; Shihab, Nadia K; Torres, Bruno B J; Volk, Holger A

    2016-04-01

    Cluster seizures (CS), two or more seizures within a 24-hour period, are reported in 38-77% of dogs with idiopathic epilepsy (IE). Negative outcomes associated with CS include a reduced likelihood of achieving seizure freedom, decreased survival time and increased likelihood of euthanasia. Previous studies have found factors including breed, sex and neuter status are associated with CS in dogs with IE; however, only one UK study in a multi-breed study of CS in IE patients exists to the author's knowledge, and thus further data is required to confirm these results. Data from 384 dogs treated at a multi-breed canine specific epilepsy clinic were retrospectively collected from electronic patient records. 384 dogs were included in the study, of which nearly half had a history of CS (49.1%). Dogs with a history of CS had a younger age at onset than those without (p = 0.033). In a multivariate model, three variables predicted risk of CS: a history of status epilepticus (p = 0.047), age at seizure onset (p = 0.066) and breed (German Shepherd Dog) (p < 0.001). Dogs with a history of status epilepticus and dogs with an older age at seizure onset were less likely to be affected by cluster seizures. German Shepherd Dogs (71% experiencing CS) were significantly more likely to suffer from CS compared to Labrador Retrievers (25%) (p < 0.001). There was no association between sex, neuter status, body size and CS. Further studies into the pathophysiology and genetics of CS are required to further understand this phenomenon.

  10. Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy

    SciTech Connect

    Roussear, M.; Lopes-Cendes, I.; Berkovic, S.F.

    1994-09-01

    To identify the disease gene in a large, multiplex family segregating an autosomal dominant form of idiopathic generalized epilepsy (IGE). The IGEs have been recognized for several decades as being genetically determined. However, large pedigrees with a clear Mendelian inheritance are not commonly available. This, and the presence of locus heterogeneity have been obstacles to the identification of linkage in several IGE syndromes. We have identified a large IGE kindred with fifty-eight living individuals, including 26 affecteds, showing a clear autosomal dominant inheritance with incomplete penetrance. Forty-fur informative individuals, including 23 affecteds, were selected for the linkage studies. We have chosen 200 polymorphic microsatellite markers, about 20 cM apart, throughout the human autosomes as a genome-search linkage strategy. To date, 47 markers, representing 30% of the human genome, have been excluded for linkage in the Australian kindred. As our study progresses, we will report up-to-date results.

  11. Levetiracetam in the treatment of idiopathic generalized epilepsies.

    PubMed

    Grünewald, Richard

    2005-01-01

    Since its introduction into clinical practice in 1999, levetiracetam, the S enantiomer of piracetam, has rapidly found a secure place, initially in the therapy of partial onset seizures and subsequently in the treatment of idiopathic generalized epilepsies (IGE). It has many of the properties of an "ideal" antiepileptic drug, including rapid absorption, linear pharmokinetics, and sparse drug interactions. Tolerabiliy is generally excellent in both adults and children, although tiredness is a common dose-limiting adverse effect. Occasionally the drug can precipitate behavioral abnormalities, especially in patients with learning disability. There is a wide safety margin in overdose. In common with most antiepileptic drugs its mode of action remains uncertain. Levetiracetam binds to a specific site in the brain, influences intracellular calcium currents and reverses negative allosteric modulators of GABA- and glycine-gated currents in vitro. Its effectiveness has been demonstrated in animal models of epilepsy and in clinical trials of partial onset and IGE. Treatment of IGEs may be straightforward, with many patients demonstrating an excellent and robust response to valproate monotherapy. However, there remains a significant minority of patients for whom valproate is unsuitable, including those who experience unacceptable adverse effects (e.g., weight gain or hair loss) and women of childbearing age in whom the teratogenic potential of valproate is unacceptable. Therapeutic response to lamotrigine in this group is often disappointing, and many clinicians now are turning to the choice of levetiracetam. Efficacy in generalized tonic-clonic seizures and myoclonus is usually apparent and some patients experience improvement in typical absences. Experience of combinations of levetiracetam with other antiepileptic drugs is limited in IGE and the responses are largely anecdotal. In our hands, patients with refractory IGEs may respond to combinations of levetiracetam with

  12. Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.

    PubMed

    Lichter-Peled, Anat; Polani, Sagi; Stanyon, Roscoe; Rocchi, Mariano; Kahila Bar-Gal, Gila

    2013-04-01

    Juvenile idiopathic epilepsy (JIE) in Arabian foals resembles benign-familial neonatal convulsion (BFNC) syndrome, a rare idiopathic epilepsy of new-born humans. BFNC syndrome exhibits genetic heterogeneity, as has been hypothesised to occur in Arabian foals, and is known to be caused by mutations in the voltage-gated potassium channel subunit KCNQ2 and KCNQ3 genes. The close phenotypic characteristics of both Arabian foals and children suggest these epileptic syndromes are caused by the same genetic disorder. In horses, the KCNQ2 and KCNQ3 genes are located on the terminal region of chromosomes 22 and 9, respectively, essentially homologous to their location on chromosomes 20q13.3 and 8q24 in humans. Gene trees for the KCNQ2 and KCNQ3 genes between horses and other mammals, particularly humans and mice, were constructed and compared to widely accepted mammalian phylogenetic trees. The KCNQ2 gene tree exhibited close clustering between horses and humans, relative to horses and mice, in contrast to the evolutionary trees of other mammals. Distance values between the horse and human groups were lower as opposed to those found between the horse and mouse groups. The similarity between the horse and the human, especially for the KCNQ2 gene, where the majority of mutations causing BFNC have been found, supports the hypothesis of similar heritable and genetic patterns of the disease in both species and suggests that contrary to the classic mouse-model concept, humans may be a more suitable model for the study of JIE in Arabian foals.

  13. Fixation-off sensitivity in idiopathic childhood occipital epilepsy of Gastaut.

    PubMed

    Jain, Puneet; Sharma, Suvasini; Patra, Bijoy; Aneja, Satinder

    2015-04-01

    A 7-year-old boy presented with episodic blindness for the last 2 months with occipital paroxysms and fixation-off sensitivity on electroencephalography (EEG). The clinico-EEG features were suggestive of idiopathic childhood occipital epilepsy of Gastaut. The interesting phenomenon of fixation-off sensitivity is discussed.

  14. Epilepsy

    MedlinePlus

    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters ... may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, ...

  15. Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.

    PubMed

    Dejanovic, Borislav; Lal, Dennis; Catarino, Claudia B; Arjune, Sita; Belaidi, Abdel A; Trucks, Holger; Vollmar, Christian; Surges, Rainer; Kunz, Wolfram S; Motameny, Susanne; Altmüller, Janine; Köhler, Anna; Neubauer, Bernd A; Epicure Consortium; Nürnberg, Peter; Noachtar, Soheyl; Schwarz, Günter; Sander, Thomas

    2014-07-01

    Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and γ-aminobutyric acid type-A receptors (GABAARs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis. Recently, exonic microdeletions in the gephyrin (GPHN) gene have been associated with neurodevelopmental disorders including autism spectrum disorder, schizophrenia and epileptic seizures. Here we report the identification of novel exonic GPHN microdeletions in two patients with idiopathic generalized epilepsy (IGE), representing the most common group of genetically determined epilepsies. The identified GPHN microdeletions involve exons 5-9 (Δ5-9) and 2-3 (Δ2-3), both affecting the gephyrin G-domain. Molecular characterization of the GPHN Δ5-9 variant demonstrated that it perturbs the clustering of regular gephyrin at inhibitory synapses in cultured mouse hippocampal neurons in a dominant-negative manner, resulting in a significant loss of γ2-subunit containing GABAARs. GPHN Δ2-3 causes a frameshift resulting in a premature stop codon (p.V22Gfs*7) leading to haplo-insufficiency of the gene. Our results demonstrate that structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission.

  16. Behavior and Social Competency in Idiopathic and Cryptogenic Childhood Epilepsy

    ERIC Educational Resources Information Center

    Berg, Anne T.; Vickrey, Barbara G.; Testa, Francine M.; Levy, Susan R.; Shinnar, Shlomo; DiMario, Francis

    2007-01-01

    Behavioral and related disorders are frequently reported in association with childhood epilepsy but the reasons for this are unclear. In a long-term prospective, community-based study of newly-diagnosed childhood epilepsy, behavioral assessments (Child Behavior Checklist) were performed in children 8 to 9 years after the initial diagnosis of…

  17. Altered functional-structural coupling of large-scale brain networks in idiopathic generalized epilepsy.

    PubMed

    Zhang, Zhiqiang; Liao, Wei; Chen, Huafu; Mantini, Dante; Ding, Ju-Rong; Xu, Qiang; Wang, Zhengge; Yuan, Cuiping; Chen, Guanghui; Jiao, Qing; Lu, Guangming

    2011-10-01

    The human brain is a large-scale integrated network in the functional and structural domain. Graph theoretical analysis provides a novel framework for analysing such complex networks. While previous neuroimaging studies have uncovered abnormalities in several specific brain networks in patients with idiopathic generalized epilepsy characterized by tonic-clonic seizures, little is known about changes in whole-brain functional and structural connectivity networks. Regarding functional and structural connectivity, networks are intimately related and share common small-world topological features. We predict that patients with idiopathic generalized epilepsy would exhibit a decoupling between functional and structural networks. In this study, 26 patients with idiopathic generalized epilepsy characterized by tonic-clonic seizures and 26 age- and sex-matched healthy controls were recruited. Resting-state functional magnetic resonance imaging signal correlations and diffusion tensor image tractography were used to generate functional and structural connectivity networks. Graph theoretical analysis revealed that the patients lost optimal topological organization in both functional and structural connectivity networks. Moreover, the patients showed significant increases in nodal topological characteristics in several cortical and subcortical regions, including mesial frontal cortex, putamen, thalamus and amygdala relative to controls, supporting the hypothesis that regions playing important roles in the pathogenesis of epilepsy may display abnormal hub properties in network analysis. Relative to controls, patients showed further decreases in nodal topological characteristics in areas of the default mode network, such as the posterior cingulate gyrus and inferior temporal gyrus. Most importantly, the degree of coupling between functional and structural connectivity networks was decreased, and exhibited a negative correlation with epilepsy duration in patients. Our findings

  18. [Persistence of point-waves in the encephalogram (EEG) in idiopathic generalized epilepsy and therapeutic decisions].

    PubMed

    Pedespan, J M; Brissaud, O; Loiseau, P

    1998-07-01

    We reviewed the literature on the following issues in idiopathic generalized epilepsy, is there a correlation between the persistence of seizures and electroencephalographic anomalies? Do point-waves observed in well-controlled patients constitute a factor predicting relapse? Do changes in paroxysmal anomalies during the disease course mean poor prognosis? Actually, there is very little literature on these issues and some disagreement in those data which have been published. Documented studies have been conducted in search of factors predicting relapse at treatment withdrawal, but little has been published concerning the role of the EEG. Few studies specifically mention idiopathic generalized epilepsy. In terms of the syndrome studied, they concern heterogeneous groups of patients. Generally, it is accepted that the EEG helps predict clinical course in idiopathic generalized epilepsy as it does in other epilepsies, given the characteristic EEG signs. This is true in patients under treatment and after treatment withdrawal. Risk errors were not however reported. II would appear reasonable to assume that no one EEG anomaly is determinant outside the clinical context.

  19. Lymphoedema caused by idiopathic lymphatic thrombus.

    PubMed

    Hara, Hisako; Mihara, Makoto; Seki, Yukio; Koshima, Isao

    2013-12-01

    Primary lymphoedema includes some diseases whose genetic anomaly is detected and others whose pathology is unknown. In this article, we report a lymphatic thrombus found in a limb with lymphoedema during lymphatico-venous anastomosis (LVA). A 32-year-old man was aware of oedema in his left calcar pedis 3 years previously, which appeared without any trigger. Indocyanine green lymphography indicated lymphatic stasis in the left calf and thigh region, and we performed LVA for the patient. During the operation, we found yellow vessels, which were thought to be lymphatic vessels filled with a yellow solid substance, just beneath the superficial fascia at the left ankle. Pathological examination of the thrombi revealed hyaline material mixed with cell components. The cells were categorised as lymphatic endothelial cells, as they were positive for podoplanin. There was no evidence of malignancy. Causes of idiopathic lymphatic thrombus such as this may be one of the causes of so-called primary lymphoedema, and evaluation of such cases may be the first step towards elucidating the mechanisms involved in the development of primary lymphoedema.

  20. Evaluation of quality of life of carers of Italian spinoni with idiopathic epilepsy

    PubMed Central

    De Risio, Luisa; Freeman, Julia; Shea, Anita

    2016-01-01

    The carers of all UK Kennel Club registered Italian spinoni (IS) born between January 1, 2000 and December 31, 2011 were invited to participate in the study. The carers of 47 of 63 IS diagnosed with idiopathic epilepsy (IE) returned the questionnaire, which included numerous questions on various aspects of IE including the effect of IE on the dog's carer's quality of life. Median epileptic seizure number in the three months before study end or death was five epileptic seizures, 72 per cent of dogs had cluster seizures, 94 per cent of dogs were administered one or more antiepileptic medications and 36 per cent of dogs were euthanased due to poorly controlled IE. Seventy-one per cent and 65 per cent of the participants were moderately to extremely worried about the frequency and severity of their dog's epileptic seizures, respectively. Caring for an IS with IE caused conflict with the carer's work, education or daily activity often or very often in 50 per cent of the participants. Overall the limitations on the carer's life due to caring for an IS with IE were considered as very to extremely bothersome in 29 per cent of the participants, a little to moderately bothersome in 40 per cent of the participants and not at all bothersome in 31 per cent of the participants. PMID:27403328

  1. Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample.

    PubMed

    Thomé, Ursula; Paixão Alves, Sandra Regina da; Guerreiro, Sabrina Mendonça; Machado da Costa, Célia Regina Carvalho; Souza Moreira, Fernanda de; Bandeira Lima, Andrea; Ferreira Tavares, Maria Rita; Souza Maia Filho, Heber

    2014-04-01

    Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling expectations in a higher frequency than expected. There were no significant differences in mathematical performance among groups divided by number of antiepileptic drugs used, duration of disease and types and frequency of seizures. There was a positive correlation with intelligence quotient and attentional and reading level. These results suggest the existence not only of dyscalculia, but the concurrence of attentional and reading problems for the poor mathematical performance in this population.

  2. Transient neuromyopathy after bromide intoxication in a dog with idiopathic epilepsy

    PubMed Central

    2012-01-01

    A seven-year old Australian Shepherd, suffering from idiopathic epilepsy under treatment with phenobarbitone and potassium bromide, was presented with generalised lower motor neuron signs. Electrophysiology and muscle-nerve biopsies revealed a neuromyopathy. The serum bromide concentration was increased more than two-fold above the upper reference value. Clinical signs disappeared after applying diuretics and reducing the potassium bromide dose rate. This is the first case report describing electrophysiological and histopathological findings associated with bromide induced lower motor neuron dysfunction in a dog. PMID:23216950

  3. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

    PubMed

    Lachance-Touchette, Pamela; Martin, Caroline; Poulin, Chantal; Gravel, Micheline; Carmant, Lionel; Cossette, Patrick

    2010-09-01

    Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. A total of nine single nucleotide polymorphisms (SNPs) have been identified,five of which are novel. The previously described P11S missense mutation was found in three affected and one unaffected individuals from a French-Canadian family. However, the P11S variant was also found in one of our 190 control individuals of French-Canadian origin, suggesting that this variant is rather a rare polymorphism in this population. Further screening of other IGE cohorts from various ethnic origins would help to confirm the association between this rare functional variant and epilepsy.

  4. Epilepsy

    MedlinePlus

    ... de los dientes Video: Getting an X-ray Epilepsy KidsHealth > For Kids > Epilepsy Print A A A ... With Epilepsy Different? en español Epilepsia What Is Epilepsy? Epilepsy comes from a Greek word meaning "to ...

  5. Epilepsy

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? Epilepsy KidsHealth > For Kids > Epilepsy A A A What's ... With Epilepsy Different? en español Epilepsia What Is Epilepsy? Epilepsy comes from a Greek word meaning "to ...

  6. Long-Term Clinical and Electroencephalography (EEG) Consequences of Idiopathic Partial Epilepsies.

    PubMed

    Dörtcan, Nimet; Tekin Guveli, Betul; Dervent, Aysin

    2016-05-03

    BACKGROUND Idiopathic partial epilepsies of childhood (IPE) affect a considerable proportion of children. Three main electroclinical syndromes of IPE are the Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS), Panayiotopoulos Syndrome (PS), and Childhood Epilepsy with Occipital Paroxysms (CEOP). In this study we investigated the long-term prognosis of patients with IPE and discussed the semiological and electroencephalography (EEG) data in terms of syndromic characteristics. MATERIAL AND METHODS This study included a group of consecutive patients with IPE who had been followed since 1990. Demographic and clinical variables were investigated. Patients were divided into 3 groups - A: Cases suitable for a single IPE (BECTS, PS and CEOP); B: cases with intermediate characteristics within IPEs; and C: cases with both IPE and IGE characteristics. Long-term data regarding the individual seizure types and EEG findings were re-evaluated. RESULTS A total of 61 patients were included in the study. Mean follow-up duration was 7.8 ± 4.50 years. The mean age at onset of seizures was 7.7 years. There were 40 patients in group A 40, 14 in group B, and 7 in group C. Seizure and EEG characteristics were also explored independently from the syndromic approach. Incidence of autonomic seizures is considerably high at 2-5 years and incidence of oromotor seizures is high at age 9-11 years. The EEG is most abnormal at 6-8 years. The vast majority (86%) of epileptic activity (EA) with parietooccipital is present at 2-5 years, whereas EA with fronto-temporal or multiple sites become more abundant between ages 6 and 11. CONCLUSIONS Results of the present study provide support for the age-related characteristics of the seizures and EEGs in IPE syndromes. Acknowledgement of those phenomena may improve the management of IPEs and give a better estimate of the future consequences.

  7. Epilepsy

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Epilepsy KidsHealth > For Teens > Epilepsy A A A What's ... embarrass himself or scare his friends. What Is Epilepsy? Epilepsy is a condition of the nervous system ...

  8. Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy.

    PubMed

    Sivakumar, Sanjeev; Zutshi, Deepti; Seraji-Bozorgzad, Navid; Shah, Aashit K

    2017-01-01

    Marijuana-based treatment for refractory epilepsy shows promise in surveys, case series, and clinical trials. However, literature on their EEG effects is sparse. Our objective is to analyze the effect of marijuana on EEG in a 24-year-old patient with idiopathic generalized epilepsy treated with cannabis. We blindly reviewed 3 long-term EEGs-a 24-hour study while only on antiepileptic drugs, a 72-hour EEG with Cannabis indica smoked on days 1 and 3 in addition to antiepileptic drugs, and a 48-hour EEG with combination C indica/sativa smoked on day 1 plus antiepileptic drugs. Generalized spike-wave discharges and diffuse paroxysmal fast activity were categorized as interictal and ictal, based on duration of less than 10 seconds or greater, respectively. Data from three studies concatenated into contiguous time series, with usage of marijuana modeled as time-dependent discrete variable while interictal and ictal events constituted dependent variables. Analysis of variance as initial test for significance followed by time series analysis using Generalized Autoregressive Conditional Heteroscedasticity model was performed. Statistical significance for lower interictal events (analysis of variance P = 0.001) was seen during C indica use, but not for C indica/sativa mixture (P = 0.629) or ictal events (P = 0.087). However, time series analysis revealed a significant inverse correlation between marijuana use, with interictal (P < 0.0004) and ictal (P = 0.002) event rates. Using a novel approach to EEG data, we demonstrate a decrease in interictal and ictal electrographic events during marijuana use. Larger samples of patients and EEG, with standardized cannabinoid formulation and dosing, are needed to validate our findings.

  9. Resting motor threshold in idiopathic generalized epilepsies: a systematic review with meta-analysis.

    PubMed

    Brigo, Francesco; Storti, Monica; Benedetti, Maria Donata; Rossini, Fabio; Nardone, Raffaele; Tezzon, Frediano; Fiaschi, Antonio; Bongiovanni, Luigi Giuseppe; Manganotti, Paolo

    2012-08-01

    Resting motor threshold (rMT) assessed by means of Transcranial Magnetic Stimulation (TMS) is thought to reflect trans-synaptic excitability of cortico-spinal neurons. TMS studies reporting rMT in idiopathic generalized epilepsies (IGEs) yielded discrepant results, so that it is difficult to draw a definitive conclusion on cortico-spinal excitability in IGEs by simple summation of previous results regarding this measure. Our purpose was to carry out a systematic review and a meta-analysis of studies evaluating rMT values obtained during single-pulse TMS in patients with IGEs. Controlled studies measuring rMT by single-pulse TMS in drug-naive patients older than 12 years affected by IGEs were systematically reviewed. rMT values were assessed calculating mean difference and odds ratio with 95% confidence intervals (CI). Fourteen trials (265 epileptic patients and 424 controls) were included. Patients with juvenile myoclonic epilepsy (JME) have a statistically significant lower rMT compared with controls (mean difference: -6.78; 95% CI -10.55 to -3.00); when considering all subtypes of IGEs and IGEs other than JME no statistically significant differences were found. Overall considered, the results are indicative of a cortico-spinal hyper-excitability in JME, providing not enough evidence for motor hyper-excitability in other subtypes of IGE. The considerable variability across studies probably reflects the presence of relevant clinical and methodological heterogeneity, and higher temporal variability among rMT measurements over time, related to unstable cortical excitability in these patients.

  10. Inadequate cervical mucus--a cause of "idiopathic" infertility.

    PubMed

    Sher, G; Katz, M

    1976-08-01

    The purpose of this study was to investigate and treat a group of patients referred for "idiopathic" infertility in whom no apparent cause for infertility, apart from inadequate cervical mucus, was found. Hormone investigations revealed that these patients could be divided into two groups: those with low sex steroid profiles despite apparent ovulation, and a second group with normal sex steroid profiles. All patients were treated with ovulation-inducing agents in an attempt to produce "controlled" ovarian hyperstimulation and an improved cervical mucus. Four of six patients conceived. The rationale behind the use of ovulation-inducing agents in this situation is discussed.

  11. Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized Epilepsy

    PubMed Central

    Elshahabi, Adham; Klamer, Silke; Sahib, Ashish Kaul; Lerche, Holger; Braun, Christoph; Focke, Niels K.

    2015-01-01

    Idiopathic/genetic generalized epilepsy (IGE/GGE) is characterized by seizures, which start and rapidly engage widely distributed networks, and result in symptoms such as absences, generalized myoclonic and primary generalized tonic-clonic seizures. Although routine magnetic resonance imaging is apparently normal, many studies have reported structural alterations in IGE/GGE patients using diffusion tensor imaging and voxel-based morphometry. Changes have also been reported in functional networks during generalized spike wave discharges. However, network function in the resting-state without epileptiforme discharges has been less well studied. We hypothesize that resting-state networks are more representative of the underlying pathophysiology and abnormal network synchrony. We studied functional network connectivity derived from whole-brain magnetoencephalography recordings in thirteen IGE/GGE and nineteen healthy controls. Using graph theoretical network analysis, we found a widespread increase in connectivity in patients compared to controls. These changes were most pronounced in the motor network, the mesio-frontal and temporal cortex. We did not, however, find any significant difference between the normalized clustering coefficients, indicating preserved gross network architecture. Our findings suggest that increased resting state connectivity could be an important factor for seizure spread and/or generation in IGE/GGE, and could serve as a biomarker for the disease. PMID:26368933

  12. Electroclinical features of idiopathic generalised epilepsy with persisting absences in adult life.

    PubMed Central

    Michelucci, R; Rubboli, G; Passarelli, D; Riguzzi, P; Volpi, L; Parmeggiani, L; Rizzi, R; Gardella, E; Tassinari, C A

    1996-01-01

    OBJECTIVES: To describe the electroclinical features of typical absences persisting in adult life. METHODS: Twelve adult patients (aged 21 to 56 years) with idiopathic generalised epilepsy featuring typical absences as the prominent clinical feature were studied. All patients underwent a full clinical and neurophysiological investigation including ictal documentation of seizures. RESULTS: Neurological examination and neuroradiological investigations were normal in all cases. Clinical findings included a median age at onset of absences of 14 (range 4-32) years, almost constant tonic-clonic seizures (in 83% of patients), frequent episodes of absence status (in 33% of patients), and associated cognitive or psychiatric disturbances. Interictal EEG findings showed normal background activity, generalised paroxysms of spike waves or polyspike waves, and inconstant focal spikes (in five patients); runs of polyspikes were seen during non-REM sleep. Ictal EEG findings showed generalised spike waves at 3 Hz, sometimes preceded by multiple spikes, or more complex EEG patterns with sequences of polyspikes intermingled with spike waves or polyspike waves, showing discharge fragmentation or variation of intradischarge frequency. CONCLUSION: The results of the present study show that absences persisting in adult life may show particular clinical and EEG patterns, distinct from those in childhood or adolescence. PMID:8937341

  13. Imepitoin as novel treatment option for canine idiopathic epilepsy: pharmacokinetics, distribution, and metabolism in dogs

    PubMed Central

    Rundfeldt, C; Gasparic, A; Wlaź, P

    2014-01-01

    Imepitoin is a novel anti-epileptic licensed in the European Union for the treatment of canine idiopathic epilepsy. The aim of this study was to characterize the pharmacokinetics of imepitoin in dogs and to evaluate the interaction with drug metabolizing enzymes. Upon administration of imepitoin tablets at a dose of 30 mg/kg to beagle dogs, high plasma levels were observed within 30 min following oral dosing, with maximal plasma concentrations of 14.9–17.2 μg/mL reached after 2–3 h. In a crossover study, co-administration of imepitoin tablets with food reduced the total AUC by 30%, but it did not result in significant changes in Tmax and Cmax, indicating lack of clinical relevance. No clinically relevant effects of sex and no accumulation or metabolic tolerance were observed upon twice daily dosing. Following single dose administration of 10–100 mg/kg, dose linearity was found. Administering [14C] imepitoin, high enteral absorption of 92% and primary fecal excretion were identified. Plasma protein binding was only 55%. At therapeutic plasma concentrations, imepitoin did not inhibit microsomal cytochrome P450 family liver enzymes in vitro. In rats, no relevant induction of liver enzymes was found. Therefore, protein binding or metabolism-derived drug–drug interactions are unlikely. Based on these data, imepitoin can be dosed twice daily, but the timing of tablet administration in relation to feeding should be kept consistent. PMID:24611573

  14. Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence

    PubMed Central

    Wei, Huilin; An, Jie; Shen, Hui; Zeng, Ling-Li; Qiu, Shijun; Hu, Dewen

    2016-01-01

    Idiopathic generalized epilepsy (IGE) patients with generalized tonic-clonic seizures (GTCS) suffer long-term cognitive impairments, and present a higher incidence of psychosocial and psychiatric disturbances than healthy people. It is possible that the cognitive dysfunctions and higher psychopathological risk in IGE-GTCS derive from disturbed causal relationship among core neurocognitive brain networks. To test this hypothesis, we examined the effective connectivity across the salience network (SN), default mode network (DMN), and central executive network (CEN) using resting-state functional magnetic resonance imaging (fMRI) data collected from 27 IGE-GTCS patients and 29 healthy controls. In the study, a combination framework of time domain and frequency domain multivariate Granger causality analysis was firstly proposed, and proved to be valid and accurate by simulation experiments. Using this method, we then observed significant differences in the effective connectivity graphs between the patient and control groups. Specifically, between-group statistical analysis revealed that relative to the healthy controls, the patients established significantly enhanced Granger causal influence from the dorsolateral prefrontal cortex to the dorsal anterior cingulate cortex, which is coherent both in the time and frequency domains analyses. Meanwhile, time domain analysis also revealed decreased Granger causal influence from the right fronto-insular cortex to the posterior cingulate cortex in the patients. These findings may provide new evidence for functional brain organization disruption underlying cognitive dysfunctions and psychopathological risk in IGE-GTCS. PMID:27656137

  15. Cognitive impairment in childhood onset epilepsy: up-to-date information about its causes

    PubMed Central

    Kim, Eun-Hee

    2016-01-01

    Cognitive impairment associated with childhood-onset epilepsy is an important consequence in the developing brain owing to its negative effects on neurodevelopmental and social outcomes. While the cause of cognitive impairment in epilepsy appears to be multifactorial, epilepsy-related factors such as type of epilepsy and underlying etiology, age at onset, frequency of seizures, duration of epilepsy, and its treatment are considered important. In recent studies, antecedent cognitive impairment before the first recognized seizure and microstructural and functional alteration of the brain at onset of epilepsy suggest the presence of a common neurobiological mechanism between epilepsy and cognitive comorbidity. However, the overall impact of cognitive comorbidity in children with epilepsy and the independent contribution of each of these factors to cognitive impairment have not been clearly delineated. This review article focuses on the significant contributors to cognitive impairment in children with epilepsy. PMID:27186225

  16. Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure.

    PubMed

    Liu, Feng; Wang, Yifeng; Li, Meiling; Wang, Wenqin; Li, Rong; Zhang, Zhiqiang; Lu, Guangming; Chen, Huafu

    2017-02-01

    Idiopathic generalized epilepsy (IGE) has been linked with disrupted intra-network connectivity of multiple resting-state networks (RSNs); however, whether impairment is present in inter-network interactions between RSNs, remains largely unclear. Here, 50 patients with IGE characterized by generalized tonic-clonic seizures (GTCS) and 50 demographically matched healthy controls underwent resting-state fMRI scans. A dynamic method was implemented to investigate functional network connectivity (FNC) in patients with IGE-GTCS. Specifically, independent component analysis was first carried out to extract RSNs, and then sliding window correlation approach was employed to obtain dynamic FNC patterns. Finally, k-mean clustering was performed to characterize six discrete functional connectivity states, and state analysis was conducted to explore the potential alterations in FNC and other dynamic metrics. Our results revealed that state-specific FNC disruptions were observed in IGE-GTCS and the majority of aberrant functional connectivity manifested itself in default mode network. In addition, temporal metrics derived from state transition vectors were altered in patients including the total number of transitions across states and the mean dwell time, the fraction of time spent and the number of subjects in specific FNC state. Furthermore, the alterations were significantly correlated with disease duration and seizure frequency. It was also found that dynamic FNC could distinguish patients with IGE-GTCS from controls with an accuracy of 77.91% (P < 0.001). Taken together, this study not only provided novel insights into the pathophysiological mechanisms of IGE-GTCS but also suggested that the dynamic FNC analysis was a promising avenue to deepen our understanding of this disease. Hum Brain Mapp 38:957-973, 2017. © 2016 Wiley Periodicals, Inc.

  17. Frequency-Specific Alterations of Local Synchronization in Idiopathic Generalized Epilepsy

    PubMed Central

    Wang, Jue; Zhang, Zhiqiang; Ji, Gong-Jun; Xu, Qiang; Huang, Yubin; Wang, Zhengge; Jiao, Qing; Yang, Fang; Zang, Yu-Feng; Liao, Wei; Lu, Guangming

    2015-01-01

    Abstract Recurrently and abnormally hypersynchronous discharge is a striking feature of idiopathic generalized epilepsy (IGE). Resting-state functional magnetic resonance imaging has revealed aberrant spontaneous brain synchronization, predominately in low-frequency range (<0.1 Hz), in individuals with IGE. Little is known, however, about these changes in local synchronization across different frequency bands. We examined alterations to frequency-specific local synchronization in terms of spontaneous blood oxygen level-dependent (BOLD) fluctuations across 5 bands, spanning 0 to 0.25 Hz. Specifically, we compared brain activity in a large cohort of IGE patients (n = 86) to age- and sex-matched normal controls (n = 86). IGE patients showed decreased local synchronization in low frequency (<0.073 Hz), primarily in the default mode network (DMN). IGE patients also exhibited increased local synchronization in high-frequency (>0.073 Hz) in a “conscious perception network,” which is anchored by the pregenual and dorsal anterior cingulate cortex, as well as the bilateral insular cortices, possibly contributing to impaired consciousness. Furthermore, we found frequency-specific alternating local synchronization in the posterior portion of the DMN relative to the anterior part, suggesting an interaction between the disease and frequency bands. Importantly, the aberrant high-frequency local synchronization in the middle cingulate cortex was associated with disease duration, thus linking BOLD frequency changes to disease severity. These findings provide an overview of frequency-specific local synchronization of BOLD fluctuations, and may be helpful in uncovering abnormal synchronous neuronal activity in patients with IGE at specific frequency bands. PMID:26266394

  18. Prevalence of lateral ventricle asymmetry in brain MRI studies of neurologically normal dogs and dogs with idiopathic epilepsy.

    PubMed

    Pivetta, Mauro; De Risio, Luisa; Newton, Richard; Dennis, Ruth

    2013-01-01

    Asymmetry of the cerebral lateral ventricles is a common finding in cross-sectional imaging of otherwise normal canine brains and has been assumed to be incidental. The purpose of this retrospective study was to compare the prevalence of ventricular asymmetry in brain MRI studies of normal dogs and dogs with idiopathic epilepsy. Brain MRI archives were searched for 100 neurologically normal dogs (Group 1) and 100 dogs with idiopathic epilepsy (Group 2). For each dog, asymmetry of the lateral ventricles was subjectively classified as absent, mild, moderate, and severe based on a consensus of two observers who were unaware of group status. Ventricular areas were measured from transverse T1W images at the level of the interthalamic adhesion. An asymmetry ratio was calculated as the ratio of the larger to smaller ventricular transverse area. There was excellent agreement between subjective assessments of ventricular asymmetry and quantitative assessments using asymmetry ratios (k = 0.995). The prevalence of asymmetry was 38% in Group 1 dogs and 44% in Group 2 dogs. Assymmetry was scored as mild in the majority of Group 2 dogs. There was no significant association between presence/absence and degree of ventricular asymmetry vs. dog group, age, gender, or skull conformation. Findings from the current study supported previously published assumptions that asymmetry of the lateral cerebral ventricles is an incidental finding in MRI studies of the canine brain.

  19. Post-mortem evidence of idiopathic left ventricular hypertrophy and idiopathic interstitial myocardial fibrosis: is exercise the cause?

    PubMed Central

    Whyte, Gregory; Sheppard, Mary; George, Keith; Shave, Robert; Prasad, Sanjay; O’Hanlon, Rory; Sharma, Sanjay

    2009-01-01

    We report the case of an experienced, highly trained marathon runner who died suddenly while running. On post-mortem examination, left ventricle hypertrophy and idiopathic interstitial myocardial fibrosis was found. We believe that life-long, repetitive bouts of arduous physical activity resulted in fibrous replacement of the myocardium, causing a pathological substrate for the propagation of fatal arrhythmias. PMID:21686644

  20. Dural arteriovenous malformation: a rare cause of epilepsy in childhood.

    PubMed

    Caksen, H; Unal, O; Tombul, T; Cesur, Y; Abuhandan, M

    2001-09-01

    A 3 year and 6 month old girl with epilepsy associated with dural arteriovenous malformation (DAVM), diagnosed on the MRI, is presented to emphasise the importance of DAVM in the aetiology of childhood epilepsy.

  1. [Heterotopic gray matter: A rare cause of epilepsy].

    PubMed

    Aissa, A; Ben Lassoued, M; Alouini, R

    2013-03-01

    Various etiologic diagnoses are put forward for certain forms of infant epilepsy. We report four cases illustrating a rare cause: gray matter heterotopia. There were three girls and one boy, aged 3 months to 4 years at onset of seizures and 8 to 30 years at diagnosis of gray matter heterotopia. All patients sought healthcare because of repeated seizures. One patient also presented severe mental retardation. No consanguinity was noted. Magnetic resonance imaging showed the interposition of an ectopic ribbon of gray matter within the white matter in all cases. Ectopic gray matter formed bilateral subependymal nodules in one patient and bilateral nodules in the subcortical region suggestive of concentric laminar organization in another. The two other patients presented both of these forms. Other anomalies were associated: partial agenesis of the corpus callosum associated with colpocephaly causing cortical atrophy in one patient and hippocampal sclerosis in another.

  2. Endoscopic disconnection of hypothalamic astrocytoma causing gelastic epilepsy. Case report.

    PubMed

    Park, Young Seok; Lee, Yun Ho; Shim, Kyu-Won; Kim, Dong-Seok; Lee, Joon Soo; Kim, Heung Dong

    2009-08-01

    The authors report on a case of juvenile pilocytic astrocytoma (JPA) and concomitant hypothalamic hamartoma (HH) with gelastic epilepsy that was successfully treated with endoscopic disconnection. This 6-year-old girl presented with prolonged, medically intractable gelastic seizures that were often followed by generalized tonic seizures. An enhancing, low-grade hypothalamic tumor was identified on MR images obtained when she was 11 months old, but no surgical intervention was attempted at that time apart from bur hole drainage of a chronic subdural hemorrhage. In the first surgery, performed when she was 6 years of age, the authors attempted disconnection and tumor sampling; the lesion was revealed to be a JPA. A second endoscopic disconnection was performed 1 year later to improve seizure control and obtain a pathological specimen from the nonenhancing contralateral side. The pathological results after the second surgery revealed that the enhancing mass was a spontaneously regressing JPA and the contralateral nonenhancing mass was an HH. The HH was found as latent tumor and the JPA was the mass causing gelastic epilepsy. To the authors' knowledge, this is the first report of a patient with a spontaneously regressing JPA and concomitant HH, both of which were treated by endoscopic disconnection.

  3. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

    PubMed

    Korenke, Georg-Christoph; Eggert, Marlene; Thiele, Holger; Nürnberg, Peter; Sander, Thomas; Steinlein, Ortrud K

    2016-03-01

    Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.1522delG; p.E508Rfs*46) within exon 13 of NPRL3. This truncating mutation causes an epilepsy phenotype characterized by early childhood onset of mainly nocturnal frontal lobe epilepsy. The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy. The absence of apparent structural brain abnormalities suggests that mutations in NPRL3 are not necessarily associated with focal cortical dysplasia but might be able to cause epilepsy by different, yet unknown pathomechanisms.

  4. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myocloni epilepsy: No evidence for an epilepsy locus in the HLA region

    SciTech Connect

    Whitehouse, W.P.; Rees, M.; Curtis, D.; Sundqvist, A.; Parker, K.; Chung, E.; Baralle, D.; Gardiner, R.M.

    1993-09-01

    Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds. Linkage analysis has been undertaken in a third set of 25 families including a patient with JME and at least one first-degree relative with IGE. Family members were typed for eight polymorphic loci on chromosome 6p: F13A, D6889, D6S109, D6S105, D6S10, C4B, DQA1/A2, and TCTE1. Pairwise and multipoint linkage analysis was carried out assuming autosomal dominant and autosomal recessive inheritance and age-dependent high or low penetrance. No significant evidence in favor of linkage was obtained at any locus. Multipoint linkage analysis generated significant exclusion data (lod score < -2.0) at HLA and for a region 10-30 cM telomeric to HLA, the extent of which varied with the level of penetrance assumed. These observations indicate that genetic heterogeneity exists within this epilepsy phenotype. 39 refs., 4 figs., 2 tabs.

  5. Multiple Pyogenic Liver Abscesses Caused by Microperforation of an Idiopathic Cecal Ulcer.

    PubMed

    Yeom, Dong Han; Sohn, Ki Chang; Chu, Min Su; Jo, Dong Ho; Cho, Eun Young; Kim, Haak Cheoul

    2016-01-25

    Idiopathic cecal ulcer is a rare disease entity of unknown cause diagnosed by ruling out other known causes of cecal ulceration. The most common complication of an idiopathic cecal ulcer is bleeding; perforation, peritonitis, abscess, and stricture formation have been noted. The authors treated a 53-year-old woman who presented with fever and intermittent right upper quadrant abdominal pain. Multiple pyogenic liver abscess and a solitary cecal ulcer were diagnosed by radiologic, endoscopic, and pathologic examination, followed by laparoscopic cecectomy. After extensive study, we concluded that this patient's liver abscesses were a complication of the idiopathic cecal ulcer. Herein, we report a case of multiple pyogenic liver abscess caused by microperforation of idiopathic cecal ulcer.

  6. Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

    PubMed Central

    Dazzo, Emanuela; Fanciulli, Manuela; Serioli, Elena; Minervini, Giovanni; Pulitano, Patrizia; Binelli, Simona; Di Bonaventura, Carlo; Luisi, Concetta; Pasini, Elena; Striano, Salvatore; Striano, Pasquale; Coppola, Giangennaro; Chiavegato, Angela; Radovic, Slobodanka; Spadotto, Alessandro; Uzzau, Sergio; La Neve, Angela; Giallonardo, Anna Teresa; Mecarelli, Oriano; Tosatto, Silvio C.E.; Ottman, Ruth; Michelucci, Roberto; Nobile, Carlo

    2015-01-01

    Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identification of causal mutations in reelin (RELN) in seven ADLTE-affected families without LGI1 mutations. We initially investigated 13 ADLTE-affected families by performing SNP-array linkage analysis and whole-exome sequencing and identified three heterozygous missense mutations co-segregating with the syndrome. Subsequent analysis of 15 small ADLTE-affected families revealed four additional missense mutations. 3D modeling predicted that all mutations have structural effects on protein-domain folding. Overall, RELN mutations occurred in 7/40 (17.5%) ADLTE-affected families. RELN encodes a secreted protein, Reelin, which has important functions in both the developing and adult brain and is also found in the blood serum. We show that ADLTE-related mutations significantly decrease serum levels of Reelin, suggesting an inhibitory effect of mutations on protein secretion. We also show that Reelin and LGI1 co-localize in a subset of rat brain neurons, supporting an involvement of both proteins in a common molecular pathway underlying ADLTE. Homozygous RELN mutations are known to cause lissencephaly with cerebellar hypoplasia. Our findings extend the spectrum of neurological disorders associated with RELN mutations and establish a link between RELN and LGI1, which play key regulatory roles in both the developing and adult brain. PMID:26046367

  7. Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies

    PubMed Central

    Zeng, Hongwu; He, Xiaoming; Li, Feng; Zhang, Jian; Huang, Bingsheng

    2017-01-01

    Objective We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. Methods A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted. A total of 12 IGE studies, including 7 JME and 3 AE studies, were selected. Meta-analysis was performed on these studies by using the pooled and within-subtypes analysis (www.brainmap.org). Based on the above results, between-subtypes contrast analysis was carried out to detect the abnormal GMV regions common in and unique to each subtype as well. Results IGE demonstrated significant GMV increase in right ventral lateral nucleus (VL) and right medial frontal gyrus, and significant GMV decrease in bilateral pulvinar. For JME, significant GMV increase was seen in right medial frontal gyrus, right anterior cingulate cortex (ACC), while significant GMV decrease was found in right pulvinar. In AE, the most significant GMV increase was found in right VL, and slight GMV reduction was seen in right medial dorsal nucleus, right subcallosal gyrus, left caudate and left precuneus. No overlapped and unique regions with significant GMV abnormalities were found between JME and AE. Significance This meta-analysis demonstrated that thalamo-frontal network was a structure with significant GMV abnormality in IGE, and the IGE subsyndromes showed different GMV abnormal regions. These observations may provide instructions on the clinical diagnosis of IGE. PMID:28060866

  8. A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy.

    PubMed

    Kverneland, Magnhild; Selmer, Kaja K; Nakken, Karl O; Iversen, Per O; Taubøll, Erik

    2015-12-01

    For children with pharmacoresistant epilepsy, the ketogenic diet is an established treatment option worldwide. However, for adults, this treatment is less frequently offered, and its efficacy less well-documented. The aim of this study was to examine efficacy and tolerability of such a diet as an adjuvant therapy to antiepileptic drugs for adult patients with pharmacoresistant generalized epilepsy. Thirteen patients (12 women) aged 16-57 years were included prospectively. They were treated with a modified Atkins diet for 12 weeks. Nine of the 13 participants had juvenile myoclonic epilepsy (JME), two had childhood absence epilepsy, one had Jeavons syndrome, and one had generalized epilepsy of unknown type. Six participants, all with JME, completed the 12-week study period. Among these six, four had >50% seizure reduction. Their seizure severity, using the revised Liverpool Seizure Severity Scale, was reduced by 1, 5, 57.5, and 70 points, respectively (scale: 1-100 points). In three of these four responders, quality of life, assessed by QOLIE-89, increased more than 20 points (scale: 0-100 points). Mean reduction of body weight after 12 weeks on diet was 6.5 (range: 4.3-8.1) kg. Lack of motivation, poor compliance, and seizure aggravation were the main reasons for premature termination of the diet. Apart from one patient who developed gallstones when ending the treatment after 10 months, no adverse effects were noted. In conclusion, using a modified Atkins diet for 12 weeks led to a clinically relevant reduction of seizure frequency in four of thirteen adult patients with pharmacoresistant generalized epilepsy. All responders were diagnosed with JME. In three of the four, the benefits of diet were so considerable that they chose to continue the treatment.

  9. RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

    PubMed

    Aeby, Alec; Prigogine, Cynthia; Vilain, Catheline; Malfilatre, Geneviève; Jaeken, Jaak; Lederer, Damien; Van Bogaert, Patrick

    2016-03-01

    RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online].

  10. Idiopathic retroperitoneal fibrosis causing unilateral ureteral and sigmoid colon obstruction

    PubMed Central

    Yan, Ting; Wang, Yujuan; Liu, Zhijun; Zhang, Xiaolei; Wu, Qian; Xi, Mingrong

    2017-01-01

    Abstract Objective: The present report aimed to present a unique case of idiopathic retroperitoneal fibrosis (RPF) presenting features of unilateral ureteral and sigmoid colon obstruction. RPF is a rare disorder with unclear etiology. Case report: A 43-year-old female had a 10-day history of lower right abdominal and lumbar pain. Gynecological examination, ultrasound, and computed tomography (CT) were all suggestive of right ovarian tumor. An enhanced CT showed right-sided hydronephrosis. The patient was diagnosed as having ovarian cancer. Ten days after hospitalization, a right intraureteral stent with a double-J catheter was inserted. Upon exploring the abdomen, unyielding RPF was encountered. A partial sigmoidectomy and colostomy were performed. Postoperative pathological results suggested idiopathic RPF. She received steroid treatments. Conclusion: RPF is a rare disease that can be misdiagnosed. Our understanding about its presentation has to be improved and it should be considered as a differential diagnosis for patients presenting with abdominal diseases. PMID:28207528

  11. Mutations in KCNT1 cause a spectrum of focal epilepsies.

    PubMed

    Møller, Rikke S; Heron, Sarah E; Larsen, Line H G; Lim, Chiao Xin; Ricos, Michael G; Bayly, Marta A; van Kempen, Marjan J A; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M; Callen, David; McMahon, Jacinta M; Yendle, Simone C; Carvill, Gemma L; Mefford, Heather C; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, Maria G; Zara, Federico; Smith, Nicholas J; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E; Gunning, Boudewijn; Kragh-Olsen, Bente; Dibbens, Leanne M

    2015-09-01

    Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype-phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances.

  12. A randomised trial of a medium-chain TAG diet as treatment for dogs with idiopathic epilepsy.

    PubMed

    Law, Tsz Hong; Davies, Emma S S; Pan, Yuanlong; Zanghi, Brian; Want, Elizabeth; Volk, Holger A

    2015-11-14

    Despite appropriate antiepileptic drug treatment, approximately one-third of humans and dogs with epilepsy continue experiencing seizures, emphasising the importance for new treatment strategies to improve the quality of life of people or dogs with epilepsy. A 6-month prospective, randomised, double-blinded, placebo-controlled cross-over dietary trial was designed to compare a ketogenic medium-chain TAG diet (MCTD) with a standardised placebo diet in chronically antiepileptic drug-treated dogs with idiopathic epilepsy. Dogs were fed either MCTD or placebo diet for 3 months followed by a subsequent respective switch of diet for a further 3 months. Seizure frequency, clinical and laboratory data were collected and evaluated for twenty-one dogs completing the study. Seizure frequency was significantly lower when dogs were fed the MCTD (2·31/month, 0-9·89/month) in comparison with the placebo diet (2·67/month, 0·33-22·92/month, P=0·020); three dogs achieved seizure freedom, seven additional dogs had ≥50 % reduction in seizure frequency, five had an overall <50 % reduction in seizures (38·87 %, 35·68-43·27 %) and six showed no response. Seizure day frequency were also significantly lower when dogs were fed the MCTD (1·63/month, 0-7·58/month) in comparison with the placebo diet (1·69/month, 0·33-13·82/month, P=0·022). Consumption of the MCTD also resulted in significant elevation of blood β-hydroxybutyrate concentrations in comparison with placebo diet (0·041 (sd 0·004) v. 0·031 (sd 0·016) mmol/l, P=0·028). There were no significant changes in serum concentrations of glucose (P=0·903), phenobarbital (P=0·422), potassium bromide (P=0·404) and weight (P=0·300) between diet groups. In conclusion, the data show antiepileptic properties associated with ketogenic diets and provide evidence for the efficacy of the MCTD used in this study as a therapeutic option for epilepsy treatment.

  13. Baseline Cognition, Behavior, and Motor Skills in Children with New-Onset, Idiopathic Epilepsy

    ERIC Educational Resources Information Center

    Bhise, Vikram V.; Burack, Gail D.; Mandelbaum, David E.

    2010-01-01

    Aim: Epilepsy is associated with difficulties in cognition and behavior in children. These problems have been attributed to genetics, ongoing seizures, psychosocial issues, underlying abnormality of the brain, and/or antiepileptic drugs. In a previous study, we found baseline cognitive differences between children with partial versus generalized…

  14. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.

    PubMed

    Virtaneva, K; D'Amato, E; Miao, J; Koskiniemi, M; Norio, R; Avanzini, G; Franceschetti, S; Michelucci, R; Tassinari, C A; Omer, S; Pennacchio, L A; Myers, R M; Dieguez-Lucena, J L; Krahe, R; de la Chapelle, A; Lehesjoki, A E

    1997-04-01

    Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder that occurs with a low frequency in many populations but is more common in Finland and the Mediterranean region. It is characterized by stimulus-sensitive myoclonus and tonic-clonic seizures with onset at age 6-15 years, typical electroencephalographic abnormalities and a variable rate of progression between and within families. Following the initial mapping of the EPM1 gene to chromosome 21 (ref. 6) and the refinement of the critical region to a small interval, positional cloning identified the gene encoding cystatin B (CST6), a cysteine protease inhibitor, as the gene underlying EPM1 (ref. 10). Levels of messenger RNA encoded by CST6 were dramatically decreased in patients. A 3' splice site and a stop codon mutation were identified in three families, leaving most mutations uncharacterized. In this study, we report a novel type of disease-causing mutation, an unstable 15- to 18-mer minisatellite repeat expansion in the putative promoter region of the CST6 gene. The mutation accounts for the majority of EPM1 patients worldwide. Haplotype data are compatible with a single ancestral founder mutation. The length of the repeat array differs between chromosomes and families, but changes in repeat number seem to be comparatively rare events.

  15. LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

    PubMed Central

    Seppälä, Eija H.; Jokinen, Tarja S.; Fukata, Masaki; Fukata, Yuko; Webster, Matthew T.; Karlsson, Elinor K.; Kilpinen, Sami K.; Steffen, Frank; Dietschi, Elisabeth; Leeb, Tosso; Eklund, Ranja; Zhao, Xiaochu; Rilstone, Jennifer J.; Lindblad-Toh, Kerstin; Minassian, Berge A.; Lohi, Hannes

    2011-01-01

    One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2–10-year-old children, and these epilepsies are often characterized by spontaneous remission. We previously described a remitting epilepsy in the Lagotto romagnolo canine breed. Here, we identify the gene defect and affected neurochemical pathway. We reconstructed a large Lagotto pedigree of around 34 affected animals. Using genome-wide association in 11 discordant sib-pairs from this pedigree, we mapped the disease locus to a 1.7 Mb region of homozygosity in chromosome 3 where we identified a protein-truncating mutation in the Lgi2 gene, a homologue of the human epilepsy gene LGI1. We show that LGI2, like LGI1, is neuronally secreted and acts on metalloproteinase-lacking members of the ADAM family of neuronal receptors, which function in synapse remodeling, and that LGI2 truncation, like LGI1 truncations, prevents secretion and ADAM interaction. The resulting epilepsy onsets at around seven weeks (equivalent to human two years), and remits by four months (human eight years), versus onset after age eight in the majority of human patients with LGI1 mutations. Finally, we show that Lgi2 is expressed highly in the immediate post-natal period until halfway through pruning, unlike Lgi1, which is expressed in the latter part of pruning and beyond. LGI2 acts at least in part through the same ADAM receptors as LGI1, but earlier, ensuring electrical stability (absence of epilepsy) during pruning years, preceding this same function performed by LGI1 in later years. LGI2 should be considered a candidate gene for common remitting childhood epilepsies, and LGI2-to-LGI1 transition for mechanisms of childhood epilepsy remission. PMID:21829378

  16. Epilepsy

    MedlinePlus

    ... of basic, translational, and clinical research on the processes by which epilepsy develops, including mechanisms associated with brain malformations, genetic defects, and precipitating insults like TBI, stroke, brain tumor, childhood febrile seizures, or infection. These studies are identifying ...

  17. Epilepsy

    MedlinePlus

    ... look at the brain and nervous system. An EEG (electroencephalogram) will be done to check the electrical ... epilepsy surgery, you may need to: Wear an EEG recorder for days or weeks as you go ...

  18. The causes of new-onset epilepsy and seizures in the elderly

    PubMed Central

    Liu, Shasha; Yu, Weihua; Lü, Yang

    2016-01-01

    With increasing age, the prevalence and incidence of epilepsy and seizures increases correspondingly. New-onset epilepsy in elderly people often has underlying etiology, including cerebrovascular diseases, primary neuron degenerative disorders, intracerebral tumors, and traumatic head injury. In addition, an acute symptomatic seizure cannot be called epilepsy, which manifests usually as a common symptom secondary to metabolic or toxicity factors in older people. In this review, we have mainly focused on the causes of new-onset epilepsy and seizures in elderly people. This knowledge will certainly help us to understand the reasons for high incidences of epilepsy and seizures in elderly people. We look forward to controlling epileptic seizures via the treatment of primary diseases in the future. PMID:27382285

  19. Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

    PubMed

    Dibbens, Leanne M; de Vries, Boukje; Donatello, Simona; Heron, Sarah E; Hodgson, Bree L; Chintawar, Satyan; Crompton, Douglas E; Hughes, James N; Bellows, Susannah T; Klein, Karl Martin; Callenbach, Petra M C; Corbett, Mark A; Gardner, Alison E; Kivity, Sara; Iona, Xenia; Regan, Brigid M; Weller, Claudia M; Crimmins, Denis; O'Brien, Terence J; Guerrero-López, Rosa; Mulley, John C; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul Q; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele F; Andermann, Frederick; Andermann, Eva; van den Maagdenberg, Arn M J M; Pandolfo, Massimo; Berkovic, Samuel F; Scheffer, Ingrid E

    2013-05-01

    The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because family members have seizures originating from different cortical regions. Using exome sequencing, we detected DEPDC5 mutations in two affected families. We subsequently identified mutations in five of six additional published large families with FFEVF. Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies. Shared homology with G protein signaling molecules and localization in human neurons suggest a role of DEPDC5 in neuronal signal transduction.

  20. Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

    PubMed Central

    Kotan, Leman Damla; Cooper, Charlton; Darcan, Şükran; Carr, Ian M.; Özen, Samim; Yan, Yi; Hamedani, Mohammad K.; Gürbüz, Fatih; Mengen, Eda; Turan, İhsan; Ulubay, Ayça; Akkuş, Gamze; Yüksel, Bilgin; Topaloğlu, A. Kemal; Leygue, Etienne

    2016-01-01

    Objective: What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH). Methods: A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing. Results: Our studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogenesis. Functional studies with a mutant SRA1 construct showed a reduced co-activation of ligand-dependent activity of the estrogen receptor alpha, as assessed by luciferase reporter assay in HeLa cells. Conclusion: Our findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with its alternative products and functionality may provide a potential explanation for the versatility and complexity of the pubertal process. PMID:27086651

  1. [Myoclonus and epilepsies in children].

    PubMed

    Fejerman, N

    1991-01-01

    The possible associations of myoclonic phenomena, progressive or non progressive encephalopathies and epileptic phenomena are reviewed with special emphasis on childhood. This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with myoclonic seizures or epileptic syndromes (Progressive myoclonus epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) myoclonic epilepsies. In the first group, which also includes physiological myoclonus, a more thorough description of "benign sleep myoclonus of newborn" and "benign myoclonus of early infancy" is given. Characteristic of group 2 are "Kinsbourne syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis problems with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed, meaning that "Progressive Myoclonus Epilepsies" are always in fact progressive encephalopathies presenting with myoclonic types of seizures or epileptic syndromes among other neurologic and psychologic signs and symptoms. Major and rare causes are reviewed. The term major is applied to typical features or to frequency, whereas rare causes include not only those what are rarely seen, but also some myoclonic variants of diseases which usually have different symptoms. The fourth group refers to severe epilepsies, mainly in infancy and childhood, which lead to mental retardation irrespective of their cause. The assumption is that diffuse and persistent epileptic activity may interfere with normal development of the higher cerebral functions. "West syndrome" and "Lennox-Gastaut syndrome" are the more representative examples and may present with myoclonic type of seizures, but they are not dealt with in detail here. Group 5 comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, such as

  2. Epilepsy

    SciTech Connect

    Fisher, R.S.; Frost, J.J. )

    1991-04-01

    As surgical treatments for adult and pediatric forms of epilepsy have become more refined, methods for noninvasive localization of epileptogenic foci have become increasingly important. Detection of focal brain metabolic or flow abnormalities is now well recognized as an essential step in the presurgical evaluation of many patients with epilepsy. Positron emission tomography (PET) scanning is most beneficial when used in the context of the total clinical evaluation of patients, including scalp EEG, invasive EEG, neuropsychologic testing, etc. Metabolic PET studies also give insight into pathophysiologic mechanisms of epilepsy. The dynamic nature of the interictal hypometabolism observed with 18(F)FDG in some patients suggests that excitatory or inhibitory neurotransmitters and their receptors may be involved. An exciting current application of PET scanning is the use of tracers for neurotransmitter receptors in the study of epilepsy patients. Mu and non-mu opiate receptors have been extensively studied and are beginning to give new insights into this disorder. Increased labeling of mu receptors in temporal neocortex using 11C-carfentanil has been demonstrated and, in some patients, supplements the clinical localization information from 18(F)FDG studies. Increased mu opiate receptor number or affinity is thought to play a role in anticonvulsant mechanisms. Specificity of increased mu receptors is supported by the absence of significant changes in non-mu opiate receptors. Other brain receptors are also of interest for future studies, particularly those for excitatory neurotransmitters. Combined studies of flow, metabolism, and neuroreceptors may elucidate the factors responsible for initiation and termination of seizures, thus improving patient treatment.95 references.

  3. Common subtypes of idiopathic generalized epilepsies: Lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20

    SciTech Connect

    Sander, T.; Schmitz, B.; Janz, D.

    1996-02-16

    Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). A trait locus (EBN1) for a rare subtype of IGEs, the benign neonatal familial convulsions, and a susceptibility gene (EEGV1) for the common human low-voltage electroencephalogram have been mapped close together with D20S19 to the chromosomal region 20q13.2. Both loci are potential candidates for the susceptibility to IGE spectra with age-related onset beyond the neonatal period. The present study tested the hypothesis that a putative susceptibility locus linked to D20S19 predisposes to spectra of IGEs with age-related onset from childhood to adolescence. Linkage analyses were conducted in 60 families ascertained through IGE patients with juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy. Our results provide evidence against linkage of a putative susceptibility gene for four hierarchically broadened IGE spectra with D20S19 assuming tentative single-locus genetic models. The extent of an {open_quotes}exclusion region{close_quotes} (lod scores below -2) varied from 0.5 cM up to 22 cM on either side of D2OSl9 depending on the trait assumed. These results are contrary to the expectation that a susceptibility gene in vicinity to D20S19 confers a common major gene effect to the expression of IGE spectra with age-related onset from childhood to adolescence. 50 refs., 1 fig., 1 tab.

  4. Herniated gyrus rectus causing idiopathic compression of the optic chiasm.

    PubMed

    Smith, Jacob; Jack, Megan M; Peterson, Jeremy C; Chamoun, Roukoz B

    2017-02-01

    Anomalies in the frontal lobe can interfere with visual function by compression of the optic chiasm and nerve. The gyrus rectus is located at the anterior cranial fossa floor superior to the intracranial optic nerves and chiasm. Compression of these structures by the gyrus rectus is often caused by neoplastic or dysplastic growth in the area. We report a rare case of a herniated gyrus rectus impinged on the optic chiasm and nerve without a clear pathological cause for the herniation.

  5. Hypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome).

    PubMed

    Tsai, Pei-Lin; Lian, Li-Ming; Chen, Wei-Hung

    2009-12-01

    The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcemia, and immunodeficiency. Neurological manifestations of the chromosome 22q11 deletion syndrome are variable, and include mental deficiency, speech disturbances, learning difficulties, attention deficit hyperactivity disorder, and epilepsy. Hypoparathyroidism and hypocalcemia cause recurrent seizures if patients are not properly treated. We present two patients with poorly controlled epileptic seizures that turned out to be caused by DiGeorge syndrome with hypocalcemia. For such patients, the definitive treatment of seizures depends on recognition of this syndrome and correction of the hypocalcemic state, rather than the use of anticonvulsants.

  6. The Human Epilepsy Mutation GABRG2(Q390X) Causes Chronic Subunit Accumulation and Neurodegeneration

    PubMed Central

    Kang, Jing-Qiong; Shen, Wangzhen; Zhou, Chengwen; Xu, Dong; Macdonald, Robert L.

    2015-01-01

    Genetic epilepsy and neurodegenerative diseases are two common neurological disorders conventionally viewed as being unrelated. A subset of patients with severe genetic epilepsies with impaired development and often death respond poorly to anticonvulsant drug therapy, suggesting a need for new therapeutic targets. Previously, we reported that multiple GABAA receptor epilepsy mutations caused protein misfolding and abnormal receptor trafficking. Here we establish in a novel model of a severe human genetic epileptic encephalopathy, the Gabrg2+/Q390X knock-in mouse, that in addition to impairing inhibitory neurotransmission, mutant GABAA receptor γ2(Q390X) subunits accumulated and aggregated intracellularly, activated caspase 3 and caused widespread, age-dependent neurodegeneration. These novel findings suggest that the fundamental protein metabolism and cellular consequences of the epilepsy-associated mutant γ2(Q390X) ion channel subunit are not fundamentally different from those associated with neurodegeneration. The study has far-reaching significance for identification of conserved pathological cascades and mechanism-based therapies that overlap genetic epilepsies and neurodegenerative diseases. PMID:26005849

  7. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

    PubMed Central

    de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van ‘t Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

    2016-01-01

    Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. Results All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Conclusions Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. PMID:27358180

  8. Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

    PubMed Central

    Marcián, Václav; Filip, Pavel; Bareš, Martin; Brázdil, Milan

    2016-01-01

    Basic epilepsy teachings assert that seizures arise from the cerebral cortex, glossing over infratentorial structures such as the cerebellum that are believed to modulate rather than generate seizures. Nonetheless, ataxia and other clinical findings in epileptic patients are slowly but inevitably drawing attention to this neural node. Tracing the evolution of this line of inquiry from the observed coincidence of cerebellar atrophy and cerebellar dysfunction (most apparently manifested as ataxia) in epilepsy to their close association, this review considers converging clinical, physiological, histological, and neuroimaging evidence that support incorporating the cerebellum into epilepsy pathology. We examine reports of still controversial cerebellar epilepsy, studies of cerebellar stimulation alleviating paroxysmal epileptic activity, studies and case reports of cerebellar lesions directly associated with seizures, and conditions in which ataxia is accompanied by epileptic seizures. Finally, the review substantiates the role of this complex brain structure in epilepsy whether by coincidence, as a consequence of deleterious cortical epileptic activity or antiepileptic drugs, or the very cause of the disease. PMID:27375960

  9. Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

    PubMed

    Marcián, Václav; Filip, Pavel; Bareš, Martin; Brázdil, Milan

    2016-01-01

    Basic epilepsy teachings assert that seizures arise from the cerebral cortex, glossing over infratentorial structures such as the cerebellum that are believed to modulate rather than generate seizures. Nonetheless, ataxia and other clinical findings in epileptic patients are slowly but inevitably drawing attention to this neural node. Tracing the evolution of this line of inquiry from the observed coincidence of cerebellar atrophy and cerebellar dysfunction (most apparently manifested as ataxia) in epilepsy to their close association, this review considers converging clinical, physiological, histological, and neuroimaging evidence that support incorporating the cerebellum into epilepsy pathology. We examine reports of still controversial cerebellar epilepsy, studies of cerebellar stimulation alleviating paroxysmal epileptic activity, studies and case reports of cerebellar lesions directly associated with seizures, and conditions in which ataxia is accompanied by epileptic seizures. Finally, the review substantiates the role of this complex brain structure in epilepsy whether by coincidence, as a consequence of deleterious cortical epileptic activity or antiepileptic drugs, or the very cause of the disease.

  10. Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

    PubMed

    Martins, H H; Alonso, N B; Vidal-Dourado, M; Carbonel, T D; de Araújo Filho, G M; Caboclo, L O; Yacubian, E M; Guilhoto, L M

    2011-11-01

    We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on a stable antiepileptic drug (AED) regimen and being treated in a Brazilian tertiary epilepsy center. Carbamazepine was the most commonly used AED (43.0%), followed by valproic acid (32.0%). Two or more AEDs were used by 69.0% of patients. The mean LAEP score (19 questions) was 37.6 (SD=13.35). The most common adverse effects were sleepiness (35.0%), memory problems (35.0%), and difficulty in concentrating (25.0%). Higher LAEP scores were associated with polytherapy with three or more AEDs (P=0.005), female gender (P<0.001), older age (P<0.001), and uncontrolled seizures (P=0.045). The intraclass coefficient (test-retest reliability) for LAEP overall score was 0.848 (95% CI=0.782-0.895), with a range from 0.370 (unsteadiness) to 0.750 (memory problems). Cronbach's α coefficient (internal consistency) was 0.903. The LAEP was highly correlated with Quality of Life in Epilepsy-31 inventory (r=-0.804, P>0.001) and Hospital Anxiety and Depression Scale (Depression: r=0.637, P<0.001; Anxiety: r=0.621, P<0.001) dimensions. LAEP overall scores were similar in people with SPE and IGE and were not helpful in differentiating adverse effects in these two groups. Clinical variables that influenced global LAEP were seizure frequency (P=0.050) and generalized tonic-clonic seizures in the last month (P=0.031) in the IGE group, and polytherapy with three or more AEDs (P=0.003 and P=0.003) in both IGE and SPE groups.

  11. Phenobarbital or potassium bromide as an add-on antiepileptic drug for the management of canine idiopathic epilepsy refractory to imepitoin.

    PubMed

    Royaux, E; Van Ham, L; Broeckx, B J G; Van Soens, I; Gielen, I; Deforce, D; Bhatti, S F M

    2017-02-01

    Imepitoin has recently been approved in Europe for the management of dogs with idiopathic epilepsy. Currently, there is no evidence-based information available on the efficacy of antiepileptic drugs used as additions to the therapeutic regimen in dogs with idiopathic epilepsy that are not well controlled with imepitoin. The goal of this study was to evaluate the efficacy of phenobarbital or potassium bromide (KBr) as add-on antiepileptic drugs for controlling dogs refractory to a maximum dose of imepitoin (30 mg/kg twice daily). The study was performed as a prospective, randomised, controlled clinical trial. The efficacy of phenobarbital and KBr was evaluated by comparing monthly seizure frequency (MSF), monthly seizure day frequency (MSDF), the presence of cluster seizures during a retrospective 2-month period with a prospective follow-up of 6 months, and the overall responder rate. Twenty-seven dogs were included in the study, 14 dogs in the phenobarbital group and 13 dogs in the KBr group. Both median MSF and MSDF decreased in the phenobarbital group (both P = 0.001) and in the KBr group (P = 0.004 and P = 0.003, respectively). Overall, the number of dogs with cluster seizures decreased (P = 0.0005). The responder rate was 79% vs. 69% in the phenobarbital and KBr groups, respectively. We conclude that phenobarbital or KBr add-on treatment decreases median MSF and MSDF in epileptic dogs refractory to a maximum dose of imepitoin. Combination therapy was generally well tolerated and resulted in an improvement in seizure management in the majority of the dogs.

  12. Cause-specific mortality in adult epilepsy patients from Tyrol, Austria: hospital-based study.

    PubMed

    Granbichler, Claudia A; Oberaigner, Willi; Kuchukhidze, Giorgi; Bauer, Gerhard; Ndayisaba, Jean-Pierre; Seppi, Klaus; Trinka, Eugen

    2015-01-01

    Epilepsy is a devastating condition with a considerable increase in mortality compared to the general population. Few studies have focused on cause-specific mortality which we analyse in detail in over 4,000 well-characterized epilepsy patients. The cohort comprised of epilepsy patients ≥ 18, treated between 1970 and 2009 at the epilepsy clinic of Innsbruck Medical University, Austria, and living in the province of Tyrol, Austria. Epilepsy diagnosis was based on ILAE guidelines (1989); patients with brain tumor were excluded. Deceased patients and causes of death (ICD-codes) were obtained via record linkage to the national death registry. We computed age-, sex-, and period-adjusted standardized mortality rates (SMR) for 36 diagnoses subgroups in four major groups. Additional analyses were performed for an incidence cohort. Overall cohort: 4,295 patients, 60,649.1 person-years, 822 deaths, overall SMR 1.7 (95 % CI 1.6-1.9), highest elevated cause-specific SMR: congenital anomalies [7.1 (95 % CI 2.3-16.6)], suicide [4.2 (95 % CI 2.0-8.1)], alcohol dependence syndrome [3.9 (95 % CI 1.8-7.4)], malignant neoplasm of esophagus [3.1 (95 % CI 1.2-6.4)], pneumonia [2.7 (95 % CI 1.6-4.2)]. Incidence cohort: 1,299 patients, 14,215.4 person-years, 267 deaths, overall SMR 1.8 (95 % CI 1.6-2.1), highest elevated cause-specific SMR congenital anomalies [10.8 (95 % CI 1.3-39.3)], suicide [6.8 (95 % CI 1.4-19.8)], alcohol dependence syndrome (6.4 [95 % CI 1.8-16.5)], pneumonia [3.9 (95 % CI 1.8-7.4)], cerebrovascular disease at 3.5 (95 % CI 2.6-4.6). Mortality due to mental health problems, such as suicide or alcohol dependence syndrome, malignant neoplasms, and cerebrovascular diseases was highly increased in our study. In addition to aim for seizure freedom, we suggest improving general health promotion, including cessation of smoking, lowering of alcohol intake, and reduction of weight as well as early identification of psychiatric comorbidity in patients with epilepsy.

  13. Indriven sphenoid wing as a cause of post-traumatic epilepsy.

    PubMed

    Sumer, M M; Atasoy, H T; Unal, A; Kalayci, M; Mahmutyazicioglu, K; Erdem, O

    2003-11-01

    Post-traumatic epilepsy is more frequent after severe head injuries, however the severity of the trauma is not always correlated with the injured brain tissue. We report a patient whose seizures developed 4 years after a face trauma. Upward displacement of the sphenoid wing caused a contusion at the orbital surface of the frontal lobe. Computed tomography, magnetic resonance imaging and electroencephalographic findings are presented. The patient responded well to commonly used antiepileptic drugs.

  14. Epilepsy - children

    MedlinePlus

    Seizure disorder - children; Convulsion - childhood epilepsy; Medically refractory childhood epilepsy; Anticonvulsant - childhood epilepsy; Antiepileptic drug - childhood epilepsy; AED - childhood epilepsy

  15. Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.

    PubMed

    Hawkins, Nicole A; Kearney, Jennifer A

    2016-01-01

    Mutations in voltage-gated sodium channel genes cause several types of human epilepsies. Often, individuals with the same sodium channel mutation exhibit diverse phenotypes. This suggests that factors beyond the primary mutation influence disease severity, including genetic modifiers. Mouse epilepsy models with voltage-gated sodium channel mutations exhibit strain-dependent phenotype variability, supporting a contribution of genetic modifiers in epilepsy. The Scn2a(Q54) (Q54) mouse model has a strain-dependent epilepsy phenotype. Q54 mice on the C57BL/6J (B6) strain exhibit delayed seizure onset and improved survival compared to [B6xSJL/J]F1.Q54 mice. We previously mapped two dominant modifier loci that influence Q54 seizure susceptibility and identified Hlf (hepatic leukemia factor) as a candidate modifier gene at one locus. Hlf and other PAR bZIP transcription factors had previously been associated with spontaneous seizures in mice thought to be caused by down-regulation of the pyridoxine pathway. An Hlf targeted knockout mouse model was used to evaluate the effect of Hlf deletion on Q54 phenotype severity. Hlf(KO/KO);Q54 double mutant mice exhibited elevated frequency and reduced survival compared to Q54 controls. To determine if direct modulation of the pyridoxine pathway could alter the Q54 phenotype, mice were maintained on a pyridoxine-deficient diet for 6 weeks. Dietary pyridoxine deficiency resulted in elevated seizure frequency and decreased survival in Q54 mice compared to control diet. To determine if Hlf could modify other epilepsies, Hlf(KO/+) mice were crossed with the Scn1a(KO/+) Dravet syndrome mouse model to examine the effect on premature lethality. Hlf(KO/+);Scn1a(KO/+) offspring exhibited decreased survival compared to Scn1a(KO/+) controls. Together these results demonstrate that Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations and that modulation of the pyridoxine pathway can also influence phenotype

  16. Idiopathic hypersomnia

    MedlinePlus

    ... page, please enable JavaScript. Idiopathic hypersomnia is a sleep disorder in which a person is excessively sleepy ( hypersomnia ) ... other potential causes of excessive daytime sleepiness. Other sleep disorders that may cause daytime sleepiness include: Narcolepsy Obstructive ...

  17. Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery.

    PubMed

    Niehusmann, Pitt; Surges, Rainer; von Wrede, Randi D; Elger, Christian E; Wellmer, Jörg; Reimann, Jens; Urbach, Horst; Vielhaber, Stefan; Bien, Christian G; Kunz, Wolfram S

    2011-01-01

    Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.

  18. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    PubMed

    Schubert, Julian; Siekierska, Aleksandra; Langlois, Mélanie; May, Patrick; Huneau, Clément; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R; de Kovel, Carolien G F; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R; Sander, Thomas; Rüschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskés, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H; Baulac, Stephanie; Møller, Rikke S; Hjalgrim, Helle; Koeleman, Bobby P C; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C; Glusman, Gustavo; Hood, Leroy; Galas, David J; Martin, Benoit; de Witte, Peter A M; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nürnberg, Peter; Crawford, Alexander D; Esguerra, Camila V; Weber, Yvonne G; Lerche, Holger

    2014-12-01

    Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature. Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.

  19. Abnormal Hypermethylation of the VDAC2 Promoter is a Potential Cause of Idiopathic Asthenospermia in Men

    PubMed Central

    Xu, Aiming; Hua, Yibo; Zhang, Jianzhong; Chen, Wei; Zhao, Kai; Xi, Wei; Wang, Hainan; Fang, Jianzheng; Su, Shifeng; Tang, Min; Liu, Bianjiang; Wang, Zengjun

    2016-01-01

    This study aimed to explore the association between the methylation status of the VDAC2 gene promoter region and idiopathic asthenospermia (IAS). Twenty-five IAS patients and 27 fertile normozoospermia (NZ) were involved. GC-2spd cells were treated with different concentrations of 5-aza-2′-deoxycytidine (5-Aza-CdR) for 24 h and 48 h. qRT-PCR was conducted to reveal whether or not VDAC2 expression was regulated by methylated modification. A dual-luciferase activity detection was used to verify VDAC2 promoter activity in GC-2spd cells. Bisulphite genomic sequence was used to analyse DNA methylation of the VDAC2 promoter. The results showed that VDAC2 expression was significantly increased after treated with 5-Aza-CdR. A strong activity of the promoter (−2000 bp to +1000 bp) was detected by dual-luciferase activity detection (P < 0.05). The bisulphite genomic sequencing and correlation analysis showed that sperm motility was positively associated with the methylation pattern of uncomplete methylation and mild hypermethylation, and negatively related to the percentage of moderate methylation. In conclusion, high methylation of the VDAC2 promoter CpGs could be positively correlated with low sperm motility. Abnormal methylation of VDAC2 promoter may be a potential cause to idiopathic asthenospermia. PMID:27892527

  20. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

    PubMed Central

    May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M. Arfan; van Duijn, Cornelia M.; Uitterlinden, Andre G.; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G.; Cilio, Maria Roberta; Kunz, Wolfram S.; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R.; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A.

    2016-01-01

    Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. Methods We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. Results and Interpretation We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10−4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions. PMID:26990884

  1. Brain maturation and epilepsy.

    PubMed

    Dulac, Olivier; Milh, Mathieu; Holmes, Gregory L

    2013-01-01

    At full term, both glutamate and gamma-amino-butyric acid (GABA) are excitatory; cortical synapses are beginning to appear, there is little myelin in the cerebral hemispheres, and long tracts hardly start to develop. Neonatal myoclonic encephalopathy can result from premature activation of N-methyl-D-aspartate (NMDA) transmission. Benign neonatal seizures and migrating partial seizures in infancy could involve excessive or premature excitability of deep cortical layers. Benign rolandic epilepsy and continuous spike waves in slow sleep are consistent with an excess of both excitatory and inhibitory cortical synapses. West and Lennox-Gastaut syndromes express age-related diffuse cortical hyperexcitability, the pattern depending on the age of occurrence; synchronization of spikes is becoming possible with maturation of the myelin. Idiopathic generalized epilepsy is itself modulated by maturation that causes frontal hyperexcitability generating myoclonic-astatic seizures, between the ages of infantile and juvenile myoclonic epilepsies. Physiological delay of hippocampo-neocortical pathways maturation could account for the delayed occurrence of mesial temporal epilepsy following infantile damage, whereas premature maturation could contribute to fronto-temporal damage characteristic of fever-induced epileptic encephalopathy in school-age children, a dramatic school-age epileptic encephalopathy.

  2. Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

    PubMed Central

    Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

    2010-01-01

    Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691

  3. Enigma (partially) resolved: phospholipase A2 receptor is the cause of "idiopathic" membranous glomerulonephritis.

    PubMed

    Truong, Luan D; Seshan, Surya V

    2015-12-15

    Membranous glomerulonephritis (MGN) is a very significant kidney disease. It is one of the frequent causes of heavy protein excretion in urine. MGN is thought to be an immune-mediated disease caused by glomerular deposition of antigen-antibody complexes. The pathogenic antigen, however, has been an enigma until recently. It was discovered in 2009 that phospholipase A2 receptor (PLA2R), a normal transmembrane protein in podocyte plasma membrane, is the antigen causing MGN. Within 5 yr of its discovery, this seminal finding has leaded to novel insights into the treatment of this disease including diagnosis, therapy, and prediction of outcome. This finding also paves the way for fundamental studies on how and why autoimmunity against PLA2R develops. The discovery of PLA2A as the cause of "idiopathic" MGN after a half century of speculation, followed by further fundamental insights with such an expedient and successful application in patient care, embodies the elegance of science at its junction with society. This perspective traces the story of this remarkable discovery.

  4. Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.

    PubMed

    Prasad, D K V; Shaheen, Uzma; Satyanarayana, U; Prabha, T Surya; Jyothy, A; Munshi, Anjana

    2014-10-01

    The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal neurological symptoms, structural brain lesions and are of unknown origin. A genetic etiology to IGEs has been proposed. Gamma amino butyric acid (GABA), a major inhibitory neurotransmitter acts by binding to transmembrane GABAA and GABAB receptors of both pre- and postsynaptic neurons. Synapsin II (SynII), a neuron specific phosphoprotein plays a major role in synaptogenesis and neurotransmitter release. The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE. Molecular analysis revealed that the frequency of 'CC' genotype and 'C'allele of GABRA6 (rs3219151) T>C gene polymorphism was significantly higher in IGE patients compared to healthy controls [CC vs. TT, χ2=26; p<0.001; Odds ratio=3.6 (95% CI; 2.1-5.9); C vs T, χ2=24.7; p<0.001; Odds ratio=1.78 (95% CI; 1.4-2.2)]. The frequency of 'GG' genotype and 'G' allele of the intronic polymorphism A>G in Syn II gene was also found to be significantly associated with the disease when compared to controls [GG vs AA, χ2=64.52; p<0.001; Odds ratio=7.37 (95% CI; 4.4-12.3); G vs. A, χ2=65.78; p<0.001; Odds ratio=2.57 (95% CI; 2.0-3.2)]. The generalized multifactor dimensionality reduction method was employed to detect gene-gene interactions. The gene-gene interaction at two loci involving GABRA6 and Syn II revealed a significant association [χ2=36.6, p<0.001, Odds ratio=3.17 (95% CI; 2.2-4.6)] with IGE. Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh. The gene-gene interaction studies demonstrated significant interactive effects

  5. New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation.

    PubMed

    Gurnett, Christina A; Hedera, Peter

    2007-03-01

    The majority of genes associated with epilepsy syndromes to date are ion channel genes. Selection bias may have allowed us to establish their role in epilepsy based on a priori knowledge of the significance of these proteins in regulating neuronal excitability. There are, however, more than 3000 genes expressed at the synapse, as well as many other genes expressed nearby in supporting cells and glia that can likewise regulate excitability. Identification of new genes involved in epilepsy may arise from studying the targets of anticonvulsant medications, ascertainment of an epileptic phenotype in mice, or as a result of positional cloning efforts. There are several loci for idiopathic focal and generalized epilepsies that lie in chromosomal regions that are devoid of known ion channels; therefore, the number of novel genes involved in epilepsy is likely to increase. Establishing the role of these novel genes in the pathogenesis of epilepsy has not been an easy task compared with the relative ease with which ion channel mutations can be studied. This review will describe several novel epilepsy genes and will then discuss other genetic causes of epilepsy, including alterations of chromosomal copy number and gene regulatory elements.

  6. Autoimmune encephalitis: A potentially reversible cause of status epilepticus, epilepsy, and cognitive decline

    PubMed Central

    Pandit, Awadh Kishor; Ihtisham, Kavish; Garg, Ajay; Gulati, Sheffali; Padma, Madakasira Vasantha; Tripathi, Manjari

    2013-01-01

    Objectives: To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE), epilepsy, and cognitive decline. Design: Observational, prospective case series. Setting: All India Institute of Medical Sciences, New Delhi, India. Materials and Methods: Prospective analysis of 15 patients, who presented with SE, epilepsy, cognitive decline, and other neurological symptoms with positive autoantibodies. Demographic and clinical characteristics were recorded. Brain magnetic resonance imaging (MRI), cerebrospinal-fluid analysis (CSF), and tumor screening were done periodically. Treatment received and responses (categorized as per patients and treating doctor's information) were noted. Results: There were 15 (males = 10) patients of autoimmune encephalitis. The mean age of presentation was 24 years (range: 2-64 years). The most common onset was subacute (64%) and four (29%) patients presented as SE. Predominant clinical presentations were seizures (100%) almost of every semiology. CSF was done in 10 patients; it was normal in 60%. Brain MRI was done in all patients, in six (40%) it was normal, six (40%) showed T2W and FLAIR hyperintensities in bilateral limbic areas. Antibodies found were the N-methyl-D-aspartate receptor antibody in seven (50%), voltage-gated potassium channel antibody in five (36%), two of antiglutamic acid decarboxylase, and one patient with double stranded DNA (dsDNA) antibodies. None showed evidence of malignancy. Patients received immunotherapy, either steroids, intravenous immunoglobulin, or both. Follow-up showed significant improvement in majority of cases, neither further seizures nor relapse in nine (67%) cases. One death occurred, due to delayed presentation. Conclusions: Uncommon but potentially reversible causes of SE, epilepsy, and cognitive decline may be immune-related and high index of suspicion will prevent missing the diagnosis. PMID:24339583

  7. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    PubMed Central

    Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

    2014-01-01

    Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

  8. Curative effect and costs of surgical and gamma knife treatments on intractable epilepsy caused by temporal-hippocampal sclerosis.

    PubMed

    Han, Z T; Chen, Q X

    2015-07-31

    This study aimed to investigate the curative effect and costs of surgical and gamma knife treatments on intractable epilepsy caused by temporal-hippocampal sclerosis. The subjects comprised patients who suffered from intractable epilepsy caused by temporal-hippocampal sclerosis and received treatment in the Department of Neurosurgery of our hospital between 2010 and 2011. After obtaining their consent, patients were evaluated and selected to receive surgical or gamma knife treatments. In the surgical group, the short-term curative rate was 92.60% and the average cost was US$ 1311.50 while in the gamma knife group, the short-term curative rate was 53.79%, and the average cost was US$ 2786.90. Both surgical and gamma knife treatments of intractable epilepsy caused by temporal-hippocampal sclerosis are safe and effective, but the short-term curative effect of surgical treatment is better than that of gamma knife, and its cost is lower.

  9. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

    PubMed

    Puffenberger, Erik G; Strauss, Kevin A; Ramsey, Keri E; Craig, David W; Stephan, Dietrich A; Robinson, Donna L; Hendrickson, Christine L; Gottlieb, Steven; Ramsay, David A; Siu, Victoria M; Heuer, Gregory G; Crino, Peter B; Morton, D Holmes

    2007-07-01

    We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity mapping was inconclusive, but closer inspection of the data followed by formal SNP copy number analyses showed that all affected patients had homozygous deletions of a single SNP (rs721575) and their parents were hemizygous for this marker. The deleted SNP marked a larger deletion encompassing exons 9-13 of LYK5, which encodes STE20-related adaptor protein, a pseudokinase necessary for proper localization and function of serine/threonine kinase 11 (a.k.a. LKB1). Homozygous LYK5 deletions were associated with polyhydramnios, preterm labour and distinctive craniofacial features. Affected children had large heads, infantile-onset intractable multifocal seizures and severe psychomotor retardation. We designated this condition PMSE syndrome (polyhydramnios, megalencephaly and symptomatic epilepsy). Thirty-eight percent (N = 16) of affected children died during childhood (ages 7 months to 6 years) from medical complications of the disorder, which included status epilepticus, congestive heart failure due to atrial septal defect and hypernatremic dehydration due to diabetes insipidus. A single post-mortem neuropathological study revealed megalencephaly, ventriculomegaly, cytomegaly and extensive vacuolization and astrocytosis of white matter. There was abundant anti-phospho-ribosomal S6 labelling of large cells within the frontal cortex, basal ganglia, hippocampus and spinal cord, consistent with constitutive activation of the mammalian target of rapamycin (mTOR) signalling pathway in brain.

  10. Management of multifactorial idiopathic epilepsy in EL mice with caloric restriction and the ketogenic diet: role of glucose and ketone bodies

    PubMed Central

    Mantis, John G; Centeno, Nicole A; Todorova, Mariana T; McGowan, Richard; Seyfried, Thomas N

    2004-01-01

    Background The high fat, low carbohydrate ketogenic diet (KD) was developed as an alternative to fasting for seizure management. While the mechanisms by which fasting and the KD inhibit seizures remain speculative, alterations in brain energy metabolism are likely involved. We previously showed that caloric restriction (CR) inhibits seizure susceptibility by reducing blood glucose in the epileptic EL mouse, a natural model for human multifactorial idiopathic epilepsy. In this study, we compared the antiepileptic and anticonvulsant efficacy of the KD with that of CR in adult EL mice with active epilepsy. EL mice that experienced at least 15 recurrent complex partial seizures were fed either a standard diet unrestricted (SD-UR) or restricted (SD-R), and either a KD unrestricted (KD-UR) or restricted (KD-R). All mice were fasted for 14 hrs prior to diet initiation. A new experimental design was used where each mouse in the diet-restricted groups served as its own control to achieve a 20–23% body weight reduction. Seizure susceptibility, body weights, and the levels of plasma glucose and β-hydroxybutyrate were measured once/week over a nine-week treatment period. Results Body weights and blood glucose levels remained high over the testing period in the SD-UR and the KD-UR groups, but were significantly (p < 0.001) reduced in the SD-R and KD-R groups. Plasma β-hydroxybutyrate levels were significantly (p < 0.001) increased in the SD-R and KD-R groups compared to their respective UR groups. Seizure susceptibility remained high in both UR-fed groups throughout the study, but was significantly reduced after three weeks in both R-fed groups. Conclusions The results indicate that seizure susceptibility in EL mice is dependent on plasma glucose levels and that seizure control is more associated with the amount than with the origin of dietary calories. Also, CR underlies the antiepileptic and anticonvulsant action of the KD in EL mice. A transition from glucose to ketone

  11. Postsurgical recurrence of osteophytes causing dysphagia in patients with diffuse idiopathic skeletal hyperostosis.

    PubMed

    Miyamoto, Kei; Sugiyama, Seiichi; Hosoe, Hideo; Iinuma, Nobuki; Suzuki, Yasushi; Shimizu, Katsuji

    2009-11-01

    Although cervical anterior osteophytes accompanying diffuse idiopathic skeletal hyperostosis (DISH) are generally asymptomatic, large osteophytes sometimes cause swallowing disorders. Surgical resection of the osteophyte has been reported to be an effective treatment; however, little study has been given to the recurrences of osteophytes. A prospective study was performed for seven patients who underwent surgical resection of cervical anterior osteophytes for the treatment of recalcitrant dysphagia caused by osteophytes that accompanied DISH. The seven patients were six men and one woman ranging in age from 55 to 78 years (mean age = 65 years). After a mean postoperative follow-up period of 9 years (range: 6-13 years), surgical outcomes were evaluated by symptom severity and plain radiographs of the cervical spine. On all operated intervertebral segments, the effect of postoperative intervertebral mobility (range of movement > 1 degree) on the incidence of recurrent osteophytic formation (width > 2 mm) was analyzed by Fisher's exact test. Complete relief of the dysphagia was obtained within one month postoperatively in five patients, while it was delayed for 3 months in two patients. All of the patients developed recurrent cervical osteophytic formation, with an average increase rate of approximately 1 mm/year following surgical resection. Of the 20 operated intervertebral segments, the incidence of recurrent osteophytes was significantly higher (P = 0.0013) in the 16 segments with mobility than in the four segments without mobility. Five of the seven patients remained asymptomatic, although radiological recurrence of osteophytes was seen at the final follow-up. The two remaining patients complained of moderate dysphagia 10 and 11 years after surgery, respectively; one of these two required re-operation due to progressive dysphagia 11 years postoperatively. In patients with cervical DISH and dysphagia, surgical resection of osteophytes resulted in a high likelihood

  12. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

    PubMed

    Coci, Emanuele G; Codutti, Luca; Fink, Christian; Bartsch, Sophie; Grüning, Gunnar; Lücke, Thomas; Kurth, Ingo; Riedel, Joachim

    2017-04-01

    Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine. Individuals affected by ALDH7A1 deficiency show pre-natal and post-natal seizures, which respond to oral pyridoxine but not to other pediatric anti-epileptic drugs. We discovered a novel missense mutation (c.566G > A, p.Gly189Glu) in homozygous state residing in the NAD+ binding domain coding region of exon 6 and affecting an highly conserved amino acid residue. The seizures stopped under post-natal pyridoxine therapy, nevertheless a longer follow-up is needed to evaluate the intellectual development of the child, who is additionally treated with oral l-arginine since the 13th month of life. Developmental delay with or without structural cortex abnormalities were reported in several patients. A brain MRI scan revealed hyperintense white matter in the right cerebellum compatible with cerebellar gliosis. Taken together, our studies enlarge the group of missense pathogenic mutations of ALDH7A1 gene and reveal a novel cerebellar finding within the PDE patients cohort.

  13. Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.

    PubMed

    Douaud, Marine; Feve, Katia; Pituello, Fabienne; Gourichon, David; Boitard, Simon; Leguern, Eric; Coquerelle, Gérard; Vieaud, Agathe; Batini, Cesira; Naquet, Robert; Vignal, Alain; Tixier-Boichard, Michèle; Pitel, Frédérique

    2011-01-01

    Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games. This is the most common reflex epilepsy in humans; it is characterized by the photoparoxysmal response, which is an abnormal electroencephalographic reaction, and seizures triggered by intermittent light stimulation. Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A) is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation. This mutation causes an aberrant splicing event and significantly reduces the level of SV2A mRNA in homozygous carriers. Levetiracetam, a second generation antiepileptic drug, is known to bind SV2A, and SV2A knock-out mice develop seizures soon after birth and usually die within three weeks. The Fepi chicken survives to adulthood and responds to levetiracetam, suggesting that the low-level expression of SV2A in these animals is sufficient to allow survival, but does not protect against seizures. Thus, the Fepi chicken model shows that the role of the SV2A pathway in the brain is conserved between birds and mammals, in spite of a large phylogenetic distance. The Fepi model appears particularly useful for further studies of physiopathology of reflex epilepsy, in comparison with induced models of epilepsy in rodents. Consequently, SV2A is a very attractive candidate gene for analysis in the context of both mono- and polygenic generalized epilepsies in humans.

  14. Cause-specific mortality among children and young adults with epilepsy: Results from the U.S. National Child Death Review Case Reporting System.

    PubMed

    Tian, Niu; Shaw, Esther C; Zack, Matthew; Kobau, Rosemarie; Dykstra, Heather; Covington, Theresa M

    2015-04-01

    We investigated causes of death in children and young adults with epilepsy by using data from the U.S. National Child Death Review Case Reporting System (NCDR-CRS), a passive surveillance system composed of comprehensive information related to deaths reviewed by local child death review teams. Information on a total of 48,697 deaths in children and young adults 28days to 24years of age, including 551 deaths with epilepsy and 48,146 deaths without epilepsy, was collected from 2004 through 2012 in 32 states. In a proportionate mortality analysis by official manner of death, decedents with epilepsy had a significantly higher percentage of natural deaths but significantly lower percentages of deaths due to accidents, homicide, and undetermined causes compared with persons without epilepsy. With respect to underlying causes of death, decedents with epilepsy had significantly higher percentages of deaths due to drowning and most medical conditions including pneumonia and congenital anomalies but lower percentages of deaths due to asphyxia, weapon use, and unknown causes compared with decedents without epilepsy. The increased percentages of deaths due to pneumonia and drowning in children and young adults with epilepsy suggest preventive interventions including immunization and better instruction and monitoring before or during swimming. State-specific and national population-based mortality studies of children and young adults with epilepsy are recommended.

  15. International Veterinary Epilepsy Task Force recommendations for a veterinary epilepsy-specific MRI protocol.

    PubMed

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena; Milne, Marjorie; Berendt, Mette; Bhatti, Sofie F M; De Risio, Luisa; Farqhuar, Robyn G; Fischer, Andrea; Matiasek, Kaspar; Muñana, Karen; Patterson, Edward E; Pakozdy, Akos; Penderis, Jacques; Platt, Simon; Podell, Michael; Potschka, Heidrun; Stein, Veronika M; Tipold, Andrea; Volk, Holger A

    2015-08-28

    Epilepsy is one of the most common chronic neurological diseases in veterinary practice. Magnetic resonance imaging (MRI) is regarded as an important diagnostic test to reach the diagnosis of idiopathic epilepsy. However, given that the diagnosis requires the exclusion of other differentials for seizures, the parameters for MRI examination should allow the detection of subtle lesions which may not be obvious with existing techniques. In addition, there are several differentials for idiopathic epilepsy in humans, for example some focal cortical dysplasias, which may only apparent with special sequences, imaging planes and/or particular techniques used in performing the MRI scan. As a result, there is a need to standardize MRI examination in veterinary patients with techniques that reliably diagnose subtle lesions, identify post-seizure changes, and which will allow for future identification of underlying causes of seizures not yet apparent in the veterinary literature.There is a need for a standardized veterinary epilepsy-specific MRI protocol which will facilitate more detailed examination of areas susceptible to generating and perpetuating seizures, is cost efficient, simple to perform and can be adapted for both low and high field scanners. Standardisation of imaging will improve clinical communication and uniformity of case definition between research studies. A 6-7 sequence epilepsy-specific MRI protocol for veterinary patients is proposed and further advanced MR and functional imaging is reviewed.

  16. Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

    PubMed

    Puranam, Ram S; He, Xiao Ping; Yao, Lijun; Le, Tri; Jang, Wonjo; Rehder, Catherine W; Lewis, Darrell V; McNamara, James O

    2015-06-10

    We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability.

  17. Aluminum-containing antacids as a cause of idiopathic Parkinson's disease.

    PubMed

    Altschuler, E

    1999-07-01

    The mechanism of pathogenesis of idiopathic Parkinson's disease (PD) is unknown. In a study of 200 PD patients and 200 age- and sex-matched controls, Strang noted a marked and statistically significant higher incidence of ulcers (diagnosed by X-ray or surgery) in the PD patients compared to the controls (14% to 4%). These results have been discussed but never explained. Studies have shown increased concentrations of aluminum in the substantia nigra of PD patients compared to controls. Aluminum is thought to be a cellular toxin. Here I suggest that aluminum, and in particular aluminum-containing antacids may contribute to the pathogenesis of idiopathic PD.

  18. Neurocysticercosis as a Cause of Epilepsy and Seizures in Two Community-Based Studies in a Cysticercosis-Endemic Region in Peru

    PubMed Central

    Moyano, Luz M.; Saito, Mayuko; Montano, Silvia M.; Gonzalvez, Guillermo; Olaya, Sandra; Ayvar, Viterbo; González, Isidro; Larrauri, Luis; Tsang, Victor C. W.; Llanos, Fernando; Rodríguez, Silvia; Gonzalez, Armando E.; Gilman, Robert H.; Garcia, Hector H.

    2014-01-01

    Background The prevalence of epilepsy added to inadequate treatment results in chronic morbidity and considerable mortality in poor populations. Neurocysticercosis (NCC), a helminthic disease of the central nervous system, is a leading cause of seizures and epilepsy in most of the world. Methods Taking advantage of a cysticercosis elimination program, we performed two community-based cross-sectional studies between 2006 and 2007 in 58 rural communities (population 20,610) to assess the prevalence and characteristics of epilepsy and epileptic seizures in this endemic region. Serological and computed tomography (CT) data in individuals with epilepsy were compared to previous surveys in general population from the same region. Principal findings In two surveys, 17,450 individuals were evaluated. Lifetime prevalence of epilepsy was 17.25/1000, and prevalence of active epilepsy was 10.8/1000 inhabitants. The prevalence of epilepsy increased after age 25 years and dropped after age 45. Only 24% (45/188) of patients with active epilepsy were taking antiepileptic drugs, all at sub-therapeutic doses. Antibodies to cysticercosis were found in approximately 40% of individuals with epilepsy in both studies. In one survey only individuals presenting strong antibody reactions were significantly associated with having epilepsy (OR 5.74; p<0.001). In the second, the seroprevalence as well as the proportion presenting strong antibody reactions were both significantly higher in individuals with epilepsy (OR 2.2 and 4.33, respectively). Brain CT showed NCC-compatible images in 109/282 individuals with epilepsy (39%). All individuals with viable parasites on CT were seropositive. Conclusion The prevalence of epilepsy in this cysticercosis endemic region is high and NCC is an important contributor to it. PMID:24551255

  19. Historical documents on epilepsy: From antiquity through the 20th century.

    PubMed

    Panteliadis, Christos P; Vassilyadi, Photios; Fehlert, Julia; Hagel, Christian

    2017-02-26

    Historical documents dating back almost 4500years have alluded to the condition of epilepsy, describing signs and symptoms that are well-known today. Epilepsy was thought to be a mystical disorder by almost all Ancient cultures, including the Babylonians, Egyptians, Greeks, Indians, Iranians and Chinese. Hippocrates was the first to de-mystify the condition of epilepsy, providing a more scientific approach to the condition. As the signs and symptoms of epilepsy occurred without an obvious cause, the idea stood that it was a mystical phenomenon of divine punishment. This portrayal persisted through the early centuries of the common era, including the Middle Ages. It was not until the 16th and 17th century that Paracelsus, le Pois and Sylvius started to investigate internal causes for epilepsy. By the beginning of the 18th century, the general opinion on epilepsy was that it was an idiopathic disease residing in the brain and other inner organs. This resulted in Tissot writing the first modern book on epilepsy. Research continued in the 19th century with Jackson describing different types of seizures and many researchers showing interest in electroencephalography (EEG). The 20th century saw more detailed research being done on epilepsy and EEG, in addition to the establishment of many epilepsy-associated medical societies. The goal of this historical documentation is to provide an overview of the most important milestones in the history of epilepsy.

  20. Myoclonus and epilepsies.

    PubMed

    Fejerman, N

    1997-01-01

    The possible associations of myoclonic phenomenae, progressive or non-progressive encephalopathies and epileptic features are reviewed, with special emphasis on pediatric age. This leads to recognize the following five groups of conditions: (1) Myoclonus without encephalopathy and without epilepsy; (2) Encephalopathies with non-epileptic myoclonus; (3) Progressive encephalopathies presenting myoclonus seizures of epileptic syndromes (Progressive myoclonus epilepsies); (4) Epileptic encephalopathies with myoclonic seizures; (5) Myoclonic epilepsies. Within the first group, which also includes physiologic myoclonus, a more thorough description of "Benign sleep myoclonus of newborn" and "Benign myoclonus of early infancy" is given. Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed. The fourth group refers to severe epilepsies, mainly on infancy and childhood, which lead to mental retardation irrespective of their aetiology. Group 5 comprises the true myoclonic epilepsies, differentiating syndromes recognized as idiopathic--such as "Benign myoclonic epilepsy of infancy" and "Juvenile myoclonic epilepsy"--from those which are cryptogenic and carry a more cautious prognosis--as "Cryptogenic myoclonic and myoclonoastatic epilepsies" and "Severe myoclonic epilepsy of infancy". Other epileptic syndromes not usually considered as myoclonic epilepsies, but presenting sometimes as myoclonic seizures, are finally referred.

  1. Inappropriate phosphate excretion in idiopathic hypercalciuria: the key to a common cause and future treatment?

    PubMed Central

    Williams, C P; Child, D F; Hudson, P R; Soysa, L D; Davies, G K; Davies, M G; De Bolla, A R

    1996-01-01

    to serum calcium concentrations within the patient and control groups. CONCLUSIONS: It is proposed that patients with idiopathic hypercalciuria have an "inappropriately' high phosphate excretion for any given serum calcium concentration. Loss of phosphate may induce increased activation of 1,25-(OH)2-vitamin D. Some of the commonly described causes of stone formation may be manifestations of a single mechanism. PMID:8944605

  2. Exacerbation of idiopathic paroxysmal kinesigenic dyskinesia in remission state caused by secondary hypoparathyroidism with hypocalcemia after thyroidectomy: evidence for ion channelopathy.

    PubMed

    Jin, Dongkwan; Yoon, Won Tae; Suh, Bum Chun; Moon, Heui-Soo; Chung, Pil-Wook; Kim, Yong Bum

    2012-11-01

    Most reported cases of paroxysmal kinesigenic dyskinesia (PKD) are idiopathic or familial; however, hypoparathyroidism is another unusual cause of secondary PKD. The pathomechanism of PKD remains poorly understood, and the association between idiopathic and secondary PKD remains an enigma, and has yet to be clearly elucidated. We recently encountered a patient with idiopathic PKD whose symptoms were aggravated by secondary hypoparathyroidism with hypocalcemia after having undergone a thyroidectomy. The patient's paroxysms were ameliorated by the normalization of serum calcium levels. The results discussed herein may provide support for the hypothesis that PKD is associated with neuronal ion regulation.

  3. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    PubMed Central

    Muona, Mikko; Berkovic, Samuel F; Dibbens, Leanne M; Oliver, Karen L; Maljevic, Snezana; Bayly, Marta A; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E; Hildebrand, Michael S; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D; Ozkara, Cigdem; Andrade, Danielle M; Engelsen, Bernt A; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E; Daly, Mark J; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina

    2014-01-01

    Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures, and ataxia. We exome-sequenced 84 unrelated PME patients of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation c.959G>A (p.Arg320His) in KCNC1 was identified as a novel major cause for PME. Eleven unrelated exome-sequenced (13%) and two patients in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3.1, a subunit of the KV3 voltage-gated K+ channels, major determinants of high-frequency neuronal firing. Functional analysis of the p.Arg320His mutant channel revealed a dominant-negative loss-of-function effect. Ten patients had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6, SERPINI1). Identification of mutations in PRNP, SACS, and TBC1D24 expand their phenotypic spectrum to PME. These findings provide important insights into the molecular genetic basis of PME and reveal the role of de novo mutations in this disease entity. PMID:25401298

  4. Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    PubMed Central

    Basel-Vanagaite, Lina; Hershkovitz, Tova; Heyman, Eli; Raspall-Chaure, Miquel; Kakar, Naseebullah; Smirin-Yosef, Pola; Vila-Pueyo, Marta; Kornreich, Liora; Thiele, Holger; Bode, Harald; Lagovsky, Irina; Dahary, Dvir; Haviv, Ami; Hubshman, Monika Weisz; Pasmanik-Chor, Metsada; Nürnberg, Peter; Gothelf, Doron; Kubisch, Christian; Shohat, Mordechai; Macaya, Alfons; Borck, Guntram

    2013-01-01

    Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent developmental milestones, as well as thick and short corpus callosum and persistent cavum septum pellucidum on brain MRI. Using whole-exome sequencing, we identified biallelic mutations in seizure threshold 2 (SZT2) in both affected children. The causative mutations include a homozygous nonsense mutation and a nonsense mutation together with an exonic splice-site mutation in a compound-heterozygous state. The latter mutation leads to exon skipping and premature termination of translation, as shown by RT-PCR in blood RNA of the affected boy. Thus, all three mutations are predicted to result in nonsense-mediated mRNA decay and/or premature protein truncation and thereby loss of SZT2 function. Although the molecular role of the peroxisomal protein SZT2 in neuronal excitability and brain development remains to be defined, Szt2 has been shown to influence seizure threshold and epileptogenesis in mice, consistent with our findings in humans. We conclude that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies. PMID:23932106

  5. Superficial brachial artery: A possible cause for idiopathic median nerve entrapment neuropathy.

    PubMed

    Nkomozepi, Pilani; Xhakaza, Nkosi; Swanepoel, Elaine

    2017-02-15

    Nerve entrapment syndromes occur because of anatomic constraints at specific locations in both upper and lower limbs. Anatomical locations prone to nerve entrapment syndromes include sites where a nerve courses through fibro-osseous or fibromuscular tunnels or penetrates a muscle. The median nerve (MN) can be entrapped by the ligament of Struthers; thickened biceps aponeurosis; between the superficial and deep heads of the pronator teres muscle and by a thickened proximal edge of flexor digitorum superficialis muscle. A few cases of MN neuropathies encountered are reported to be idiopathic. The superficial branchial artery (SBA) is defined as the artery running superficial to MN or its roots. This divergence from normal anatomy may be the possible explanation for idiopathic median nerve entrapment neuropathy. This study presents three cases with unilateral presence of the SBA encountered during routine undergraduate dissection at the University of Johannesburg. Case 1: SBA divided into radial and ulnar arteries. Brachial artery (BA) terminated as deep brachial artery. Case 2: SBA continued as radial artery (RA). BA terminated as ulnar artery (UA), anterior and posterior interosseous arteries. Case 3: SBA continued as UA. BA divided into radial and common interosseous arteries. Arteries that take an unusual course are more vulnerable to iatrogenic injury during surgical procedures and may disturb the evaluation of angiographic images during diagnosis. In particular, the presence of SBA may be a course of idiopathic neuropathies.

  6. Audiometric comparison of Lassa fever hearing loss and idiopathic sudden hearing loss: evidence for viral cause.

    PubMed

    Liao, B S; Byl, F M; Adour, K K

    1992-03-01

    A recently published prospective study on acute sensorineural deafness in Lassa fever among a West African population showed the audiometric pattern of a known virally induced hearing loss. Using the audiometric data from the patients with Lassa fever in that study, we analyzed and classified the initial hearing loss and final recovery into three groups by pure-tone average values and then did the same for 222 patients with idiopathic sudden hearing loss (SHL) in our study. Statistical analyses of the severity of initial hearing loss and the hearing recovery pattern indicate that the clinical course of our 222 patients with idiopathic SHL showed no statistically significant differences from the clinical course of the patients with Lassa fever. We found a marked difference in age, however, and a clinically significant difference in the incidence of bilateral hearing loss. In reviewing the literature on sudden sensorineural hearing loss, we found no apparent relation between severity of viral illness and initial hearing loss or subsequent recovery. Cummins et al. suggest that virally induced hearing loss in Lassa fever is linked to the host's immune response and not to the viremia. We thus propose a virally induced immune response mechanism for idiopathic sensorineural SHL. Further prospective studies are needed for verification.

  7. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

    PubMed Central

    Hildebrand, Michael S; Tankard, Rick; Gazina, Elena V; Damiano, John A; Lawrence, Kate M; Dahl, Hans-Henrik M; Regan, Brigid M; Shearer, Aiden Eliot; Smith, Richard J H; Marini, Carla; Guerrini, Renzo; Labate, Angelo; Gambardella, Antonio; Tinuper, Paolo; Lichetta, Laura; Baldassari, Sara; Bisulli, Francesca; Pippucci, Tommaso; Scheffer, Ingrid E; Reid, Christopher A; Petrou, Steven; Bahlo, Melanie; Berkovic, Samuel F

    2015-01-01

    Objective Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene. Methods Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation. Results Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1.5 and 1.93. Exome variant filtering under these peaks revealed that the affected siblings were homozygous for a novel splice site mutation (c.93+2T>C) in the PRIMA1 gene on chromosome 14. No additional PRIMA1 mutations were found in 300 other NFLE cases. The c.93+2T>C mutation was shown to lead to skipping of the first coding exon of the PRIMA1 mRNA using a minigene system. Interpretation PRIMA1 is a transmembrane protein that anchors acetylcholinesterase (AChE), an enzyme hydrolyzing acetycholine, to membrane rafts of neurons. PRiMA knockout mice have reduction of AChE and accumulation of acetylcholine at the synapse; our minigene analysis suggests that the c.93+2T>C mutation leads to knockout of PRIMA1. Mutations with gain of function effects in acetylcholine receptor subunits cause autosomal dominant NFLE. Thus, enhanced cholinergic responses are the likely cause of the severe NFLE and intellectual disability segregating in this family, representing the first recessive case to be reported and the first PRIMA1 mutation implicated in disease. PMID:26339676

  8. Epilepsy-associated genes.

    PubMed

    Wang, Jie; Lin, Zhi-Jian; Liu, Liu; Xu, Hai-Qing; Shi, Yi-Wu; Yi, Yong-Hong; He, Na; Liao, Wei-Ping

    2017-01-01

    Development in genetic technology has led to the identification of an increasing number of genes associated with epilepsy. These discoveries will both provide the basis for including genetic tests in clinical practice and improve diagnosis and treatment of epilepsy. By searching through several databases (OMIM, HGMD, and EpilepsyGene) and recent publications on PubMed, we found 977 genes that are associated with epilepsy. We classified these genes into 4 categories according to the manifestation of epilepsy in phenotypes. We found 84 genes that are considered as epilepsy genes: genes that cause epilepsies or syndromes with epilepsy as the core symptom. 73 genes were listed as neurodevelopment-associated genes: genes associated with both brain-development malformations and epilepsy. Several genes (536) were epilepsy-related: genes associated with both physical or other systemic abnormalities and epilepsy or seizures. We found 284 additional genes putatively associated with epilepsy; this requires further verification. These integrated data will provide new insights useful for both including genetic tests in the clinical practice and evaluating the results of genetic tests. We also summarized the epilepsy-associated genes according to their function, with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms underlying epilepsy.

  9. Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

    PubMed

    Pröschel, Christoph; Hansen, Jeanne N; Ali, Adil; Tuttle, Emily; Lacagnina, Michelle; Buscaglia, Georgia; Halterman, Marc W; Paciorkowski, Alex R

    2017-02-01

    SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence variations in human neurons. Primary human fetal cortical neurons were transfected with a lentiviral vector to overexpress wild-type and mutant SIK1 protein. We evaluated the transcriptional activity of known downstream gene targets in neurons expressing mutant SIK1 compared with wild type. We then assayed neuronal morphology by measuring neurite length, number and branching. Truncating SIK1 sequence variations were associated with abnormal MEF2C transcriptional activity and decreased MEF2C protein levels. Epilepsy-causing SIK1 sequence variations were associated with significantly decreased expression of ARC (activity-regulated cytoskeletal-associated) and other synaptic activity response element genes. Assay of mRNA levels for other MEF2C target genes NR4A1 (Nur77) and NRG1, found significantly, decreased the expression of these genes as well. The missense p.(Pro287Thr) SIK1 sequence variation was associated with abnormal neuronal morphology, with significant decreases in mean neurite length, mean number of neurites and a significant increase in proximal branches compared with wild type. Epilepsy-causing SIK1 sequence variations resulted in abnormalities in the MEF2C-ARC pathway of neuronal development and synapse activity response. This work provides the first insights into the mechanisms of pathogenesis in SIK1 syndrome, and extends the ARX-MEF2C pathway in the pathogenesis of developmental epilepsy.

  10. Evaluating the Efficacy of Teaching Methods Regarding Prevention of Human Epilepsy Caused by Taenia solium Neurocysticercosis in Western Kenya

    PubMed Central

    Wohlgemut, Jared; Dewey, Cate; Levy, Mike; Mutua, Florence

    2010-01-01

    Taenia solium neurocysticercosis is a major cause of adult-onset epilepsy in developing countries. A questionnaire was administered to 282 Kenyan farmers, followed by a workshop, a second questionnaire, one-on-one training, and a third questionnaire. People who attended workshops were more likely to know how T. solium causes epilepsy in humans in the third visit than the second (P = 0.001). The likelihood that farmers would tether their pigs 100% of the time, limiting exposure to tapeworm eggs, increased after the first (P < 0.001) and second visits (P < 0.001). Farmers were more likely to have heard of Cysticercus cellulosae in the second (P = 0.001) and third visits (P = 0.007), and to know how pigs acquire infection in the second (P = 0.03) and third visits (P = 0.003). Farmers with at least a grade 8 education were more likely to know how T. solium is transmitted to humans in the second (P = 0.001) and third visits (P = 0.009), and were more likely to understand the relationship between epilepsy and T. solium in the second (P = 0.03) and third visits (P = 0.03). Grade 8 education may enhance learning from written material. Workshops followed by individual on-farm training enhanced knowledge acquisition and behavior changes. Training local government extension workers contributed to the sustainability of this project. PMID:20348512

  11. Evaluating the efficacy of teaching methods regarding prevention of human epilepsy caused by Taenia solium neurocysticercosis in Western Kenya.

    PubMed

    Wohlgemut, Jared; Dewey, Cate; Levy, Mike; Mutua, Florence

    2010-04-01

    Taenia solium neurocysticercosis is a major cause of adult-onset epilepsy in developing countries. A questionnaire was administered to 282 Kenyan farmers, followed by a workshop, a second questionnaire, one-on-one training, and a third questionnaire. People who attended workshops were more likely to know how T. solium causes epilepsy in humans in the third visit than the second (P = 0.001). The likelihood that farmers would tether their pigs 100% of the time, limiting exposure to tapeworm eggs, increased after the first (P < 0.001) and second visits (P < 0.001). Farmers were more likely to have heard of Cysticercus cellulosae in the second (P = 0.001) and third visits (P = 0.007), and to know how pigs acquire infection in the second (P = 0.03) and third visits (P = 0.003). Farmers with at least a grade 8 education were more likely to know how T. solium is transmitted to humans in the second (P = 0.001) and third visits (P = 0.009), and were more likely to understand the relationship between epilepsy and T. solium in the second (P = 0.03) and third visits (P = 0.03). Grade 8 education may enhance learning from written material. Workshops followed by individual on-farm training enhanced knowledge acquisition and behavior changes. Training local government extension workers contributed to the sustainability of this project.

  12. Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

    PubMed

    Horvath, Gabriella A; Demos, Michelle; Shyr, Casper; Matthews, Allison; Zhang, Linhua; Race, Simone; Stockler-Ipsiroglu, Sylvia; Van Allen, Margot I; Mancarci, Ogan; Toker, Lilah; Pavlidis, Paul; Ross, Colin J; Wasserman, Wyeth W; Trump, Natalie; Heales, Simon; Pope, Simon; Cross, J Helen; van Karnebeek, Clara D M

    2016-01-01

    We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a 10-year old male with early onset global developmental delay, intermittent ataxia, autism, hypotonia, epileptic encephalopathy and cerebral/cerebellar atrophy. In the cerebrospinal fluid both homovanillic acid and 5-hydroxyindoleacetic acid were significantly decreased; extensive biochemical and genetic investigations ruled out primary neurotransmitter deficiencies and other known inborn errors of metabolism. In an 8-year old female with an early onset intractable epileptic encephalopathy, developmental regression, and progressive cerebellar atrophy, a previously unreported de novo missense mutation was identified in SCN8A (c.5615G>A; p.Arg1872Gln), affecting a highly conserved residue located in the C-terminal of the Nav1.6 protein. Aside from decreased homovanillic acid and 5-hydroxyindoleacetic acid, 5-methyltetrahydrofolate was also found to be low. We hypothesize that these channelopathies cause abnormal synaptic mono-amine metabolite secretion/uptake via impaired vesicular release and imbalance in electrochemical ion gradients, which in turn aggravate the seizures. Treatment with oral 5-hydroxytryptophan, l-Dopa/Carbidopa, and a dopa agonist resulted in mild improvement of seizure control in the male case, most likely via dopamine and serotonin receptor activated signal transduction and modulation of glutamatergic, GABA-ergic and glycinergic neurotransmission. Neurotransmitter analysis in other sodium channelopathy patients will help validate our findings, potentially yielding novel treatment opportunities.

  13. Genetics of epilepsy

    PubMed Central

    Vadlamudi, Lata; Milne, Roger L.; Lawrence, Kate; Heron, Sarah E.; Eckhaus, Jazmin; Keay, Deborah; Connellan, Mary; Torn-Broers, Yvonne; Howell, R. Anne; Mulley, John C.; Scheffer, Ingrid E.; Dibbens, Leanne M.; Hopper, John L.

    2014-01-01

    Objective: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicability of the 2010 International League Against Epilepsy (ILAE) organization of epilepsy syndromes, and to integrate molecular genetics with phenotypic analyses. Methods: A total of 558 twin pairs suspected to have epilepsy were ascertained from twin registries (69%) or referral (31%). Casewise concordance estimates were calculated for epilepsy syndromes. Epilepsies were then grouped according to the 2010 ILAE organizational scheme. Molecular genetic information was utilized where applicable. Results: Of 558 twin pairs, 418 had confirmed seizures. A total of 534 twin individuals were affected. There were higher twin concordance estimates for monozygotic (MZ) than for dizygotic (DZ) twins for idiopathic generalized epilepsies (MZ = 0.77; DZ = 0.35), genetic epilepsy with febrile seizures plus (MZ = 0.85; DZ = 0.25), and focal epilepsies (MZ = 0.40; DZ = 0.03). Utilizing the 2010 ILAE scheme, the twin data clearly demonstrated genetic influences in the syndromes designated as genetic. Of the 384 tested twin individuals, 10.9% had mutations of large effect in known epilepsy genes or carried validated susceptibility alleles. Conclusions: Twin studies confirm clear genetic influences for specific epilepsies. Analysis of the twin sample using the 2010 ILAE scheme strongly supported the validity of grouping the “genetic” syndromes together and shows this organizational scheme to be a more flexible and biologically meaningful system than previous classifications. Successful selected molecular testing applied to this cohort is the prelude to future large-scale next-generation sequencing of epilepsy research cohorts. Insights into genetic architecture provided by twin studies provide essential data for optimizing such approaches. PMID:25107880

  14. Prognostic factors for outcome in pediatric probable lesional frontal lobe epilepsy with an unknown cause (cryptogenic).

    PubMed

    Lee, Inn-Chi; Chen, Yung-Jung; Lee, Hong-Shen; Li, Shuan-Yow

    2014-12-01

    The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, including the degree of intellectual disability/developmental delay (P = .002) and seizure frequency (P = .02) after adequate treatment. Intellectual disability was more prevalent in children with a first seizure at 0 to 3 years old (P = .002), and seizures were more frequent in those with a first seizure at 0 to 6 years old than at 7 to 16 years old (P = .026). For pediatric cryptogenic frontal lobe epilepsy, the age at first seizure is important and inversely correlated with outcome, including seizure frequency and intellectual disability.

  15. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

    PubMed Central

    Wielaender, Franziska; Sarviaho, Riika; James, Fiona; Hytönen, Marjo K.; Cortez, Miguel A.; Kluger, Gerhard; Koskinen, Lotta L. E.; Arumilli, Meharji; Kornberg, Marion; Bathen-Noethen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie F. M.; Hülsmeyer, Velia; Boettcher, Irene C.; Tästensen, Carina; Flegel, Thomas; Leeb, Tosso; Matiasek, Kaspar; Fischer, Andrea; Lohi, Hannes

    2017-01-01

    The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization. PMID:28223533

  16. Understanding the burden of idiopathic generalized epilepsy in the United States, Europe, and Brazil: An analysis from the National Health and Wellness Survey.

    PubMed

    Gupta, Shaloo; Kwan, Patrick; Faught, Edward; Tsong, Wan; Forsythe, Anna; Ryvlin, Phillipe

    2016-02-01

    The aim of this study was to understand the current burden of primary generalized tonic-clonic seizures (PGTCS) associated with idiopathic generalized epilepsy (IGE) as a function of seizure frequency. We analyzed data for (IGE) as a proxy measure of PGTCS. Little is known about the quality of life (QoL), health utility, productivity, healthcare resource utilization (HRU), and cost burden of PGTCS or IGE. Patients were identified from the US (2011, 2012, & 2013), 5EU (2011 & 2013), and Brazil (2011 & 2012) National Health and Wellness Survey, a nationally representative, internet-based survey of adults (18+ years). Patients that self-reported a diagnosis of IGE were categorized into seizure frequencies of: ≥1 seizure per week, 1-3 seizures per month, 1-4 seizures per year, or <1 seizure per year. QoL was measured using the SF-36v2 Mental (MCS) and Physical Component Summary (PCS) scores, health utilities with the SF-6D, productivity with the Work Productivity and Activity Impairment (WPAI) questionnaire, and HRU as reported in the past six months. Unit costs were estimated from the literature and multiplied against HRU values to calculate direct costs and WPAI values to calculate indirect costs. Generalized linear regression was utilized to examine the relationship between seizure frequency and each measure of burden with adjustment for covariates. Out of the general population surveyed, IGE was self-reported in 782 of 176,093 (US), 172 of 30,000 (UK), 106 of 30,001 (Germany), 87 of 30,000 (France), 31 of 12,011 (Spain), 22 of 17,500 (Italy), and 34 of 24,000 (Brazil). Persistent seizures (≥1 per year) were reported in over 40% of patients with IGE (10-15% with ≥1 seizure per week, 10-15% with 1-3 seizures per month, 20-25% with 1-4 seizures per year). Over 75% were treated with antiepileptic drugs (AEDs). Compared with those having <1 seizure per year (reference group), patients in the two most frequent seizure categories reported worse MCS and PCS scores

  17. Disruption of Fgf13 Causes Synaptic Excitatory–Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

    PubMed Central

    Puranam, Ram S.; He, Xiao Ping; Yao, Lijun; Le, Tri; Jang, Wonjo; Rehder, Catherine W.; Lewis, Darrell V.

    2015-01-01

    We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed “Genetic Epilepsy and Febrile Seizures Plus” (GEFS+). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na+ channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability. PMID:26063919

  18. Orofacial Pain--Part II: Assessment and management of vascular, neurovascular, idiopathic, secondary, and psychogenic causes.

    PubMed

    Sarlani, Eleni; Balciunas, Birute A; Grace, Edward G

    2005-01-01

    Chronic orofacial pain is a common health complaint faced by health practitioners today and constitutes a challenging diagnostic problem that often requires a multidisciplinary approach to diagnosis and treatment. The previous article by the same authors in this issue discussed the major clinical characteristics and the treatment of various musculoskeletal and neuropathic orofacial pain conditions. This second article presents aspects of vascular, neurovascular, and idiopathic orofacial pain, as well as orofacial pain due to various local, distant, or systemic diseases and psychogenic orofacial pain. The emphasis in this article is on the general differential diagnosis and various therapeutic regimens of each of these conditions. An accurate diagnosis is the key to successful treatment of chronic orofacial pain. Given that for many of the entities discussed in this article no curative treatment is available, current standards of management are emphasized. A comprehensive reference section has been included for those who wish to gain further information on a particular entity.

  19. Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

    PubMed Central

    Rehman, Atteeq U.; Santos-Cortez, Regie Lyn P.; Morell, Robert J.; Drummond, Meghan C.; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A.; Basra, Muhammad Asim R.; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A.; Raza, Syed I.; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N.; Friedman, Penelope L.; Griffith, Andrew J.; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M.; Friedman, Thomas B.

    2014-01-01

    Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In this study, whole-exome sequencing was performed with genomic DNA from affected individuals from three large consanguineous families in which markers linked to DFNB86 segregate with profound deafness. Analyses of these data revealed homozygous mutation c.208G>T (p.Asp70Tyr) or c.878G>C (p.Arg293Pro) in TBC1D24 as the underlying cause of deafness in the three families. Sanger sequence analysis of TBC1D24 in an additional large family in which deafness segregates with DFNB86 identified the c.208G>T (p.Asp70Tyr) substitution. These mutations affect TBC1D24 amino acid residues that are conserved in orthologs ranging from fruit fly to human. Neither variant was observed in databases of single-nucleotide variants or in 634 chromosomes from ethnically matched control subjects. TBC1D24 in the mouse inner ear was immunolocalized predominantly to spiral ganglion neurons, indicating that DFNB86 deafness might be an auditory neuropathy spectrum disorder. Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death. Two of our four families in which deafness segregates with mutant alleles of TBC1D24 were available for neurological examination. Cosegregation of epilepsy and deafness was not observed in these two families. Although the causal relationship between genotype and phenotype is not presently understood, our findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness. PMID:24387994

  20. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

    PubMed

    Rehman, Atteeq U; Santos-Cortez, Regie Lyn P; Morell, Robert J; Drummond, Meghan C; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A; Basra, Muhammad Asim R; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A; Raza, Syed I; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N; Friedman, Penelope L; Griffith, Andrew J; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M; Friedman, Thomas B

    2014-01-02

    Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In this study, whole-exome sequencing was performed with genomic DNA from affected individuals from three large consanguineous families in which markers linked to DFNB86 segregate with profound deafness. Analyses of these data revealed homozygous mutation c.208G>T (p.Asp70Tyr) or c.878G>C (p.Arg293Pro) in TBC1D24 as the underlying cause of deafness in the three families. Sanger sequence analysis of TBC1D24 in an additional large family in which deafness segregates with DFNB86 identified the c.208G>T (p.Asp70Tyr) substitution. These mutations affect TBC1D24 amino acid residues that are conserved in orthologs ranging from fruit fly to human. Neither variant was observed in databases of single-nucleotide variants or in 634 chromosomes from ethnically matched control subjects. TBC1D24 in the mouse inner ear was immunolocalized predominantly to spiral ganglion neurons, indicating that DFNB86 deafness might be an auditory neuropathy spectrum disorder. Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death. Two of our four families in which deafness segregates with mutant alleles of TBC1D24 were available for neurological examination. Cosegregation of epilepsy and deafness was not observed in these two families. Although the causal relationship between genotype and phenotype is not presently understood, our findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness.

  1. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

    PubMed

    Tarpey, Patrick; Thomas, Shery; Sarvananthan, Nagini; Mallya, Uma; Lisgo, Steven; Talbot, Chris J; Roberts, Eryl O; Awan, Musarat; Surendran, Mylvaganam; McLean, Rebecca J; Reinecke, Robert D; Langmann, Andrea; Lindner, Susanne; Koch, Martina; Jain, Sunila; Woodruff, Geoffrey; Gale, Richard P; Bastawrous, Andrew; Degg, Chris; Droutsas, Konstantinos; Asproudis, Ioannis; Zubcov, Alina A; Pieh, Christina; Veal, Colin D; Machado, Rajiv D; Backhouse, Oliver C; Baumber, Laura; Constantinescu, Cris S; Brodsky, Michael C; Hunter, David G; Hertle, Richard W; Read, Randy J; Edkins, Sarah; O'Meara, Sarah; Parker, Adrian; Stevens, Claire; Teague, Jon; Wooster, Richard; Futreal, P Andrew; Trembath, Richard C; Stratton, Michael R; Raymond, F Lucy; Gottlob, Irene

    2006-11-01

    Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

  2. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

    PubMed

    Filosto, Massimiliano; Aureli, Massimo; Castellotti, Barbara; Rinaldi, Fabrizio; Schiumarini, Domitilla; Valsecchi, Manuela; Lualdi, Susanna; Mazzotti, Raffaella; Pensato, Viviana; Rota, Silvia; Gellera, Cinzia; Filocamo, Mirella; Padovani, Alessandro

    2016-11-01

    ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor neuron degeneration followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years. We studied two subjects, a 30-year-old pregnant woman and her 17-year-old sister, affected with a very slowly progressive non-5q SMA since childhood. No history of seizures or myoclonus has been reported and EEG was unremarkable. The molecular study of ASAH1 gene showed the presence of the homozygote nucleotide variation c.124A>G (r.124a>g) that causes the amino acid substitution p.Thr42Ala. Biochemical evaluation of cultured fibroblasts showed both reduction in ceramidase activity and accumulation of ceramide compared with the normal control. This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA. ASAH1 molecular analysis should be considered in the diagnostic testing of non-5q adult SMA patients.

  3. Epilepsy - resources

    MedlinePlus

    Resources - epilepsy ... The following organizations are good resources for information on epilepsy : Epilepsy Foundation -- www.epilepsy.com National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/disorders/ ...

  4. Genetics of pediatric epilepsy.

    PubMed

    Hani, Abeer J; Mikati, Husam M; Mikati, Mohamad A

    2015-06-01

    As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification of the specific mutation increasingly more important for prognostication and often more directed treatment. Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.

  5. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

    PubMed Central

    Escayg, A; De Waard, M; Lee, D D; Bichet, D; Wolf, P; Mayer, T; Johnston, J; Baloh, R; Sander, T; Meisler, M H

    2000-01-01

    Inactivation of the beta4 subunit of the calcium channel in the mouse neurological mutant lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. The premature-termination mutation R482X was identified in a patient with juvenile myoclonic epilepsy. The R482X protein lacks the 38 C-terminal amino acids containing part of an interaction domain for the alpha1 subunit. The missense mutation C104F was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia. These coding mutations were not detected in 255 unaffected control individuals (510 chromosomes), and they may be considered candidate disease mutations. The results of functional tests of the truncated protein R482X in Xenopus laevis oocytes demonstrated a small decrease in the fast time constant for inactivation of the cotransfected alpha1 subunit. Further studies will be required to evaluate the in vivo consequences of these mutations. We also describe eight noncoding single-nucleotide substitutions, two of which are present at polymorphic frequency, and a previously unrecognized first intron of CACNB4 that interrupts exon 1 at codon 21. PMID:10762541

  6. Functional Loss of Bmsei Causes Thermosensitive Epilepsy in Contractile Mutant Silkworm, Bombyx mori

    PubMed Central

    Nie, Hongyi; Cheng, Tingcai; Huang, Xiaofeng; Zhou, Mengting; Zhang, Yinxia; Dai, Fangyin; Mita, Kazuei; Xia, Qingyou; Liu, Chun

    2015-01-01

    The thermoprotective mechanisms of insects remain largely unknown. We reported the Bombyx mori contractile (cot) behavioral mutant with thermo-sensitive seizures phenotype. At elevated temperatures, the cot mutant exhibit seizures associated with strong contractions, rolling, vomiting, and a temporary lack of movement. We narrowed a region containing cot to ~268 kb by positional cloning and identified the mutant gene as Bmsei which encoded a potassium channel protein. Bmsei was present in both the cell membrane and cytoplasm in wild-type ganglia but faint in cot. Furthermore, Bmsei was markedly decreased upon high temperature treatment in cot mutant. With the RNAi method and injecting potassium channel blockers, the wild type silkworm was induced the cot phenotype. These results demonstrated that Bmsei was responsible for the cot mutant phenotype and played an important role in thermoprotection in silkworm. Meanwhile, comparative proteomic approach was used to investigate the proteomic differences. The results showed that the protein of Hsp-1 and Tn1 were significantly decreased and increased on protein level in cot mutant after thermo-stimulus, respectively. Our data provide insights into the mechanism of thermoprotection in insect. As cot phenotype closely resembles human epilepsy, cot might be a potential model for the mechanism of epilepsy in future. PMID:26198671

  7. Functional Loss of Bmsei Causes Thermosensitive Epilepsy in Contractile Mutant Silkworm, Bombyx mori

    NASA Astrophysics Data System (ADS)

    Nie, Hongyi; Cheng, Tingcai; Huang, Xiaofeng; Zhou, Mengting; Zhang, Yinxia; Dai, Fangyin; Mita, Kazuei; Xia, Qingyou; Liu, Chun

    2015-07-01

    The thermoprotective mechanisms of insects remain largely unknown. We reported the Bombyx mori contractile (cot) behavioral mutant with thermo-sensitive seizures phenotype. At elevated temperatures, the cot mutant exhibit seizures associated with strong contractions, rolling, vomiting, and a temporary lack of movement. We narrowed a region containing cot to ~268 kb by positional cloning and identified the mutant gene as Bmsei which encoded a potassium channel protein. Bmsei was present in both the cell membrane and cytoplasm in wild-type ganglia but faint in cot. Furthermore, Bmsei was markedly decreased upon high temperature treatment in cot mutant. With the RNAi method and injecting potassium channel blockers, the wild type silkworm was induced the cot phenotype. These results demonstrated that Bmsei was responsible for the cot mutant phenotype and played an important role in thermoprotection in silkworm. Meanwhile, comparative proteomic approach was used to investigate the proteomic differences. The results showed that the protein of Hsp-1 and Tn1 were significantly decreased and increased on protein level in cot mutant after thermo-stimulus, respectively. Our data provide insights into the mechanism of thermoprotection in insect. As cot phenotype closely resembles human epilepsy, cot might be a potential model for the mechanism of epilepsy in future.

  8. Long-term ascorbic acid administration causes anticonvulsant activity during moderate and long-duration swimming exercise in experimental epilepsy.

    PubMed

    Tutkun, Erkut; Arslan, Gokhan; Soslu, Recep; Ayyildiz, Mustafa; Agar, Erdal

    2015-01-01

    The benefits of regular exercise on brain health are undeniable. Long-term exercise increases the production of reactive oxygen species in brain. Therefore, athletes often consume antioxidant supplements to remedy exercise-related damage and fatigue during exercise. The aim of this study is to evaluate the role of ascorbic acid in the effects of different intensities of swimming exercise on the brain susceptibility to experimental epilepsy in rats. Ascorbic acid was administered intraperitoneally (ip) during three different swimming exercise programme for 90 days (15 min, 30 min, 90 min/day). The anticonvulsant activity regarding the frequency of epileptiform activity appeared in the 80 min after 500 units intracortical penicillin injection in 30 min and 90 min/day exercise groups. The administration of ascorbic acid (100 mg/kg, ip) did not alter the anticonvulsant properties seen in the in short-duration (15 min/day) swimming exercise group. The amplitude of epileptiform activity also became significant in the 110 and 120 min after penicillin injection in the moderate (30 min/day) and long duration (60 min/day) groups, respectively. The results of the present study provide electrophysiologic evidence that long-term administration of ascorbic acid causes anticonvulsant activities in the moderate and long-duration swimming exercise. Antioxidant supplementation such as ascorbic acid might be suggested for moderate and long-duration swimming exercise in epilepsy.

  9. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

    PubMed

    Nascimento, Fábio A; Andrade, Danielle M

    2016-09-01

    Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage-gated potassium channels). Loss of Kv3 function disrupts the firing properties of fast-spiking neurons, affects neurotransmitter release and induces cell death. Specifically regarding Kv3.1 malfunctioning, the most affected neurons include inhibitory GABAergic interneurons and cerebellar neurons. Impairment of the former cells is believed to contribute to myoclonus and seizures, whereas dysfunction of the latter to ataxia and tremor. Phenotypically, MEAK patients generally have a normal early development. At the age of 6 to 14 years, they present with myoclonus, which tends to progressively worsen with time. Tonic-clonic seizures may or may not be present, and some patients develop mild cognitive impairment following seizure onset. Typical electroencephalographic features comprise generalized epileptiform discharges and, in some cases, photosensitivity. Brain imaging is either normal or shows cerebellar atrophy. The identification of MEAK has both expanded the phenotypic and genotypic spectra of PME and established an emerging role for de novo mutations in PME.

  10. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

    PubMed

    Carvill, Gemma L; McMahon, Jacinta M; Schneider, Amy; Zemel, Matthew; Myers, Candace T; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L; Leventer, Richard J; Møller, Rikke S; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F; Scheffer, Ingrid E; Mefford, Heather C

    2015-05-07

    GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ~4% of unsolved MAE cases.

  11. Dysplastic changes in idiopathic thrombocytopenic purpura and the effect of corticosteroids to increase dysplasia and cause hyperdiploid macropolycytes.

    PubMed

    Olcay, L; Yetgin, S; Okur, H; Erekul, S; Tuncer, M

    2000-10-01

    This study evaluates the dysplastic hematological changes in nine patients with idiopathic thrombocytopenic purpura (ITP) in 11 attacks, before and after corticosteroid treatment. The pretreatment blood smears of patients with ITP, displayed more neutrophils with bizarre nuclei (P < 0.001), Döhle or Döhle-like inclusions (P < 0. 01), irregular distribution of granules (P < 0.05), hypo-agranulation (P < 0.05), pseudo-Pelger-Huet-like cells (P < 0. 01), and nuclei with chromatine clumping (P < 0.01) than the normal children. The eosinophils of ITP patients were also dysplastic, before treatment. The pretreatment diameter of the neutrophils and the percentage of macropolycytes were greater than those of the patients with viral infections and normal group (P < 0.05 for all). The percentage of neutrophils with bizarre nuclei and nuclei with chromatine clumping and the diameter of neutrophils and macropolycyte percentage increased with corticosteroid therapy (P < 0.01, < 0.01, < 0.01, and < 0.05, respectively). The neutrophil diameter, percentage of macropolycytes, and number of neutrophils with bizarre nuclei decreased within 1-4 weeks after the therapy was stopped. In the neutrophils of two patients, diploidy and hyperdiploidy were established before and on the last day of therapy, respectively, and diploidy reversed after therapy was stopped. In conclusion, ITP patients display dysplastic findings in both neutrophils and eosinophils before treatment and corticosteroids cause transient significant increase in some of the dysplastic changes in neutrophils.

  12. Juvenile Idiopathic Arthritis

    MedlinePlus

    ... rule out other conditions or infections, such as Lyme disease , that may cause similar symptoms or occur along ... ESR) Bones, Muscles, and Joints Evaluate Your Child's Lyme Disease Risk Word! Arthritis Arthritis Lupus Juvenile Idiopathic Arthritis ( ...

  13. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?

    PubMed

    Pizzanelli, C; Mancuso, M; Galli, R; Choub, A; Fanin, M; Nascimbeni, A C; Siciliano, G; Murri, L

    2006-06-01

    Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene. Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl.

  14. Bilateral idiopathic calf muscle hypertrophy: an exceptional cause of unsightly leg curvature.

    PubMed

    Herlin, C; Chaput, B; Rivier, F; Doucet, J C; Bigorre, M; Captier, G

    2015-04-01

    The authors present the management of a young female patient who presented with longstanding bilateral calf muscle hypertrophy, with no known cause. Taking into account the patient's wishes and the fact that the hypertrophy was mainly located in the posteromedial compartment, we chose to carry out a subtotal bilateral resection of medial gastrocnemius muscles. This procedure was performed with an harmonic scalpel, permitting a excellent cosmetic result while avoiding complications or functional impairment. After a reviewing of the commonly used techniques, the authors discuss the chosen surgical approach taking into account its clinical particularity.

  15. Review of idiopathic pancreatitis

    PubMed Central

    Lee, Jason Kihyuk; Enns, Robert

    2007-01-01

    Recent advances in understanding of pancreatitis and advances in technology have uncovered the veils of idiopathic pancreatitis to a point where a thorough history and judicious use of diagnostic techniques elucidate the cause in over 80% of cases. This review examines the multitude of etiologies of what were once labeled idiopathic pancreatitis and provides the current evidence on each. This review begins with a background review of the current epidemiology of idiopathic pancreatitis prior to discussion of various etiologies. Etiologies of medications, infections, toxins, autoimmune disorders, vascular causes, and anatomic and functional causes are explored in detail. We conclude with management of true idiopathic pancreatitis and a summary of the various etiologic agents. Throughout this review, areas of controversies are highlighted. PMID:18081217

  16. [Myoclonus and myoclonic epilepsies in childhood].

    PubMed

    Nieto-Barrera, M

    Myoclonic jerks occur in a number of different syndromes. There is many classifications of myoclonus. It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies. The epileptic syndromes of the last group are described. Despite this classification, apparently clear, there is still a great deal of confusion and in clinical practice, many cases are difficult to classify.

  17. A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle

    PubMed Central

    Pausch, Hubert; Kölle, Sabine; Wurmser, Christine; Schwarzenbacher, Hermann; Emmerling, Reiner; Jansen, Sandra; Trottmann, Matthias; Fuerst, Christian; Götz, Kay-Uwe; Fries, Ruedi

    2014-01-01

    Genetic variants underlying reduced male reproductive performance have been identified in humans and model organisms, most of them compromising semen quality. Occasionally, male fertility is severely compromised although semen analysis remains without any apparent pathological findings (i.e., idiopathic subfertility). Artificial insemination (AI) in most cattle populations requires close examination of all ejaculates before insemination. Although anomalous ejaculates are rejected, insemination success varies considerably among AI bulls. In an attempt to identify genetic causes of such variation, we undertook a genome-wide association study (GWAS). Imputed genotypes of 652,856 SNPs were available for 7962 AI bulls of the Fleckvieh (FV) population. Male reproductive ability (MRA) was assessed based on 15.3 million artificial inseminations. The GWAS uncovered a strong association signal on bovine chromosome 19 (P = 4.08×10−59). Subsequent autozygosity mapping revealed a common 1386 kb segment of extended homozygosity in 40 bulls with exceptionally poor reproductive performance. Only 1.7% of 35,671 inseminations with semen samples of those bulls were successful. None of the bulls with normal reproductive performance was homozygous, indicating recessive inheritance. Exploiting whole-genome re-sequencing data of 43 animals revealed a candidate causal nonsense mutation (rs378652941, c.483C>A, p.Cys161X) in the transmembrane protein 95 encoding gene TMEM95 which was subsequently validated in 1990 AI bulls. Immunohistochemical investigations evidenced that TMEM95 is located at the surface of spermatozoa of fertile animals whereas it is absent in spermatozoa of subfertile animals. These findings imply that integrity of TMEM95 is required for an undisturbed fertilisation. Our results demonstrate that deficiency of TMEM95 severely compromises male reproductive performance in cattle and reveal for the first time a phenotypic effect associated with genomic variation in

  18. The social causes of inequality in epilepsy and developing a rehabilitation strategy: a U.K.-based analysis.

    PubMed

    Ridsdale, Leone

    2009-10-01

    A rehabilitation approach has been adopted for many long-term neurologic conditions, but not for epilepsy. The disabilities associated with epilepsy are cognitive, psychological, and social, which are not as readily identified by medical doctors as are physical disabilities. A rehabilitation approach moves the emphasis from a medically driven process to a focus on the personal, social, and physical context of long-term illness. It is suggested that a missed opportunity for education and support for self-management occurs after diagnosis. This results in disadvantage to those whose educational level and knowledge of epilepsy are low. People who do not achieve epilepsy control may then experience higher levels of psychological distress, and a negative cycle of loss of self-efficacy, poor epilepsy control, social disadvantage, and disability. Rehabilitation services have benefited communities surrounding centers of excellence. Not so in epilepsy. Despite centers of excellence, areas with deprivation have higher than national average levels of patients reporting a seizure in the prior year, and higher emergency hospital admissions. Specialists working in partnership with general practitioners (GPs) and practice nurses can do more to increase participation and reduce distress for people with epilepsy. When available, GPs and nurses with special interest in epilepsy promote integrated services. Primary-secondary networks are likely to be more effective in preventing downward drift. This requires evaluation.

  19. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

    PubMed

    Hallmann, Kerstin; Kudin, Alexei P; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S

    2016-02-01

    Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. The mutation, affecting the last nucleotide of intron 1, leads to aberrant splicing, a frame-shift in the highly conserved exon 2, and decreased amount of the COX8A transcript. The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. Stability and activity of complex IV could be rescued in the patient's fibroblasts by lentiviral expression of wild-type COX8A. Our findings demonstrate that COX8A is indispensable for function of human complex IV and its mutation causes human disease.

  20. Epilepsy and the Sensory Systems

    PubMed Central

    2016-01-01

    The relations of epilepsy and the sensory systems are bidirectional. Epilepsy may act on sensory systems by producing sensory seizure symptoms, by altering sensory performance, and by epilepsy treatment causing sensory side effects. Sensory system activity may have an important role in both generation and inhibition of seizures. PMID:27857611

  1. Epilepsy: Indian perspective

    PubMed Central

    Santhosh, Nandanavana Subbareddy; Sinha, Sanjib; Satishchandra, Parthasarathy

    2014-01-01

    There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India. PMID:24791085

  2. Epilepsy: Indian perspective.

    PubMed

    Santhosh, Nandanavana Subbareddy; Sinha, Sanjib; Satishchandra, Parthasarathy

    2014-03-01

    There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.

  3. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

    PubMed

    Schwarz, N; Hahn, A; Bast, T; Müller, S; Löffler, H; Maljevic, S; Gaily, E; Prehl, I; Biskup, S; Joensuu, T; Lehesjoki, A-E; Neubauer, B A; Lerche, H; Hedrich, U B S

    2016-02-01

    Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the causative SCN2A mutations and determine their functional consequences using whole-cell patch-clamping in mammalian cells. In total, four probands presented with neonatal-onset seizures remitting after five to 13 months. In early childhood, they started to experience repeated episodes of ataxia, accompanied in part by headache or back pain lasting minutes to several hours. In two of the new cases, we detected the novel mutation p.Arg1882Gly. While this mutation occurred de novo in both patients, one of them carries an additional known variant on the same SCN2A allele, inherited from the unaffected father (p.Gly1522Ala). Whereas p.Arg1882Gly alone shifted the activation curve by -4 mV, the combination of both variants did not affect activation, but caused a depolarizing shift of voltage-dependent inactivation, and a significant increase in Na(+) current density and protein production. p.Gly1522Ala alone did not change channel gating. The third new proband carries the same de novo SCN2A gain-of-function mutation as our first published case (p.Ala263Val). Our findings broaden the clinical spectrum observed with SCN2A gain-of-function mutations, showing that fairly different biophysical mechanisms can cause a convergent clinical phenotype of neonatal seizures and later onset episodic ataxia.

  4. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

    PubMed Central

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K.; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R.; Merkenschlager, Andreas; Syrbe, Steffen

    2016-01-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy. PMID:27781029

  5. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

    PubMed

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R; Merkenschlager, Andreas; Syrbe, Steffen

    2016-09-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

  6. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

    PubMed

    Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

    2016-12-15

    PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state.

  7. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

    PubMed

    Almalki, Abdulraheem; Alston, Charlotte L; Parker, Alasdair; Simonic, Ingrid; Mehta, Sarju G; He, Langping; Reza, Mojgan; Oliveira, Jorge M A; Lightowlers, Robert N; McFarland, Robert; Taylor, Robert W; Chrzanowska-Lightowlers, Zofia M A

    2014-01-01

    Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations in the genes encoding mitochondrial aaRSs have been associated with a wide spectrum of human mitochondrial diseases. Here we report the identification of pathogenic mutations (a partial genomic deletion and a highly conserved p. Asp325Tyr missense variant) in FARS2, the gene encoding mitochondrial phenylalanyl-tRNA synthetase, in a patient with early-onset epilepsy and isolated complex IV deficiency in muscle. The biochemical defect was expressed in myoblasts but not in fibroblasts and associated with decreased steady state levels of COXI and COXII protein and reduced steady state levels of the mt-tRNA(Phe) transcript. Functional analysis of the recombinant mutant p. Asp325Tyr FARS2 protein showed an inability to bind ATP and consequently undetectable aminoacylation activity using either bacterial tRNA or human mt-tRNA(Phe) as substrates. Lentiviral transduction of cells with wildtype FARS2 restored complex IV protein levels, confirming that the p.Asp325Tyr mutation is pathogenic, causing respiratory chain deficiency and neurological deficits on account of defective aminoacylation of mt-tRNA(Phe).

  8. Venlafaxine-associated serotonin syndrome causing severe rhabdomyolysis and acute renal failure in a patient with idiopathic Parkinson disease.

    PubMed

    Rajapakse, Senaka; Abeynaike, Lakshan; Wickramarathne, Thanushi

    2010-10-01

    A 43-year-old male patient with idiopathic Parkinson disease, on dopaminergic therapy, was admitted with confusion and agitation, diaphoresis, and hyperkinesia after the commencement of the serotonin-noradrenaline reuptake inhibitor venlafaxine 2 weeks prior for depression. He was found to have severe rhabdomyolysis and developed acute renal failure. The most likely diagnosis was serotonin syndrome induced by venlafaxine, although neuroleptic malignant syndrome was also considered. The differential diagnosis, atypical features in this presentation, and possible mechanisms are discussed.

  9. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

    PubMed

    Berryer, Martin H; Hamdan, Fadi F; Klitten, Laura L; Møller, Rikke S; Carmant, Lionel; Schwartzentruber, Jeremy; Patry, Lysanne; Dobrzeniecka, Sylvia; Rochefort, Daniel; Neugnot-Cerioli, Mathilde; Lacaille, Jean-Claude; Niu, Zhiyv; Eng, Christine M; Yang, Yaping; Palardy, Sylvain; Belhumeur, Céline; Rouleau, Guy A; Tommerup, Niels; Immken, Ladonna; Beauchamp, Miriam H; Patel, Gayle Simpson; Majewski, Jacek; Tarnopolsky, Mark A; Scheffzek, Klaus; Hjalgrim, Helle; Michaud, Jacques L; Di Cristo, Graziella

    2013-02-01

    De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity-dependent phosphorylated extracellular signal-regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption.

  10. International Veterinary Epilepsy Task Force consensus proposal: medical treatment of canine epilepsy in Europe.

    PubMed

    Bhatti, Sofie F M; De Risio, Luisa; Muñana, Karen; Penderis, Jacques; Stein, Veronika M; Tipold, Andrea; Berendt, Mette; Farquhar, Robyn G; Fischer, Andrea; Long, Sam; Löscher, Wolfgang; Mandigers, Paul J J; Matiasek, Kaspar; Pakozdy, Akos; Patterson, Edward E; Platt, Simon; Podell, Michael; Potschka, Heidrun; Rusbridge, Clare; Volk, Holger A

    2015-08-28

    In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which adjunctive AED can be advised if treatment with the initial drug is unsatisfactory, and 4) when treatment changes should be considered. In this consensus proposal, an overview is given on the aim of AED treatment, when to start long-term treatment in canine epilepsy and which veterinary AEDs are currently in use for dogs. The consensus proposal for drug treatment protocols, 1) is based on current published evidence-based literature, 2) considers the current legal framework of the cascade regulation for the prescription of veterinary drugs in Europe, and 3) reflects the authors' experience. With this paper it is aimed to provide a consensus for the management of canine idiopathic epilepsy. Furthermore, for the management of structural epilepsy AEDs are inevitable in addition to treating the underlying cause, if possible.

  11. GEM THERAPY AND EPILEPSY

    PubMed Central

    Murthy, S.R.N.; Shenoy, Raghuram

    1990-01-01

    The authors present in this paper the status of treatment and cause of epilepsy. They propose further research to be undertaken to document the data and a study of human magnetic aura followed by blood spectral studies. They have suggested that based upon these studies it should be possible to determine the cause of epilepsy and its treatment by the physical application of suitable precious and semi-previous stones followed by administration of Ayurvedic formulation. PMID:22557696

  12. A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    PubMed Central

    Bassuk, Alexander G.; Wallace, Robyn H.; Buhr, Aimee; Buller, Andrew R.; Afawi, Zaid; Shimojo, Masahito; Miyata, Shingo; Chen, Shan; Gonzalez-Alegre, Pedro; Griesbach, Hilary L.; Wu, Shu; Nashelsky, Marcus; Vladar, Eszter K.; Antic, Dragana; Ferguson, Polly J.; Cirak, Sebahattin; Voit, Thomas; Scott, Matthew P.; Axelrod, Jeffrey D.; Gurnett, Christina; Daoud, Azhar S.; Kivity, Sara; Neufeld, Miriam Y.; Mazarib, Aziz; Straussberg, Rachel; Walid, Simri; Korczyn, Amos D.; Slusarski, Diane C.; Berkovic, Samuel F.; El-Shanti, Hatem I.

    2008-01-01

    Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in PRICKLE1 (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees. The identified PRICKLE1 mutation blocks the PRICKLE1 and REST interaction in vitro and disrupts the normal function of PRICKLE1 in an in vivo zebrafish overexpression system. PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy. PMID:18976727

  13. Psychiatric Comorbidity in Children with New Onset Epilepsy

    ERIC Educational Resources Information Center

    Jones, Jana E.; Watson, Ryann; Sheth, Raj; Caplan, Rochelle; Koehn, Monica; Seidenberg, Michael; Hermann, Bruce

    2007-01-01

    The aim of this study was to characterize the distribution, timing, and risk factors for psychiatric comorbidity in children with recent onset epilepsy. Children aged 8 to 18 years with recent onset epilepsy (less than 1 year in duration) of idiopathic etiology (n=53) and a healthy comparison group (n=50) underwent a structured psychiatric…

  14. Infections, inflammation and epilepsy

    PubMed Central

    Vezzani, Annamaria; Fujinami, Robert S.; White, H. Steve; Preux, Pierre-Marie; Blümcke, Ingmar; Sander, Josemir W.; Löscher, Wolfgang

    2016-01-01

    Epilepsy is the tendency to have unprovoked epileptic seizures. Anything causing structural or functional derangement of brain physiology may lead to seizures, and different conditions may express themselves solely by recurrent seizures and thus be labelled “epilepsy.” Worldwide, epilepsy is the most common serious neurological condition. The range of risk factors for the development of epilepsy varies with age and geographic location. Congenital, developmental and genetic conditions are mostly associated with the development of epilepsy in childhood, adolescence and early adulthood. Head trauma, infections of the central nervous system (CNS) and tumours may occur at any age and may lead to the development of epilepsy. Infections of the CNS are a major risk factor for epilepsy. The reported risk of unprovoked seizures in population-based cohorts of survivors of CNS infections from developed countries is between 6.8 and 8.3 %, and is much higher in resource-poor countries. In this review, the various viral, bacterial, fungal and parasitic infectious diseases of the CNS which result in seizures and epilepsy are discussed. The pathogenesis of epilepsy due to brain infections, as well as the role of experimental models to study mechanisms of epileptogenesis induced by infectious agents, is reviewed. The sterile (non-infectious) inflammatory response that occurs following brain insults is also discussed, as well as its overlap with inflammation due to infections, and the potential role in epileptogenesis. Furthermore, autoimmune encephalitis as a cause of seizures is reviewed. Potential strategies to prevent epilepsy resulting from brain infections and non-infectious inflammation are also considered. PMID:26423537

  15. Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.

    PubMed

    Lachance-Touchette, Pamela; Choudhury, Mayukh; Stoica, Ana; Di Cristo, Graziella; Cossette, Patrick

    2014-01-01

    Mutations in genes encoding for GABAA receptor subunits is a well-established cause of genetic generalized epilepsy. GABA neurotransmission is implicated in several developmental processes including neurite outgrowth and synapse formation. Alteration in excitatory/inhibitory synaptic activities plays a critical role in epilepsy, thus here we investigated whether mutations in α1 subunit of GABAA receptor may affect dendritic spine and GABAergic bouton formation. In particular, we examined the effects of three mutations of the GABRA1 gene (D219N, A322D and K353delins18X) that were found in a cohort of French Canadian families with genetic generalized epilepsy. We used a novel single-cell genetic approach, by preparing cortical organotypic cultures from GABRA1 (flox/flox) mice and simultaneously inactivating endogenous GABRA1 and transfecting mutant α1 subunits in single glutamatergic pyramidal cells and basket GABAergic interneurons by biolistic transfection. We found that GABRA1 (-/-) GABAergic cells showed reduced innervation field, which was rescued by co-expressing α1-A322D and α1-WT but not α1-D219N. We further found that the expression of the most severe GABRA1 missense mutation (α1-A322D) induced a striking increase of spine density in pyramidal cells along with an increase in the number of mushroom-like spines. In addition, α1-A322D expression in GABAergic cells slightly increased perisomatic bouton density, whereas other mutations did not alter bouton formation. All together, these results suggest that the effects of different GABAAR mutations on GABAergic bouton and dendritic spine formation are specific to the mutation and cannot be always explained by a simple loss-of-function gene model. The use of single cell genetic manipulation in organotypic cultures may provide a better understanding of the specific and distinct neural circuit alterations caused by different GABAA receptor subunit mutations and will help define the pathophysiology of genetic

  16. Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

    PubMed Central

    Lachance-Touchette, Pamela; Choudhury, Mayukh; Stoica, Ana; Di Cristo, Graziella; Cossette, Patrick

    2014-01-01

    Mutations in genes encoding for GABAA receptor subunits is a well-established cause of genetic generalized epilepsy. GABA neurotransmission is implicated in several developmental processes including neurite outgrowth and synapse formation. Alteration in excitatory/inhibitory synaptic activities plays a critical role in epilepsy, thus here we investigated whether mutations in α1 subunit of GABAA receptor may affect dendritic spine and GABAergic bouton formation. In particular, we examined the effects of three mutations of the GABRA1 gene (D219N, A322D and K353delins18X) that were found in a cohort of French Canadian families with genetic generalized epilepsy. We used a novel single-cell genetic approach, by preparing cortical organotypic cultures from GABRA1flox/flox mice and simultaneously inactivating endogenous GABRA1 and transfecting mutant α1 subunits in single glutamatergic pyramidal cells and basket GABAergic interneurons by biolistic transfection. We found that GABRA1−/− GABAergic cells showed reduced innervation field, which was rescued by co-expressing α1-A322D and α1-WT but not α1-D219N. We further found that the expression of the most severe GABRA1 missense mutation (α1-A322D) induced a striking increase of spine density in pyramidal cells along with an increase in the number of mushroom-like spines. In addition, α1-A322D expression in GABAergic cells slightly increased perisomatic bouton density, whereas other mutations did not alter bouton formation. All together, these results suggest that the effects of different GABAAR mutations on GABAergic bouton and dendritic spine formation are specific to the mutation and cannot be always explained by a simple loss-of-function gene model. The use of single cell genetic manipulation in organotypic cultures may provide a better understanding of the specific and distinct neural circuit alterations caused by different GABAA receptor subunit mutations and will help define the pathophysiology of genetic

  17. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

    PubMed

    Heron, Sarah E; Smith, Katherine R; Bahlo, Melanie; Nobili, Lino; Kahana, Esther; Licchetta, Laura; Oliver, Karen L; Mazarib, Aziz; Afawi, Zaid; Korczyn, Amos; Plazzi, Giuseppe; Petrou, Steven; Berkovic, Samuel F; Scheffer, Ingrid E; Dibbens, Leanne M

    2012-11-01

    We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in KCNT1, encoding a sodium-gated potassium channel subunit. KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. These findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.

  18. Idiopathic hypersomnia.

    PubMed

    Billiard, M; Merle, C; Carlander, B; Ondze, B; Alvarez, D; Besset, A

    1998-04-01

    Identification of idiopathic hypersomnia dates back 20 years only. It typically consists of prolonged nocturnal sleep, great difficulty waking up in the morning or at the end of a nap, and constant or recurrent excessive daytime sleepiness. Complete and incomplete forms are encountered. Twenty-three subjects fulfilling ICSD criteria are reported with clinical, polysomnographic and immunogenetic data. Considering differential diagnosis is an important step in the diagnosis of idiopathic hypersomnia. Idiopathic hypersomnia is much less frequent than narcolepsy. A strong genetic component is suggested by the high proportion of familial cases. No association with HLA has been evidenced to date.

  19. Recognizing and preventing epilepsy-related mortality

    PubMed Central

    Spruill, Tanya; Thurman, David; Friedman, Daniel

    2016-01-01

    Epilepsy is associated with a high rate of premature mortality from direct and indirect effects of seizures, epilepsy, and antiseizure therapies. Sudden unexpected death in epilepsy (SUDEP) is the second leading neurologic cause of total lost potential life-years after stroke, yet SUDEP may account for less than half of all epilepsy-related deaths. Some epilepsy groups are especially vulnerable: individuals from low socioeconomic status groups and those with comorbid psychiatric illness die more often than controls. Despite clear evidence of an important public health problem, efforts to assess and prevent epilepsy-related deaths remain inadequate. We discuss factors contributing to the underestimation of SUDEP and other epilepsy-related causes of death. We suggest the need for a systematic classification of deaths directly due to epilepsy (e.g., SUDEP, drowning), due to acute symptomatic seizures, and indirectly due to epilepsy (e.g., suicide, chronic effects of antiseizure medications). Accurately estimating the frequency of epilepsy-related mortality is essential to support the development and assessment of preventive interventions. We propose that educational interventions and public health campaigns targeting medication adherence, psychiatric comorbidity, and other modifiable risk factors may reduce epilepsy-related mortality. Educational campaigns regarding sudden infant death syndrome and fires, which kill far fewer Americans than epilepsy, have been widely implemented. We have done too little to prevent epilepsy-related deaths. Everyone with epilepsy and everyone who treats people with epilepsy need to know that controlling seizures will save lives. PMID:26674330

  20. Epilepsy Foundation

    MedlinePlus

    ... the Facts Take Charge of the Storm Rick Harrison of 'Pawn Stars' Partners with Epilepsy Foundation to ... the Facts Take Charge of the Storm Rick Harrison of 'Pawn Stars' Partners with Epilepsy Foundation to ...

  1. No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.

    PubMed

    Mumoli, Laura; Tarantino, Patrizia; Michelucci, Roberto; Bianchi, Amedeo; Labate, Angelo; Franceschetti, Silvana; Marini, Carla; Striano, Pasquale; Gagliardi, Monica; Ferlazzo, Edoardo; Sofia, Vito; Pennese, Loredana; Annesi, Grazia; Aguglia, Umberto; Guerrini, Renzo; Zara, Federico; Gambardella, Antonio

    2015-04-01

    Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. EPM1 is caused by mutations in the gene that codes for cystatin B (CSTB), an inhibitor of cysteine protease. In the present study, we wished to investigate the role of the CSTB gene in patients with JME. Fifty-seven unrelated patients (35 women; mean age ± standard deviation [SD], 24.1 ± 7.7; mean age ± SD at onset, 15.3 ± 2.4) with JME were enrolled. Twenty-three of 57 patients were the probands of families with JME. The molecular diagnosis was carried out to identify the common dodecamer repeat expansion mutation or other disease-causing mutations in the CSTB gene. The molecular analysis did not depict mutations in any of the 57 patients with JME. Our study did not support a role for the CSTB gene in patients with familial or sporadic JME.

  2. [Unusual cause of right heart failure decompensation in 21-years old patient with idiopathic pulmonary arterial hypertension -- a case report].

    PubMed

    Florczyk, Michał; Stawecka-Pawełczyk, Anna; Kurzyna, Marcin; Fijałkowska, Anna; Burakowska, Janusz; Zyłkowska, Joanna; Szturmowicz, Monika; Wawrzyńska, Liliana; Tomkowski, Witold; Torbicki, Adam

    2007-01-01

    The authors describe a case of 21-years old woman with idiopathic pulmonary arterial hypertension with atypical clinical consequences of massive internal bleeding. Despite significant hypovolemia clinical and laboratory presentation was one of RV failure with dilatation of right heart ventricle and increased plasma level of markers of myocardial stretch and injury (NT-proBNP and troponin, respectively). This is attributed to impaired right ventricular coronary perfusion and hypoxia. Intensive treatment restored baseline RV conditions and at 15 months follow-up no persistent right heart impairment was observed. This case demonstrates that bleeding should be also considered in differential diagnosis of exacerbation of right ventricular failure in patients with pulmonary arterial hypertension.

  3. Idiopathic Neonatal Colonic Perforation

    PubMed Central

    Tuncer, Oğuz; Melek, Mehmet; Kaba, Sultan; Bulan, Keziban; Peker, Erdal

    2014-01-01

    Though the perforation of the colon in neonates is rare, it is associated with more than 50% mortality in high-risk patients. We report a case of idiopathic neonatal perforation of the sigmoid colon in an 8-day-old, healthy, male neonate without any demonstrable cause. PMID:26023477

  4. Idiopathic scrotal elephantiasis.

    PubMed

    Hornberger, Brad J; Elmore, James M; Roehrborn, Claus G

    2005-02-01

    Scrotal lymphedema (scrotal elephantiasis) is a condition that has historically been described in areas endemic to filariasis. We present a unique case of a 22-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and scrotal reconstruction.

  5. Idiopathic pigmentosis tubae.

    PubMed

    Bolaji, I I; Meehan, F P

    1994-01-01

    Case Report--A 33-year-old woman was examined because of primary infertility. Hysterosalpingography plus laparoscopy led to a diagnosis of the extremely rare condition of pigmentosis of the fallopian tube, with complete tubal occlusion as the cause of the infertility. The condition appeared to be idiopathic.

  6. Idiopathic central diabetes Insipidus.

    PubMed

    Grace, Mary; Balachandran, Venu; Menon, Sooraj

    2011-10-01

    Idiopathic central diabetes insipidus (CDI) is a rare disorder characterized clinically by polyuria and polydipsia, and an abnormal urinary concentration without any identified etiology. We report a case of central diabetes insipidus in a 60-year-old lady in the absence of secondary causes like trauma, infection, and infiltrative disorders of brain.

  7. Psychosocial aspects of epilepsy.

    PubMed

    Shah, Pravina

    2002-05-01

    Social attitudes towards epilepsy cause more distress to the patient and his/her near and dear ones, than the disease itself. The major psychosocial issues related to epilepsy are: Quality of medical management, overprotection, education, employment, marriage and pregnancy. Inadequate treatment is the major reason involved in psychosocial issues. Constant overprotection and pampering leads to behavioural pattern which makes epileptic patient dependent for ever. Education is hampered in epileptic persons. Teachers and students should have proper information regarding seizures. If seizures are well controlled, job opportunities increase. Employers and employees need to be educated about epilepsy. Self-employment is the best in epileptic patients. Regarding marriage, each patient is to be judged on individual merits and type of epilepsy. Society needs to be educated about the facts and consequences of epilepsy. Risk of anti-epileptic drug's usage is very insignificant compared to risk of seizures in pregnancy. So girls are advised to seek medical advice before pregnancy and during follow-up. With more and more support from the society, persons with epilepsy will have the courage and confidence to speak about themselves and their illness. It is only then that we will realise that persons with epilepsy are 'normal' or 'near-normal' and this will break the vicious cycle of stigma.

  8. Do ATP-binding cassette transporters cause pharmacoresistance in epilepsy? Problems and approaches in determining which antiepileptic drugs are affected.

    PubMed

    Löscher, Wolfgang; Luna-Tortós, Carlos; Römermann, Kerstin; Fedrowitz, Maren

    2011-01-01

    Resistance to multiple antiepileptic drugs (AEDs) is a common problem in epilepsy, affecting at least 30% of patients. One prominent hypothesis to explain this resistance suggests an inadequate penetration or excess efflux of AEDs across the blood - brain barrier (BBB) as a result of overexpressed efflux transporters such as P-glycoprotein (Pgp), the encoded product of the multidrug resistance- 1 (MDR1, ABCB1) gene. Pgp and MDR1 are markedly increased in epileptogenic brain tissue of patients with AED-resistant partial epilepsy and following seizures in rodent models of partial epilepsy. In rodent models, AED-resistant rats exhibit higher Pgp levels than responsive animals; increased Pgp expression is associated with lower brain levels of AEDs; and, most importantly, co-administration of Pgp inhibitors reverses AED resistance. Thus, it is reasonable to conclude that Pgp plays a significant role in mediating resistance to AEDs in rodent models of epilepsy - however, whether this phenomenon extends to at least some human refractory epilepsy remains unclear, particularly because it is still a matter of debate which AEDs, if any, are transported by human Pgp. The difficulty in determining which AEDs are substrates of human Pgp is mainly a consequence of the fact that AEDs are highly permeable compounds, which are not easily identified as Pgp substrates in in vitro models of the BBB, such as monolayer (Transwell(®)) efflux assays. By using a modified assay (concentration equilibrium transport assay; CETA), which minimizes the influence of high transcellular permeability, two groups have recently demonstrated that several major AEDs are transported by human Pgp. Importantly, it was demonstrated in these studies that Pgp-mediated transport highly depends on the AED concentration and may not be identified if concentrations below or above the therapeutic range are used. In addition to the efflux transporters, seizure-induced alterations in BBB integrity and activity of

  9. [A Case of Postoperative Paraplegia Caused by Idiopathic Spinal Cord Infarction following Hepatectomy under Both General and Epidural Anesthesia].

    PubMed

    Koga, Yukari; Hiraki, Teruyuki; Ushijima, Kazuo

    2015-04-01

    A 73-year-old woman (height : 155 cm, weight : 55 kg) was scheduled to undergo a laparotomic hepatectomy and radiofrequency ablation for hepatocellular carcinoma. Her medical history did not include any relevant conditions such as cardiovascular or neurological disorders. A thoracic epidural catheter was introduced at T8-9 before the induction of anesthesia with intravenous propofol. General anesthesia was maintained with the inhalation of oxygen, air, and desflurane, and the continuous infusion of remifentanil. Several intraoperative episodes of mild hypotension occurred, each of which was successfully treated with intravenous ephedrine, but otherwise her anesthetic course was uneventful, and she recovered from the anesthesia smoothly. Her postoperative pain was well controlled with continuous epidural infusion of levobupivacaine and fentanyl, and she could walk by herself on postoperative day (POD) 1. However, she suffered weakness in her lower extremities on POD2 and subsequently fell into complete paraplegia with sensory loss below the T4 level on POD3. A magnetic resonance imaging scan taken on POD4 showed an idiopathic spinal cord infarction (SCI) involving levels T1 through T4, although no epidural abnormalities, e.g., hematomas, were detected. Immediate treatment with methylprednisolone, ozagrel, and edaravone failed to resolve her symptoms. We suggest that it is of great importance to consider SCI as a differential diagnosis as soon as possible in cases of unanticipated postoperative paraplegia.

  10. Surgical Treatment of Epilepsy

    PubMed Central

    Miller, John W.; Hakimian, Shahin

    2013-01-01

    Purpose of Review: This article outlines indications for neurosurgical treatment of epilepsy, describes the presurgical workup, summarizes surgical approaches, and details expected risks and benefits. Recent Findings: There is class I evidence for the efficacy of temporal lobectomy in treating intractable seizures, and accumulating documentation that successful surgical treatment reverses much of the disability, morbidity, and excess mortality of chronic epilepsy. Summary: Chronic, uncontrolled focal epilepsy causes progressive disability and increased mortality, but these can be reversed with seizure control. Vigorous efforts to stop seizures are warranted. If two well-chosen and tolerated medication trials do not achieve seizure control, an early workup for epilepsy surgery should be arranged. If this workup definitively identifies the brain region from which the seizures arise, and this region can be removed with a low risk of disabling neurologic deficits, neurosurgery will have a much better chance of stopping seizures than further medication trials. PMID:23739107

  11. Genetics and epilepsy

    PubMed Central

    Steinlein, Ortrud K.

    2008-01-01

    The term “epilepsy” describes a heterogeneous group of disorders, most of them caused by interactions between several or even many genes and environmental factors. Much rarer are the genetic epilepsies that are due to single-gene mutations or defined structural chromosomal aberrations, such as microdeletions. The discovery of several of the genes underlying these rare genetic epilepsies has already considerably contributed to our understanding of the basic mechanisms epileptogenesis. The progress made in the last 15 years in the genetics of epilepsy is providing new possibilities for diagnosis and therapy. Here, different genetic epilepsies are reviewed as examples, to demonstrate the various pathways that can lead from genes to seizures. PMID:18472482

  12. Talking about epilepsy: Challenges parents face when communicating with their child about epilepsy and epilepsy-related issues.

    PubMed

    O'Toole, Stephanie; Lambert, Veronica; Gallagher, Pamela; Shahwan, Amre; Austin, Joan K

    2016-04-01

    The aim of this qualitative study was to explore the challenges that parents of children with epilepsy experienced when engaging in dialog with their child about epilepsy and epilepsy-related issues. Using a qualitative exploratory approach, interviews were conducted with 34 parents of children with epilepsy (aged 6-16 years), consisting of 27 mothers and 7 fathers. Data were transcribed verbatim and thematically analyzed. Findings revealed five main themes: normalizing epilepsy, the invisibility of epilepsy, information concealment, fear of misinforming the child, and difficulty in discussing particular epilepsy-related issues. Many of the communicative challenges experienced by parents impacted on their ability to engage openly in parent-child dialog about epilepsy in the home. Parents face specific challenges when choosing to communicate with their child about epilepsy, relating to creating a sense of normality, reducing fear of causing their child worry, and having a lack of epilepsy-related knowledge. Healthcare professionals who work closely with families living with epilepsy should remain mindful of the importance of discussing family communication surrounding epilepsy and the challenges parents of children with epilepsy face when talking about epilepsy within the home.

  13. Idiopathic hypersomnia.

    PubMed

    Billiard, M

    1996-08-01

    Idiopathic hypersomnia is not as well delineated as narcolepsy and its history is much more recent. There are at least two forms of the disorder: (1) a polysymptomatic form, characterized by excessive daytime sleepiness, nocturnal sleep of abnormally long duration, and signs of sleep drunkenness on awakening, and (2) a monosymptomatic form that manifests only by excessive daytime sleepiness. The most widely used laboratory procedures are nocturnal polysomnographic recording following by an MSLT demonstrating a mean sleep latency of less than 10 minutes. At least in the polysymptomatic form, however, continuous polysomnography on an ad lib protocol deserves to be performed to catch the abnormally long major sleep episode and the long unrefreshing naps. Idiopathic hypersomnia is probably one of the most overdiagnosed sleep disorders. Several other disorders must be excluded before the diagnosis can be considered conclusive. Treatment of idiopathic hypersomnia relies on stimulants, which are frequently less effective and less well tolerated than in narcolepsy.

  14. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

    PubMed

    Jansen, S; Kleefstra, T; Willemsen, M H; de Vries, P; Pfundt, R; Hehir-Kwa, J Y; Gilissen, C; Veltman, J A; de Vries, B B A; Vissers, L E L M

    2016-11-01

    De novo missense mutations and in-frame coding deletions in the X-linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are known to cause Cornelia de Lange syndrome in both males and females. For a long time, loss-of-function (LoF) mutations in SMC1A were considered incompatible with life, as such mutations had not been reported in neither male nor female patients. However, recently, the authors and others reported LoF mutations in females with intellectual disability (ID) and epilepsy. Here we present the detailed phenotype of two females with de novo LoF mutations in SMC1A, including a de novo mutation of single base deletion [c.2364del, p.(Asn788Lysfs*10)], predicted to result in a frameshift, and a de novo deletion of exon 16, resulting in an out-of-frame mRNA splice product [p.(Leu808Argfs*6)]. By combining our patients with the other recently reported females carrying SMC1A LoF mutations, we ascertained a phenotypic spectrum of (severe) ID, therapy-resistant epilepsy, absence/delay of speech, hypotonia and small hands and feet. Our data show the existence of a novel phenotypic entity - distinct from CdLS - and caused by de novo SMC1A LoF mutations.

  15. International veterinary epilepsy task force consensus proposal: diagnostic approach to epilepsy in dogs.

    PubMed

    De Risio, Luisa; Bhatti, Sofie; Muñana, Karen; Penderis, Jacques; Stein, Veronika; Tipold, Andrea; Berendt, Mette; Farqhuar, Robyn; Fischer, Andrea; Long, Sam; Mandigers, Paul J J; Matiasek, Kaspar; Packer, Rowena M A; Pakozdy, Akos; Patterson, Ned; Platt, Simon; Podell, Michael; Potschka, Heidrun; Batlle, Martí Pumarola; Rusbridge, Clare; Volk, Holger A

    2015-08-28

    This article outlines the consensus proposal on diagnosis of epilepsy in dogs by the International Veterinary Epilepsy Task Force. The aim of this consensus proposal is to improve consistency in the diagnosis of epilepsy in the clinical and research settings. The diagnostic approach to the patient presenting with a history of suspected epileptic seizures incorporates two fundamental steps: to establish if the events the animal is demonstrating truly represent epileptic seizures and if so, to identify their underlying cause. Differentiation of epileptic seizures from other non-epileptic episodic paroxysmal events can be challenging. Criteria that can be used to make this differentiation are presented in detail and discussed. Criteria for the diagnosis of idiopathic epilepsy (IE) are described in a three-tier system. Tier I confidence level for the diagnosis of IE is based on a history of two or more unprovoked epileptic seizures occurring at least 24 h apart, age at epileptic seizure onset of between six months and six years, unremarkable inter-ictal physical and neurological examination, and no significant abnormalities on minimum data base blood tests and urinalysis. Tier II confidence level for the diagnosis of IE is based on the factors listed in tier I and unremarkable fasting and post-prandial bile acids, magnetic resonance imaging (MRI) of the brain (based on an epilepsy-specific brain MRI protocol) and cerebrospinal fluid (CSF) analysis. Tier III confidence level for the diagnosis of IE is based on the factors listed in tier I and II and identification of electroencephalographic abnormalities characteristic for seizure disorders. The authors recommend performing MRI of the brain and routine CSF analysis, after exclusion of reactive seizures, in dogs with age at epileptic seizure onset <6 months or >6 years, inter-ictal neurological abnormalities consistent with intracranial neurolocalisation, status epilepticus or cluster seizure at epileptic seizure onset

  16. A gene defect causing a novel progressive epilepsy with mental retardation, EPMR, maps to chromosome 8p

    SciTech Connect

    Ranta, S.; Tahvanainen, E.; Karila, E.

    1994-09-01

    EPMR (progressive epilepsy with mental retardation) is a newly discovered autosomal recessively inherited disorder which occurs with high frequency in an isolated rural population in Finland. So far 25 patients have been identified, 21 of whom are alive. Twenty-three patients share a common ancestor from the 18th century. The main features of EPMR are: normal early development, tonic-clonic seizures with onset between ages 5 and 10, and mental retardation which begins approximately 2 years after the onset of epilepsy and soon leads to deepening mental retardation. Adult patients do not manage their daily life without help. The EEG is normal at the onset of epilepsy but later progressive slowing of the background activity occurs. The etiology and pathogenesis of EPMR remain known. As this is a novel disease entity without any definitive diagnostic marker we wished to begin its elucidation by first defining its gene locus. A random search for linkage in four multiplex families (only 20 individuals tested) resulted in the finding of linkage to marker D8S264 with a lod score of 4.45 at zero recombination. The EPMR gene resides in a 7 centimorgan interval between marker loci AFM185xb2 and D8S262 with a maximum multipoint lod score of 7.03 at 1.8 centimorgans proximal to D8S264. Physically this region is very distal on 8p. Of the sixteen EPMR chromosomes haplotyped 15 were identical or almost identical. One chromosome, however, had a distinctly different haplotype raising the possibility of there being two different mutations or one very old mutation. These findings are a starting point toward isolating and characterizing the gene and its protein product. Physical mapping has been initiated by isolating nine YACs from the region.

  17. Chitin Oligosaccharide (COS) Reduces Antibiotics Dose and Prevents Antibiotics-Caused Side Effects in Adolescent Idiopathic Scoliosis (AIS) Patients with Spinal Fusion Surgery

    PubMed Central

    Qu, Yang; Xu, Jinyu; Zhou, Haohan; Dong, Rongpeng; Kang, Mingyang; Zhao, Jianwu

    2017-01-01

    Antibiotics are always considered for surgical site infection (SSI) in adolescent idiopathic scoliosis (AIS) surgery. However, the use of antibiotics often causes the antibiotic resistance of pathogens and side effects. Thus, it is necessary to explore natural products as drug candidates. Chitin Oligosaccharide (COS) has anti-inflammation and anti-bacteria functions. The effects of COS on surgical infection in AIS surgery were investigated. A total of 312 AIS patients were evenly and randomly assigned into control group (CG, each patient took one-gram alternative Azithromycin/Erythromycin/Cloxacillin/Aztreonam/Ceftazidime or combined daily), experiment group (EG, each patient took 20 mg COS and half-dose antibiotics daily), and placebo group (PG, each patient took 20 mg placebo and half-dose antibiotics daily). The average follow-up was one month, and infection severity and side effects were analyzed. The effects of COS on isolated pathogens were analyzed. SSI rates were 2%, 3% and 8% for spine wounds and 1%, 2% and 7% for iliac wound in CG, EG and PG (p < 0.05), respectively. COS reduces the side effects caused by antibiotics (p < 0.05). COS improved biochemical indexes and reduced the levels of interleukin (IL)-6 and tumor necrosis factor (TNF) alpha. COS reduced the antibiotics dose and antibiotics-caused side effects in AIS patients with spinal fusion surgery by improving antioxidant and anti-inflammatory activities. COS should be developed as potential adjuvant for antibiotics therapies. PMID:28335413

  18. Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

    PubMed Central

    Berkovic, Samuel F.; Dibbens, Leanne M.; Oshlack, Alicia; Silver, Jeremy D.; Katerelos, Marina; Vears, Danya F.; Lüllmann-Rauch, Renate; Blanz, Judith; Zhang, Ke Wei; Stankovich, Jim; Kalnins, Renate M.; Dowling, John P.; Andermann, Eva; Andermann, Frederick; Faldini, Enrico; D'Hooge, Rudi; Vadlamudi, Lata; Macdonell, Richard A.; Hodgson, Bree L.; Bayly, Marta A.; Savige, Judy; Mulley, John C.; Smyth, Gordon K.; Power, David A.; Saftig, Paul; Bahlo, Melanie

    2008-01-01

    Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three unrelated affected individuals and their relatives, we used homozygosity mapping with single-nucleotide polymorphism chips to localize AMRF. We then used microarray-expression analysis to prioritize candidates prior to sequencing. The disorder was mapped to 4q13-21, and microarray-expression analysis identified SCARB2/Limp2, which encodes a lysosomal-membrane protein, as the likely candidate. Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein. Reanalysis of an existing Limp2 knockout mouse showed intracellular inclusions in cerebral and cerebellar cortex, and the kidneys showed subtle glomerular changes. This study highlights that recessive genes can be identified with a very small number of subjects. The ancestral lysosomal-membrane protein SCARB2/LIMP-2 is responsible for AMRF. The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies. PMID:18308289

  19. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.

    PubMed

    Crompton, Douglas E; Scheffer, Ingrid E; Taylor, Isabella; Cook, Mark J; McKelvie, Penelope A; Vears, Danya F; Lawrence, Kate M; McMahon, Jacinta M; Grinton, Bronwyn E; McIntosh, Anne M; Berkovic, Samuel F

    2010-11-01

    Temporal lobe epilepsy is the commonest partial epilepsy of adulthood. Although generally perceived as an acquired disorder, several forms of familial temporal lobe epilepsy, with mesial or lateral seizure semiology, have been described. Descriptions of familial mesial temporal lobe epilepsy have varied widely from a benign epilepsy syndrome with prominent déjà vu and without antecedent febrile seizures or magnetic resonance imaging abnormalities, to heterogeneous, but generally more refractory epilepsies, often with a history of febrile seizures and with frequent hippocampal atrophy and high T₂ signal on magnetic resonance imaging. Compelling evidence of a genetic aetiology (rather than chance aggregation) in familial mesial temporal lobe epilepsy has come from twin studies. Dominant inheritance has been reported in two large families, though the usual mode of inheritance is not known. Here, we describe clinical and neurophysiological features of 20 new mesial temporal lobe epilepsy families including 51 affected individuals. The epilepsies in these families were generally benign, and febrile seizure history was infrequent (9.8%). No evidence of hippocampal sclerosis or dysplasia was present on brain imaging. A single individual underwent anterior temporal lobectomy, with subsequent seizure freedom and histopathological evidence of hippocampal sclerosis was not found. Inheritance patterns in probands' relatives were analysed in these families, together with 19 other temporal lobe epilepsy families previously reported by us. Observed frequencies of epilepsies in relatives were lower than predicted by dominant Mendelian models, while only a minority (8/39) of families could be compatible with recessive inheritance. These findings strongly suggest that complex inheritance, similar to that widely accepted in the idiopathic generalized epilepsies, is the usual mode of inheritance in familial mesial temporal lobe epilepsy. This disorder, which appears to be

  20. Idiopathic hypersomnia.

    PubMed

    Billiard, Michel; Sonka, Karel

    2016-10-01

    Idiopathic hypersomnia continues to evolve from the concept of "sleep drunkenness" introduced by Bedrich Roth in Prague in 1956 and the description of idiopathic hypersomnia with two forms, polysymptomatic and monosymptomatic, by the same Bedrich Roth in 1976. The diagnostic criteria of idiopathic hypersomnia have varied with the successive revisions of the International classifications of sleep disorders, including the recent 3rd edition. No epidemiological studies have been conducted so far. Disease onset occurs most often during adolescence or young adulthood. A familial background is often present but rigorous studies are still lacking. The key manifestation is hypersomnolence. It is often accompanied by sleep of long duration and debilitating sleep inertia. Polysomnography (PSG) followed by a multiple sleep latency test (MSLT) is mandatory, as well as a 24 h PSG or a 2-wk actigraphy in association with a sleep log to ensure a total 24-h sleep time longer than or equal to 66O minutes, when the mean sleep latency on the MSLT is longer than 8 min. Yet, MSLT is neither sensitive nor specific and the polysomnographic diagnostic criteria require continuous readjustment and biologic markers are still lacking. Idiopathic hypersomnia is most often a chronic condition though spontaneous remission may occur. The condition is disabling, sometimes even more so than narcolepsy type 1 or 2. Based on neurochemical, genetic and immunological analyses as well as on exploration of the homeostatic and circadian processes of sleep, various pathophysiological hypotheses have been proposed. Differential diagnosis involves a number of diseases and it is not yet clear whether idiopathic hypersomnia and narcolepsy type 2 are not the same condition. Until now, the treatment of idiopathic hypersomnia has mirrored that of the sleepiness of narcolepsy type 1 or 2. The first randomized, double-blind, placebo-controlled trials of modafinil have just been published, as well as a double

  1. Juvenile Idiopathic Arthritis

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Juvenile Idiopathic Arthritis (JIA) KidsHealth > For Teens > Juvenile Idiopathic ... can affect people under age 17. What Is Juvenile Idiopathic Arthritis? Arthritis doesn't affect young people ...

  2. Musicogenic epilepsy.

    PubMed Central

    Brien, S E; Murray, T J

    1984-01-01

    A case of musicogenic epilepsy is reported in which the seizures were precipitated by singing voices. It was found that some singers' voices were particularly epileptogenic and that some of their songs, but not others, would precipitate a seizure. A study of the "offending" songs and singers did not reveal a common key, chord, harmonic interval, pitch or rhythm, and the emotional feeling or intensity of the music did not seem to be relevant. However, the voices that caused the seizures had a throaty, "metallic" quality. Such a singing voice results from incorrect positioning of the larynx such that it is not allowed to descend fully during singing; consequently, the vowel sounds produced must be manipulated by the lips or jaw to be distinguished. This trait is most common in singers with a low voice range who sing softly and use a microphone. It is not seen in trained operatic or musical theatre singers. The results of repeated testing showed that the seizures in this patient were caused by listening to singers who positioned the larynx incorrectly. PMID:6498678

  3. Epilepsy and vaccinations: Italian guidelines.

    PubMed

    Pruna, Dario; Balestri, Paolo; Zamponi, Nelia; Grosso, Salvatore; Gobbi, Giuseppe; Romeo, Antonino; Franzoni, Emilio; Osti, Maria; Capovilla, Giuseppe; Longhi, Riccardo; Verrotti, Alberto

    2013-10-01

    Reports of childhood epilepsies in temporal association with vaccination have had a great impact on the acceptance of vaccination programs by health care providers, but little is known about this possible temporal association and about the types of seizures following vaccinations. For these reasons the Italian League Against Epilepsy (LICE), in collaboration with other Italian scientific societies, has decided to generate Guidelines on Vaccinations and Epilepsy. The aim of Guidelines on Vaccinations and Epilepsy is to present recent unequivocal evidence from published reports on the possible relationship between vaccines and epilepsy in order to provide information about contraindications and risks of vaccinations in patients with epilepsy. The following main issues have been addressed: (1) whether contraindications to vaccinations exist in patients with febrile convulsions, epilepsy, and/or epileptic encephalopathies; and (2) whether any vaccinations can cause febrile seizures, epilepsy, and/or epileptic encephalopathies. Diphtheria-tetanus-pertussis (DTP) vaccination and measles, mumps, and rubella vaccination (MMR) increase significantly the risk of febrile seizures. Recent observations and data about the relationships between vaccination and epileptic encephalopathy show that some cases of apparent vaccine-induced encephalopathy could in fact be caused by an inherent genetic defect with no causal relationship with vaccination.

  4. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

    PubMed

    Singh, Nanda A; Pappas, Chris; Dahle, E Jill; Claes, Lieve R F; Pruess, Timothy H; De Jonghe, Peter; Thompson, Joel; Dixon, Missy; Gurnett, Christina; Peiffer, Andy; White, H Steve; Filloux, Francis; Leppert, Mark F

    2009-09-01

    A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between transmembrane domains I and II that was absent from 586 ethnically matched population control chromosomes. To establish a functional role for this mutation in seizure susceptibility, we introduced the orthologous mutation into the murine Scn9a ortholog using targeted homologous recombination. Compared to wild-type mice, homozygous Scn9a(N641Y/N641Y) knockin mice exhibit significantly reduced thresholds to electrically induced clonic and tonic-clonic seizures, and increased corneal kindling acquisition rates. Together, these data strongly support the SCN9A p.N641Y mutation as disease-causing in this family. To confirm the role of SCN9A in FS, we analyzed a collection of 92 unrelated FS patients and identified additional highly conserved Na(v)1.7 missense variants in 5% of the patients. After one of these children with FS later developed Dravet syndrome (severe myoclonic epilepsy of infancy), we sequenced the SCN1A gene, a gene known to be associated with Dravet syndrome, and identified a heterozygous frameshift mutation. Subsequent analysis of 109 Dravet syndrome patients yielded nine Na(v)1.7 missense variants (8% of the patients), all in highly conserved amino acids. Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations. This study provides evidence for a role of SCN9A in human epilepsies, both as a cause of FS and as a partner with SCN1A mutations.

  5. Cingulate Epilepsy

    PubMed Central

    Alkawadri, Rafeed; So, Norman K.; Van Ness, Paul C.; Alexopoulos, Andreas V.

    2016-01-01

    IMPORTANCE The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE To characterize the clinical and electrophysiological findings of epilepsies arising from the anterior and posterior cingulate gyrus. DESIGN, SETTING, AND PARTICIPANTS We studied consecutive cingulate gyrus epilepsy cases identified retrospectively from the Cleveland Clinic and University of Texas Southwestern Medical Center epilepsy databases from 1992 to 2009. Participants included 14 consecutive cases of cingulate gyrus epilepsies confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. MAIN OUTCOMES AND MEASURES The main outcome measure was improvement in seizure frequency following surgery. The clinical, video electroencephalography, neuroimaging, pathology, and surgical outcome data were reviewed. RESULTS All 14 patients had cingulate epilepsy confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. They were divided into 3 groups based on anatomical location of the lesion and corresponding seizure semiology. In the posterior cingulate group, all 4 patients had electroclinical findings suggestive of temporal origin of the epilepsy. The anterior cingulate cases were divided into a typical (Bancaud) group (6 cases with hypermotor seizures and infrequent generalization with the presence of fear, laughter, or severe interictal personality changes) and an atypical group (4 cases presenting with simple motor seizures and a tendency for more frequent generalization and less-favorable long-term surgical outcome). All atypical cases were associated with an underlying infiltrative astrocytoma. CONCLUSIONS AND RELEVANCE Posterior cingulate gyrus epilepsy may

  6. Gelastic epilepsy

    PubMed Central

    Gumpert, John; Hansotia, Phiroze; Upton, Adrian

    1970-01-01

    A case of retinitis pigmentosa with laughing epilepsy is described. Stereotyped repetitive episodes of limb movement, rigidity, and cackling laughter responding to diazepam are recorded. One episode is presented as gelastic status epilepticus and the clinical and EEG features are reported. Features of gelastic epilepsy are discussed and briefly compared with other laughing disorders. A short history of the condition is accompanied by a relevant review of the literature. The possible importance of hypothalamic lesions in laughing epilepsy is discussed and the absence of consistent EEG findings is noted. Images PMID:5505675

  7. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

    PubMed

    Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B

    2008-10-01

    We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).

  8. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

    PubMed

    Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

    2017-02-02

    Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10(-14)). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1.

  9. Genetic models of focal epilepsies.

    PubMed

    Boillot, Morgane; Baulac, Stéphanie

    2016-02-15

    Focal epilepsies were for a long time thought to be acquired disorders secondary to cerebral lesions. However, the important role of genetic factors in focal epilepsies is now well established. Several focal epilepsy syndromes are now proven to be monogenic disorders. While earlier genetic studies suggested a strong contribution of ion channel and neurotransmitter receptor genes, later work has revealed alternative pathways, among which the mammalian target of rapamycin (mTOR) signal transduction pathway with DEPDC5. In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF). We also emphasize, through a review of the current literature, the contribution of in vitro and in vivo models developed to unveil the pathogenic mechanisms underlying these two epileptic syndromes.

  10. Epidemiology of epilepsy.

    PubMed

    Abramovici, S; Bagić, A

    2016-01-01

    Modern epidemiology of epilepsy maximizes the benefits of advanced diagnostic methods and sophisticated techniques for case ascertainment in order to increase the diagnostic accuracy and representativeness of the cases and cohorts studied, resulting in better comparability of similarly performed studies. Overall, these advanced epidemiologic methods are expected to yield a better understanding of diverse risk factors, high-risk populations, seizure triggers, multiple and poorly understood causes of epilepsy, including the increasing and complex role of genetics, and establish the natural course of treated and untreated epilepsy and syndromes - all of which form the foundation of an attempt to prevent epileptogenesis as the primary prophylaxis of epilepsy. Although data collection continues to improve, epidemiologists still need to overcome definition and coding variability, insufficient documentation, as well as the interplay of socioeconomic factors and stigma. As most of the 65-70 million people with epilepsy live outside of resource-rich countries, extensive underdiagnosis, misdiagnosis, and undertreatment are likely. Epidemiology will continue to provide the necessary information to the medical community, public, and regulators as the foundation for improved health policies, targeted education, and advanced measures of prevention and prognostication of the most common severe brain disorder.

  11. Up-to-date Critical Review of the Classification of Epilepsies and Epileptic Seizures

    PubMed Central

    AKTEKİN, Berrin

    2015-01-01

    The classification of epileptic seizures and epilepsies is a subject of interest in various medical disciplines (such as neurology, pediatric neurology, molecular biology and genetics, neurosurgery, pharmacology, radiology, histopathology), and each of them requires a different approach in their practice. In last 15 years, enormous amount of debate in which irrelevant to actual level of knowledge, were ongoing in the literature. Epilepsy classification is a fundamental tool that impacts not only daily clinical practice but also research era and education. The current lack of consensus in this field causes a serious obstacle in patient management, student and resident education, and information sharing among different scientific interest groups. The comparison of different classification proposals by means of positive and negative aspects is beyond the scope of discussion in this article; therefore, I will try to give a brief summary of our current level of understanding. Main issues regarding the classifications proposal are as follows: Concepts of epileptic seizure/epilepsy/syndromeFocal & generalized epilepsy conceptIdiopathic, genetic, cryptogenic, and symptomatic (structural/metabolic) concepts

  12. About Epilepsy

    MedlinePlus

    ... diagnosed? How is epilepsy treated? What is an electroencephalography (EEG)? What is a Positron Emission Tomography (PET) ... Go back to the top What is an electroencephalography (EEG)? An electroencephalogram (EEG) is a test to ...

  13. About Epilepsy

    MedlinePlus

    ... EEG Telemetry? What is Magnetoencephalography (MEG)? What is Magnetic Resonance Imaging (MRI)? About Pre-surgical Evaluation for Epilepsy. What ... In most cases, an EEG (electroencephalogram) and MRI (magnetic resonance imaging) test will be performed as well. You will ...

  14. Levetiracetam in the treatment of childhood epilepsy

    PubMed Central

    Wheless, James W

    2007-01-01

    Epilepsy is a common pediatric neurologic disorder that is difficult to manage in a substantial portion of children. Levetiracetam (LEV) is a novel antiepileptic drug (AED) that has recently been approved as add-on treatment for various seizure types in epilepsy populations that include children: for refractory partial seizures in epilepsy patients ≥4 years old, for myoclonic seizures in juvenile myoclonic epilepsy patients ≥12 years old, and for primary generalized tonic-clonic seizures in idiopathic generalized epilepsy patients (≥6 years old with FDA approval; ≥12 years old with EMEA approval). A review of published pediatric studies indicates that the efficacy of LEV is best established for partial seizures; however, results from recent double-blind and open-label trials indicate that adjunctive LEV also controls generalized seizures – particularly myoclonic and generalized tonic-clonic – in children and adolescents with primary generalized epilepsy. LEV was well-tolerated in pediatric studies. The most common adverse events (AEs) reported were sedation related. Behavioral AEs were among the most commonly reported events in some trials; conversely, improvements in behavior and cognition were also frequently reported. LEV appears to be a safe and effective AED with unique characteristics that benefit the treatment of children with epilepsy. PMID:19300570

  15. Characterisation and reduction of the EEG artefact caused by the helium cooling pump in the MR environment: validation in epilepsy patient data.

    PubMed

    Rothlübbers, Sven; Relvas, Vânia; Leal, Alberto; Murta, Teresa; Lemieux, Louis; Figueiredo, Patrícia

    2015-03-01

    The EEG acquired simultaneously with fMRI is distorted by a number of artefacts related to the presence of strong magnetic fields, which must be reduced in order to allow for a useful interpretation and quantification of the EEG data. For the two most prominent artefacts, associated with magnetic field gradient switching and the heart beat, reduction methods have been developed and applied successfully. However, a number of artefacts related to the MR-environment can be found to distort the EEG data acquired even without ongoing fMRI acquisition. In this paper, we investigate the most prominent of those artefacts, caused by the Helium cooling pump, and propose a method for its reduction and respective validation in data collected from epilepsy patients. Since the Helium cooling pump artefact was found to be repetitive, an average template subtraction method was developed for its reduction with appropriate adjustments for minimizing the degradation of the physiological part of the signal. The new methodology was validated in a group of 15 EEG-fMRI datasets collected from six consecutive epilepsy patients, where it successfully reduced the amplitude of the artefact spectral peaks by 95 ± 2 % while the background spectral amplitude within those peaks was reduced by only -5 ± 4 %. Although the Helium cooling pump should ideally be switched off during simultaneous EEG-fMRI acquisitions, we have shown here that in cases where this is not possible the associated artefact can be effectively reduced in post processing.

  16. Epilepsy in sub-Saharan Africa.

    PubMed

    Prevett, Martin

    2013-02-01

    Over 10 million people in Africa have epilepsy of which most have no access to appropriate treatment. Epilepsy in Africa is different- the incidence is higher, and the causes and cultural attitudes towards it differ. This article examines the epidemiology, causes and treatment of epilepsy in sub-Saharan Africa and looks at the challenges to improve access to treatment and potential solutions and the implications for neurologists in more developed countries.

  17. Direct evidence for a β1-adrenergic receptor–directed autoimmune attack as a cause of idiopathic dilated cardiomyopathy

    PubMed Central

    Jahns, Roland; Boivin, Valérie; Hein, Lutz; Triebel, Sven; Angermann, Christiane E.; Ertl, Georg; Lohse, Martin J.

    2004-01-01

    Today, dilated cardiomyopathy (DCM) represents the main cause of severe heart failure and disability in younger adults and thus is a challenge for public health. About 30% of DCM cases are genetic in origin; however, the large majority of cases are sporadic, and a viral or immune pathogenesis is suspected. Following the established postulates for pathogenesis of autoimmune diseases, here we provide direct evidence that an autoimmune attack directed against the cardiac β1-adrenergic receptor may play a causal role in DCM. First, we immunized inbred rats against the second extracellular β1-receptor loop (β1-ECII; 100% sequence identity between human and rat) every month. All these rats developed first, receptor-stimulating anti–β1-ECII Ab’s and then, after 9 months, progressive severe left ventricular dilatation and dysfunction. Second, we transferred sera from anti–β1-ECII–positive and Ab-negative animals every month to healthy rats of the same strain. Strikingly, all anti–β1-ECII–transferred rats also developed a similar cardiomyopathic phenotype within a similar time frame, underlining the pathogenic potential of these receptor Ab’s. As a consequence, β1-adrenergic receptor–targeted autoimmune DCM should now be categorized with other known receptor Ab-mediated autoimmune diseases, such as Graves disease or myasthenia gravis. Although carried out in an experimental animal model, our findings should further encourage the development of therapeutic strategies that combat harmful anti–β1-ECII in receptor Ab–positive DCM patients. PMID:15146239

  18. Targeting BK (big potassium) Channels in Epilepsy

    PubMed Central

    N'Gouemo, Prosper

    2011-01-01

    Introduction Epilepsies are disorders of neuronal excitability characterized by spontaneous and recurrent seizures. Ion channels are critical for regulating neuronal excitability and, therefore, can contribute significantly to epilepsy pathophysiology. In particular, large conductance, Ca2+-activated K+ (BKCa) channels play an important role in seizure etiology. These channels are activated by both membrane depolarization and increased intracellular Ca2+. This unique coupling of Ca2+ signaling to membrane depolarization is important in controlling neuronal hyperexcitability, as outward K+ current through BKCa channels hyperpolarizes neurons. Areas covered This review focuses on BKCa channel structure-function and discusses the role of these channels in epilepsy pathophysiology. Expert opinion Loss-of-function BKCa channels contribute neuronal hyperexcitability that can lead to temporal lobe epilepsy, tonic-clonic seizures and alcohol withdrawal seizures. Similarly, BKCa channel blockade can trigger seizures and status epilepticus. Paradoxically, some mutations in BKCa channel subunit can give rise to the channel gain-of-function that leads to development of idiopathic epilepsy (primarily absence epilepsy). Seizures themselves also enhance BKCa channel currents associated with neuronal hyperexcitability, and blocking BKCa channels suppresses generalized tonic-clonic seizures. Thus, both loss-of-function and gain-of-function BKCa channels might serve as molecular targets for drugs to suppress certain seizure phenotypes including temporal lobe seizures and absence seizures, respectively. PMID:21923633

  19. Idiopathic gingival fibromatosis

    PubMed Central

    Dani, Nitin Hemchandra; Khanna, Dinkar Parveen; Bhatt, Vaibhavi Hitesh; Joshi, Chaitanya Pradeep

    2015-01-01

    Idiopathic gingival fibromatosis (IGF) is a rare hereditary condition characterized by slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva caused by increase in submucosal connective tissue elements, mostly associated with some syndrome. This case report describes a case of nonsyndromic generalized IGF in an 18-year-old male patient who presented with generalized gingival enlargement. The enlarged tissue was surgically removed by internal bevel gingivectomy and ledge and wedge procedure. The patient was regularly monitored clinically for improvement in his periodontal condition as well as for any recurrence of gingival overgrowth. PMID:26941525

  20. Limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies as a cause of adult-onset mesial temporal lobe epilepsy.

    PubMed

    Toyota, Tomoko; Akamatsu, Naoki; Tsuji, Sadatoshi; Nishizawa, Shigeru

    2014-06-01

    Recently, some reports have indicated that limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies (VGKC-Ab) is a cause of adult-onset mesial temporal lobe epilepsy (MTLE). We report a 53-year-old woman who had her first epileptic seizure at the age of 50 years old. Examination by 3-Tesla brain MRI revealed left hippocampal high signal intensity and swelling on fluid-attenuated inversion recovery (FLAIR) and T2-weighted imaging at 2 months after her first seizure. The patient received intravenous methylprednisolone and carbamazepine 300 mg/day. One month later, MRI revealed improvement of her left hippocampal abnormalities. Thereafter, she had no seizures, however, three years after her first seizure, EEG revealed a seizure pattern in the left temporal region. Brain MRI revealed left hippocampal high signal intensity and brain fluorodeoxyglucose positron emission tomography revealed hypermetabolism. Her serum VGKC-Ab levels were 118 pM(normal < 100 pM). Intravenous methylprednisolone therapy was reinitiated. Two months later, her hippocampal abnormalities had improved and 3 months later her VGKC-Ab levels decreased to 4.4 pM. Remission of the epileptic seizures was also observed. This MTLE in the middle age was considered as limbic encephalitis associated with anti- VGKC-Ab. In cases of unexplained adult-onset MTLE, limbic encephalitis associated with anti-VGKC-Ab, which responds well to immunotherapy, should be considered in the differential diagnosis.

  1. Association of Family History of Epilepsy with Earlier Age Onset of Juvenile Myoclonic Epilepsy

    PubMed Central

    NAJAFI, Mohammad Reza; NAJAFI, Mohammad Amin; SAFAEI, Ali

    2016-01-01

    Objective Juvenile myoclonic epilepsy (JME) is supposedly the most frequent subtype of idiopathic generalized epilepsies (IGE). The aim of this study was to determine the prevalence of JME and comparison of patients’ demographics as well as timeline of the disease between positive family history epileptic patients (PFHE) and negative family history epileptic patients (NFHE) among sample of Iranian epileptic patients. Materials & Methods From Feb. 2006 to Oct. 2009, 1915 definite epileptic patients (873 females) referred to epilepsy clinics in Isfahan, central Iran, were surveyed and among them, 194 JME patients were diagnosed. JME was diagnosed by its specific clinical and EEG criteria. Patients were divided into two groups as PFHE and NFHE and data were compared between them. Results JME was responsible for 10% (194 patients) of all types of epilepsies. Of JME patients, 53% were female. In terms of family history of epilepsy, 40% were positive. No significant differences was found between PFHE and NFHE groups as for gender (P>0.05). Age of epilepsy onset was significantly earlier in PFHE patients (15 vs. 22 yr, P<0.001). Occurrence of JME before 18 yr old among PFHE patients was significantly higher (OR=2.356, P=0.007). Conclusion A family history of epilepsy might be associated with an earlier age of onset in patients with JME. PMID:27247579

  2. Antiepileptic Drug Withdrawal in Dogs with Epilepsy.

    PubMed

    Gesell, Felix Kaspar; Hoppe, Sonja; Löscher, Wolfgang; Tipold, Andrea

    2015-01-01

    Epilepsy is one of the most common neurological disorders in dogs and is treated by chronic administration of antiepileptic drugs (AEDs). In human beings with epilepsy, it is common clinical practice to consider drug withdrawal after a patient has been in remission (seizure free) for three or more years, but withdrawal is associated with the risk of relapse. In the present study, the consequences of AED withdrawal were studied in dogs with epilepsy. Therefore, 200 owners of dogs with idiopathic or presumed idiopathic epilepsy were contacted by telephone interview, 138 cases could be enrolled. In 11 cases, the therapy had been stopped after the dogs had become seizure free for a median time of 1 year. Reasons for AED withdrawal were appearance or fear of adverse side effects, financial aspects, and the idea that the medication could be unnecessary. Following AED withdrawal, four of these dogs remained seizure free, seven dogs suffered from seizure recurrence, of which only three dogs could regain seizure freedom after resuming AED therapy. Due to the restricted case number, an exact percentage of dogs with seizure recurrence after AED withdrawal cannot be given. However, the present study gives a hint that similar numbers as in human patients are found, and the data can help owners of epileptic dogs and the responsible clinician to decide when and why to stop antiepileptic medication.

  3. Antiepileptic Drug Withdrawal in Dogs with Epilepsy

    PubMed Central

    Gesell, Felix Kaspar; Hoppe, Sonja; Löscher, Wolfgang; Tipold, Andrea

    2015-01-01

    Epilepsy is one of the most common neurological disorders in dogs and is treated by chronic administration of antiepileptic drugs (AEDs). In human beings with epilepsy, it is common clinical practice to consider drug withdrawal after a patient has been in remission (seizure free) for three or more years, but withdrawal is associated with the risk of relapse. In the present study, the consequences of AED withdrawal were studied in dogs with epilepsy. Therefore, 200 owners of dogs with idiopathic or presumed idiopathic epilepsy were contacted by telephone interview, 138 cases could be enrolled. In 11 cases, the therapy had been stopped after the dogs had become seizure free for a median time of 1 year. Reasons for AED withdrawal were appearance or fear of adverse side effects, financial aspects, and the idea that the medication could be unnecessary. Following AED withdrawal, four of these dogs remained seizure free, seven dogs suffered from seizure recurrence, of which only three dogs could regain seizure freedom after resuming AED therapy. Due to the restricted case number, an exact percentage of dogs with seizure recurrence after AED withdrawal cannot be given. However, the present study gives a hint that similar numbers as in human patients are found, and the data can help owners of epileptic dogs and the responsible clinician to decide when and why to stop antiepileptic medication. PMID:26664952

  4. Juvenile myoclonic epilepsy: epidemiology, pathophysiology, and management.

    PubMed

    Welty, Timothy E

    2006-01-01

    Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome that begins most frequently in the early teenage years. It is officially classified as a type of idiopathic generalized epilepsy and is often under-recognized or misdiagnosed. This syndrome has a strong genetic component with multiple gene mutations being associated with the clinical presentation. Based upon genetic associations, there may be multiple pathophysiologic mechanisms for the disorder; the pathophysiology has not been clearly defined. A diagnosis of JME is made using the clinical history and EEG findings. Valproic acid is the primary antiepileptic drug (AED) used for JME, but some newer AEDs may be effective alternatives. Selection of an appropriate AED is essential to the proper management of JME, because of the possibility of exacerbation of seizures by some AEDs and the adverse effect profiles of effective drugs. It is important for clinicians to understand JME to correctly diagnose and manage patients with this syndrome.

  5. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.

    PubMed

    Guo, Long; Yamashita, Hiroshi; Kou, Ikuyo; Takimoto, Aki; Meguro-Horike, Makiko; Horike, Shin-ichi; Sakuma, Tetsushi; Miura, Shigenori; Adachi, Taiji; Yamamoto, Takashi; Ikegawa, Shiro; Hiraki, Yuji; Shukunami, Chisa

    2016-01-01

    Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1) and FLJ41350 by a genome-wide association study. Here, we characterized the associated non-coding variant and investigated the function of these genes. A chromosome conformation capture assay revealed that the genome region with the most significantly associated single nucleotide polymorphism (rs11190870) physically interacted with the promoter region of LBX1-FLJ41350. The promoter in the direction of LBX1, combined with a 590-bp region including rs11190870, had higher transcriptional activity with the risk allele than that with the non-risk allele in HEK 293T cells. The ubiquitous overexpression of human LBX1 or either of the zebrafish lbx genes (lbx1a, lbx1b, and lbx2), but not FLJ41350, in zebrafish embryos caused body curvature followed by death prior to vertebral column formation. Such body axis deformation was not observed in transcription activator-like effector nucleases mediated knockout zebrafish of lbx1b or lbx2. Mosaic expression of lbx1b driven by the GATA2 minimal promoter and the lbx1b enhancer in zebrafish significantly alleviated the embryonic lethal phenotype to allow observation of the later onset of the spinal curvature with or without vertebral malformation. Deformation of the embryonic body axis by lbx1b overexpression was associated with defects in convergent extension, which is a component of the main axis-elongation machinery in gastrulating embryos. In embryos overexpressing lbx1b, wnt5b, a ligand of the non-canonical Wnt/planar cell polarity (PCP) pathway, was significantly downregulated. Injection of mRNA for wnt5b or RhoA, a key downstream effector of Wnt/PCP signaling, rescued the defective convergent extension phenotype and attenuated the lbx1b-induced curvature of the body axis. Thus, our study presents a novel pathological feature of LBX1 and its zebrafish homologs in body axis deformation at various stages of

  6. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation

    PubMed Central

    Guo, Long; Yamashita, Hiroshi; Kou, Ikuyo; Takimoto, Aki; Meguro-Horike, Makiko; Horike, Shin-ichi; Sakuma, Tetsushi; Miura, Shigenori; Adachi, Taiji; Yamamoto, Takashi; Ikegawa, Shiro; Hiraki, Yuji; Shukunami, Chisa

    2016-01-01

    Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1) and FLJ41350 by a genome-wide association study. Here, we characterized the associated non-coding variant and investigated the function of these genes. A chromosome conformation capture assay revealed that the genome region with the most significantly associated single nucleotide polymorphism (rs11190870) physically interacted with the promoter region of LBX1-FLJ41350. The promoter in the direction of LBX1, combined with a 590-bp region including rs11190870, had higher transcriptional activity with the risk allele than that with the non-risk allele in HEK 293T cells. The ubiquitous overexpression of human LBX1 or either of the zebrafish lbx genes (lbx1a, lbx1b, and lbx2), but not FLJ41350, in zebrafish embryos caused body curvature followed by death prior to vertebral column formation. Such body axis deformation was not observed in transcription activator-like effector nucleases mediated knockout zebrafish of lbx1b or lbx2. Mosaic expression of lbx1b driven by the GATA2 minimal promoter and the lbx1b enhancer in zebrafish significantly alleviated the embryonic lethal phenotype to allow observation of the later onset of the spinal curvature with or without vertebral malformation. Deformation of the embryonic body axis by lbx1b overexpression was associated with defects in convergent extension, which is a component of the main axis-elongation machinery in gastrulating embryos. In embryos overexpressing lbx1b, wnt5b, a ligand of the non-canonical Wnt/planar cell polarity (PCP) pathway, was significantly downregulated. Injection of mRNA for wnt5b or RhoA, a key downstream effector of Wnt/PCP signaling, rescued the defective convergent extension phenotype and attenuated the lbx1b-induced curvature of the body axis. Thus, our study presents a novel pathological feature of LBX1 and its zebrafish homologs in body axis deformation at various stages of

  7. Paraneoplastic epilepsy.

    PubMed

    Serafini, Anna; Lukas, Rimas V; VanHaerents, Stephen; Warnke, Peter; Tao, James X; Rose, Sandra; Wu, Shasha

    2016-08-01

    Epilepsy can be a manifestation of paraneoplastic syndromes which are the consequence of an immune reaction to neuronal elements driven by an underlying malignancy affecting other organs and tissues. The antibodies commonly found in paraneoplastic encephalitis can be divided into two main groups depending on the target antigen: 1) antibodies against neuronal cell surface antigens, such as against neurotransmitter (N-methyl-d-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), gamma-aminobutyric acid (GABA)) receptors, ion channels (voltage-gated potassium channel (VGKC)), and channel-complex proteins (leucine rich, glioma inactivated-1 glycoprotein (LGI1) and contactin-associated protein-2 (CASPR2)) and 2) antibodies against intracellular neuronal antigens (Hu/antineuronal nuclear antibody-1 (ANNA-1), Ma2/Ta, glutamate decarboxylase 65 (GAD65), less frequently to CV2/collapsin response mediator protein 5 (CRMP5)). In this review, we provide a comprehensive survey of the current literature on paraneoplastic epilepsy indexed by the associated onconeuronal antibodies. While a range of seizure types can be seen with paraneoplastic syndromes, temporal lobe epilepsy is the most common because of the association with limbic encephalitis. Early treatment of the paraneoplastic syndrome with immune modulation/suppression may prevent the more serious potential consequences of paraneoplastic epilepsy.

  8. Possible relationship between phenylthiocarbamide taste sensitivity and epilepsy.

    PubMed

    Pal, S K; Sharma, K; Pathak, A; Sawhney, I M S; Prabhakar, S

    2004-06-01

    The study was based on the data of a sample of 400 epileptic patients (200 idiopathic and 200 symptomatic) and 100 normal healthy individuals serving as controls. The PTC threshold distribution was bimodal. The number of non-tasters among idiopathic epileptics (35.5%) and symptomatic epileptics (32.5%) was significantly higher than controls (20%). The relative incidence of non-tasters in idiopathic and symptomatic epilepsies was 2.20 and 1.93 respectively. There is evidence that non-tasters tend to ingest a greater quantity of bitter tasting goitrogenic substances present naturally in edible plants which in turn exert greater thyroid stress in non-tasters or less sensitive tasters. Such a stress during intrauterine or early childhood growth and development might have affected neurological maturation which in turn made them more susceptible to epilepsy than tasters, who faced lesser stress.

  9. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

    PubMed

    Hardies, Katia; de Kovel, Carolien G F; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P J; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van 't Slot, Ruben; Nürnberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P C; De Jonghe, Peter

    2015-11-01

    The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the genes associated with the disease entity. Occasionally recessive mutations are identified: a recent publication described a distinct neonatal epileptic encephalopathy (MIM 615905) caused by autosomal recessive mutations in the SLC13A5 gene. Here, we report eight additional patients belonging to four different families with autosomal recessive mutations in SLC13A5. SLC13A5 encodes a high affinity sodium-dependent citrate transporter, which is expressed in the brain. Neurons are considered incapable of de novo synthesis of tricarboxylic acid cycle intermediates; therefore they rely on the uptake of intermediates, such as citrate, to maintain their energy status and neurotransmitter production. The effect of all seven identified mutations (two premature stops and five amino acid substitutions) was studied in vitro, using immunocytochemistry, selective western blot and mass spectrometry. We hereby demonstrate that cells expressing mutant sodium-dependent citrate transporter have a complete loss of citrate uptake due to various cellular loss-of-function mechanisms. In addition, we provide independent proof of the involvement of autosomal recessive SLC13A5 mutations in the development of neonatal epileptic encephalopathies, and highlight teeth hypoplasia as a possible indicator for SLC13A5 screening. All three patients who tried the ketogenic diet responded well to this treatment, and future studies will allow us to ascertain whether this is a recurrent feature in this severe disorder.

  10. Juvenile Idiopathic Arthritis

    MedlinePlus

    ... Is Juvenile Idiopathic Arthritis the same as Juvenile Rheumatoid Arthritis? Yes, Juvenile Idiopathic Arthritis (JIA) is a new ... of chronic inflammatory diseases that affect children. Juvenile Rheumatoid Arthritis (JRA) is the older term that was used ...

  11. Idiopathic cardiomegaly*

    PubMed Central

    1968-01-01

    Cardiomyopathies are certain heart diseases of unknown etiology and pathogenesis, occurring mostly in tropical and subtropical areas, where they constitute a major clinical problem and sometimes a public health problem. The need for international co-operation in the study of such forms of heart disease has long been recognized and WHO convened informal meetings of investigators on various aspects of the subject in 1964, 1965 and 1966. Out of these have arisen co-operative studies co-ordinated by WHO. In November 1967 a fourth informal meeting was held in Kingston, Jamaica, to review the following topics: the progress reports from all co-operating laboratories; the different types of cardiomyopathies; past experience with cardiac registries, and the diagnostic importance of coronary angiography. Steps were taken towards the formulation of a standard terminology, since too many confusing names are currently employed to mean “cardiomegaly of unknown origin”. A common name, “idiopathic cardiomegaly”, was therefore suggested for future use. The account presented here was prepared by Dr Z. Fejfar, Chief Medical Officer, Cardiovascular Diseases, World Health Organization, Geneva, on behalf of the other participants and is a précis of some of the information that was exchanged, some of the views that were expressed and of the suggestions that were made. PMID:4235740

  12. American Epilepsy Society

    MedlinePlus

    ... Epilepsy Society CLINICAL RESOURCES FAQs GUIDELINES IOM EPILEPSY MEDICAL MARIJUANA SUDEP SURGERY DEVICES GENETICS TREATMENTS Drug Alerts and ... RESOURCES Navigation CLINICAL RESOURCES FAQs GUIDELINES IOM EPILEPSY MEDICAL MARIJUANA SUDEP SURGERY DEVICES GENETICS TREATMENTS Drug Alerts and ...

  13. Progressive myoclonic epilepsies

    PubMed Central

    Michelucci, Roberto; Canafoglia, Laura; Striano, Pasquale; Gambardella, Antonio; Magaudda, Adriana; Tinuper, Paolo; La Neve, Angela; Ferlazzo, Edoardo; Gobbi, Giuseppe; Giallonardo, Anna Teresa; Capovilla, Giuseppe; Visani, Elisa; Panzica, Ferruccio; Avanzini, Giuliano; Tassinari, Carlo Alberto; Bianchi, Amedeo; Zara, Federico

    2014-01-01

    Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy. Methods: We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis. Results: We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings. Conclusions: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized. PMID:24384641

  14. Epilepsy and tobacco smoking: a cross-sectional study.

    PubMed

    Torriani, Omar; Vuilleumier, Frédéric; Perneger, Thomas; Despland, Paul-Andre; Maeder, Malin; Héritier-Barras, Anne-Chantal; Vulliemoz, Serge; Seeck, Margitta; Rossetti, Andrea O; Picard, Fabienne

    2016-10-01

    There is little data concerning the prevalence of smoking in the population of people with epilepsy. The present study addresses this aspect in a sample of 429 unselected adults with epilepsy living in French-speaking Switzerland. The criterion of at least one cigarette per day for the past 6 months was used to define the status of "current" smoker. The questionnaires included questions about the type of epilepsy and tobacco consumption and were prospectively filled by attending neurologists in the presence of their patient, ensuring a reliable diagnosis of epilepsy. Data were compared with those of the "Tabakmonitoring" data collection, which gives annually detailed information about tobacco use habits in the Switzerland's population according to the different linguistic regions. Among patients suffering from epilepsy, the prevalence of current smoking was 32.1 % (28.8 % among women and 35 % among men), while the prevalence of smoking was 19.0 % in the general population in French-speaking Switzerland in the same period [OR 2.0, confidence interval (CI) 1.6-2.5, p < 0.001]. The subgroup of patients with epilepsy suffering from idiopathic (genetic) generalized epilepsy had the highest prevalence of smoking: 44.3 versus 27.8 % in the other types of epilepsy-p = 0.03. Epilepsy appears significantly correlated to smoking. The possible causal relationship, such as common genetic susceptibility to epilepsy and to nicotine addiction, indirect comorbidity through stress or depression associated with epilepsy, beneficial effect of nicotine on epilepsy, still remains unclear and deserves further studies.

  15. [Modern aspects of epilepsy treatment].

    PubMed

    Alajbegović, Azra; Kantardzić, Dzelaludin; Suljić, Enra; Alajbegović, Salem

    2003-01-01

    It is a general rule today, after a relevant diagnostics of an epilepsy, to start a monotherapy treatment, depending on a kind of a seizure, a life age and a general health condition. First line of monotherapy epilepsy drugs remain carbamazapine and sodium valproat. New drugs that are being introduced are: felbamat, gabapentin, lamotrigin, oxcarbazepin, tiagabin, topiramat, vigabatin and zanisamid. These are commonly used as add-on therapy, or as an addition for previously used antiepileptic. Their indicated areas are complex resistant partial seizures with or without generalization. Attention should be paid on proper dosage, interactions and toxicity. Regardless on the new epileptic era, according to reports of International League against epilepsy, most of the patients do not receive the drug that is the most appropriate for them concerning the price (cost-benefit). Neurosurgical methods in epilepsy treatment are: selective amygdalo-hyppocampotomy, temporal lobotomy, subpial resection, hemispherectomy, corpus callosotomy, removal of lesions like tumors or cysts provide encouraging results in reduction of epileptic seizures that can be followed by reduction of drug therapy. N. vagus stimulation is being wider introduced in resident epileptics. Treatment of epilepsy in women requires an approach to sexuality, conception, pregnancy, introduction of medicaments, antiepileptic terratogenity, contraception, motherhood and menopause. A special significance of modern approach to epilepsy is in treatment of elderly who have cerebrovascular and neurodegenerative disease as a cause of seizures. A complex treatment of epilepsy using pharmacological and neurosurgical approach requires supportive psychotherapy, socio-therapy, the work with a family, education about epilepsy and living a life with more quality having one.

  16. [Clinical guidelines for epilepsy].

    PubMed

    Tsuji, Sadatoshi

    2014-05-01

    Many international guidelines for epilepsy from the countries in Europe, USA and Asia have been published since the introduction of evidence-based medicine. In Japan, the clinical guidelines for epilepsy management were published by the Japanese Society of Neurology (JSN) in 2002 and 2010. The clinical guideline for epilepsy 2010 primarily targets general practitioners treating epilepsy patients. The Japan Epilepsy Society has been publishing 16 guidelines for several topics since 2005. The clinical guideline for epilepsy 2010 recommends that carbamazepine can be regarded for new onset partial epilepsy and sodium valproate is for new onset generalized epilepsy as anti-epileptic drug (AED) monotherapy. The new AEDs received approval by the Ministry of Health, Labour and Welfare, Japan, mainly in the add-on treatment of adults with partial epilepsy. The clinical guideline for epilepsy 2010 will contribute to improvement in the management of epilepsy in Japan.

  17. Understanding Death in Children With Epilepsy.

    PubMed

    Donner, Elizabeth J; Camfield, Peter; Brooks, Linda; Buchhalter, Jeffrey; Camfield, Carol; Loddenkemper, Tobias; Wirrell, Elaine

    2017-01-31

    Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurologic disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss.

  18. Microsensors and wireless system for monitoring epilepsy

    NASA Astrophysics Data System (ADS)

    Whitchurch, Ashwin K.; Ashok, B. H.; Kumaar, Raman V.; Sarukesi, K.; Jose, K. A.; Varadan, Vijay K.

    2003-07-01

    Epilepsy is a form of brain disorder caused by abnormal discharges of neurons. The most common manifestations of epilepsy are seizures which could affect visual, aural and motor abilities of a person. Absence epilepsy is a form of epilepsy common mostly in children. The most common manifestations of absence epilepsy are staring and transient loss of responsiveness. Also, subtle motor activities may occur. Due to the subtle nature of these symptoms, episodes of absence epilepsy may often go unrecognized for long periods of time or be mistakenly attributed to attention deficit disorder or daydreaming. Spells of absence epilepsy may last about 10 seconds and occur hundreds of times each day. Patients have no recollections of the events occurred during those seizures and will resume normal activity without any postictal symptoms. The EEG during such episodes of Absence epilepsy shows intermittent activity of 3 Hz generalized spike and wave complexes. As EEG is the only way of detecting such symptoms, it is required to monitor the EEG of the patient for a long time, usually the whole day. This requires that the patient be connected to the EEG recorder all the time and thus remain only in the bed. So, effectively the EEG is being monitored only when the patient is stationary. The wireless monitoring system described in this paper aims at eliminating this constraint and enables the physician to monitor the EEG when the patient resumes his normal activities. This approach could even help the doctor identify possible triggers of absence epilepsy.

  19. Public awareness, understanding & attitudes toward epilepsy.

    PubMed

    Gambhir, S K; Kumar, V; Singhi, P D; Goel, R C

    1995-07-01

    The public awareness, understanding and attitudes towards epilepsy were evaluated in a north Indian population in 1992 by personal interview method. The study revealed that 92 per cent of the respondents had read or heard about epilepsy. More than 55 per cent knew someone and had seen a case of seizure. Eighty five per cent of the respondents were not aware of the cause of epilepsy or had wrong beliefs. Eighteen and 15 per cent thought epilepsy to be a hereditary disorder and a form of insanity respectively. About 40 per cent of the respondents felt that children with epilepsy should not be sent to school and also objected to their children's contact with epileptics at school or at play. Two-thirds of the respondents objected to their children marrying a person who had ever had epilepsy. Twenty per cent were ignorant about the manifestation of epilepsy and an equal number were unable to recommend any therapy in case their relatives or friends had epilepsy. Fifty seven per cent did not know what kind of first aid should be given during the epileptic attack. Although the awareness of epilepsy among Indian people was comparable to that of individuals in Western countries, the attitudes of the Indians were much more negative. Better educated people belonging to higher occupational groups were less prejudiced against social contact and schooling of their children with epileptic children compared to low educational and occupational groups.

  20. Spotlight on levetiracetam in epilepsy.

    PubMed

    Lyseng-Williamson, Katherine A

    2011-10-01

    Levetiracetam (Keppra®, E Keppra®) is an established second-generation antiepileptic drug (AED). Worldwide, levetiracetam is most commonly approved as adjunctive treatment of partial-onset seizures with or without secondary generalization; other approved indications include monotherapy treatment of partial-onset seizures with or without secondary generalization, and adjunctive treatment of myoclonic seizures associated with juvenile myoclonic epilepsy and primary generalized tonic-clonic (GTC) seizures associated with idiopathic generalized epilepsy. Levetiracetam has a novel structure and unique mechanisms of action. Unlike other AEDs, the mechanisms of action of levetiracetam appear to involve neuronal binding to synaptic vesicle protein 2A, inhibiting calcium release from intraneuronal stores, opposing the activity of negative modulators of GABA- and glycin-gated currents and inhibiting excessive synchronized activity between neurons. In addition, levetiracetam inhibits N-type calcium channels. Levetiracetam is associated with rapid and complete absorption, high oral bioavailability, minimal metabolism that consists of hydrolysis of the acetamide group and primarily renal elimination. It lacks cytochrome P450 isoenzyme-inducing potential and is not associated with clinically significant pharmacokinetic interactions with other drugs, including other AEDs. The efficacy of oral immediate-release levetiracetam in controlling seizures has been established in numerous randomized, double-blind, controlled, multicentre trials in patients with epilepsy. Adjunctive levetiracetam reduced the frequency of seizures in paediatric and adult patients with refractory partial-onset seizures to a significantly greater extent than placebo. Monotherapy with levetiracetam was noninferior to that with carbamazepine controlled release in controlling seizures in patients with newly diagnosed partial-onset seizures. Levetiracetam also provided seizure control relative to placebo as

  1. A pediatric case of idiopathic Harlequin syndrome

    PubMed Central

    Kim, Ju Young; Lee, Moon Souk; Kim, Seung Yeon; Kim, Hyun Jung; Lee, Soo Jin; You, Chur Woo; Kim, Jon Soo

    2016-01-01

    Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome remains unclear. Here, we describe a case of a 6-year-old boy who reported left hemifacial flushing and sweating after exercise. He had an unremarkable birth history and no significant medical history. Complete ophthalmological and neurological examinations were performed, and no other abnormalities were identified. Magnetic resonance imaging was performed to exclude lesions of the cerebrum and cervicothoracic spinal cord, and no abnormalities were noted. His final diagnosis was classic idiopathic harlequin syndrome. Herein, we report the first pediatric case of idiopathic harlequin syndrome in Korea. PMID:28018464

  2. The heart of epilepsy: Current views and future concepts.

    PubMed

    Shmuely, S; van der Lende, M; Lamberts, R J; Sander, J W; Thijs, R D

    2017-01-01

    Cardiovascular (CV) comorbidities are common in people with epilepsy. Several mechanisms explain why these conditions tend to co-exist including causal associations, shared risk factors and those resulting from epilepsy or its treatment. Various arrhythmias occurring during and after seizures have been described. Ictal asystole is the most common cause. The converse phenomenon, arrhythmias causing seizures, appears extremely rare and has only been reported in children following cardioinihibitory syncope. Arrhythmias in epilepsy may not only result from seizure activity but also from a shared genetic susceptibility. Various cardiac and epilepsy genes could be implicated but firm evidence is still lacking. Several antiepileptic drugs (AEDs) triggering conduction abnormalities can also explain the co-existence of arrhythmias in epilepsy. Epidemiological studies have consistently shown that people with epilepsy have a higher prevalence of structural cardiac disease and a poorer CV risk profile than those without epilepsy. Shared CV risk factors, genetics and etiological factors can account for a significant part of the relationship between epilepsy and structural cardiac disease. Seizure activity may cause transient myocardial ischaemia and the Takotsubo syndrome. Additionally, certain AEDs may themselves negatively affect CV risk profile in epilepsy. Here we discuss the fascinating borderland of epilepsy and cardiovascular conditions. The review focuses on epidemiology, clinical presentations and possible mechanisms for shared pathophysiology. It concludes with a discussion of future developments and a call for validated screening instruments and guidelines aiding the early identification and treatment of CV comorbidity in epilepsy.

  3. Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

    PubMed Central

    Matsushita, Yuki; Sakai, Yasunari; Shimmura, Mitsunori; Shigeto, Hiroshi; Nishio, Miki; Akamine, Satoshi; Sanefuji, Masafumi; Ishizaki, Yoshito; Torisu, Hiroyuki; Nakabeppu, Yusaku; Suzuki, Akira; Takada, Hidetoshi; Hara, Toshiro

    2016-01-01

    Epilepsy is a frequent comorbidity in patients with focal cortical dysplasia (FCD). Recent studies utilizing massive sequencing data identified subsets of genes that are associated with epilepsy and FCD. AKT and mTOR-related signals have been recently implicated in the pathogenic processes of epilepsy and FCD. To clarify the functional roles of the AKT-mTOR pathway in the hippocampal neurons, we generated conditional knockout mice harboring the deletion of Pten (Pten-cKO) in Proopiomelanocortin-expressing neurons. The Pten-cKO mice developed normally until 8 weeks of age, then presented generalized seizures at 8–10 weeks of age. Video-monitored electroencephalograms detected paroxysmal discharges emerging from the cerebral cortex and hippocampus. These mice showed progressive hypertrophy of the dentate gyrus (DG) with increased expressions of excitatory synaptic markers (Psd95, Shank3 and Homer). In contrast, the expression of inhibitory neurons (Gad67) was decreased at 6–8 weeks of age. Immunofluorescence studies revealed the abnormal sprouting of mossy fibers in the DG of the Pten-cKO mice prior to the onset of seizures. The treatment of these mice with an mTOR inhibitor rapamycin successfully prevented the development of seizures and reversed these molecular phenotypes. These data indicate that the mTOR pathway regulates hippocampal excitability in the postnatal brain. PMID:26961412

  4. Obtaining genetic testing in pediatric epilepsy.

    PubMed

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.

  5. Epilepsy and music: practical notes.

    PubMed

    Maguire, M

    2017-04-01

    Music processing occurs via a complex network of activity far beyond the auditory cortices. This network may become sensitised to music or may be recruited as part of a temporal lobe seizure, manifesting as either musicogenic epilepsy or ictal musical phenomena. The idea that sound waves may directly affect brain waves has led researchers to explore music as therapy for epilepsy. There is limited and low quality evidence of an antiepileptic effect with the Mozart Sonata K.448. We do not have a pathophysiological explanation for the apparent dichotomous effect of music on seizures. However, clinicians should consider musicality when treating patients with antiepileptic medication or preparing patients for epilepsy surgery. Carbamazepine and oxcarbazepine each may cause a reversible altered appreciation of pitch. Surgical cohort studies suggest that musical memory and perception may be affected, particularly following right temporal lobe surgery, and discussion of this risk should form part of presurgical counselling.

  6. Stem cell therapy for treatment of epilepsy.

    PubMed

    Goodarzi, Parisa; Aghayan, Hamid Reza; Soleimani, Masoud; Norouzi-Javidan, Abbas; Mohamadi-Jahani, Fereshteh; Jahangiri, Sharareh; Emami-Razavi, Seyed Hasan; Larijani, Bagher; Arjmand, Babak

    2014-01-01

    Epilepsy as one of the most common neurological disorders affects more than 50 million people worldwide with a higher prevalence rate in low-income countries. Excessive electrical discharges in neurons following neural cell damage or loss cause recurrent seizures. One of the most common and difficult to treat types of epilepsy is temporal lobe epilepsy (TLE) which results from hippocampal sclerosis. Nowadays, similar to other diseases, epilepsy also is a candidate for treatment with different types of stem cells. Various stem cell types were used for treatment of epilepsy in basic and experimental researches. Two major roles of stem cell therapy in epilepsy are prophylaxis against chronic epilepsy and amelioration cognitive function after the occurrence of TLE. Several animal studies have supported the use of these cells for treating drug-resistant TLE. Although stem cell therapy seems like a promising approach for treatment of epilepsy in the future however, there are some serious safety and ethical concerns that are needed to be eliminated before clinical application.

  7. [Idiopathic facial paralysis].

    PubMed

    Wolf, S R

    1998-09-01

    Although acute idiopathic facial paresis is often labelled "Bell's palsy", historical studies show that Nicolaus Anton Friedreich (1761-1836) from Würzburg was the first physician to describe the typical symptoms of the disorder in 1797, approximately 24 years prior to the paper published by Sir Charles Bell. Diagnostics has now improved to the extent that acute idiopathic facial palsy can more frequently be assigned to etiologies caused by inflammatory disorders. Herpes simplex virus type I and Borrelia burgdorferi are particularly relevant. Underestimation of the degree of paresis is, particularly in children, a drawback of the clinical examination. "Incomplete eyelid closure" is not a reliable indicator of remaining nerve function. For this reason complete electromyography (EMG) is recommended in all cases of severe facial paresis. Since electroneurography does not reliably reflect the degree of denervation present, needle EMG is preferred. The therapy of the facial palsy of unclear etiology is still not well defined. Nevertheless, we recommend that a combined treatment should be used early, at least in patients with disfiguring pareses. Combinations may consist of cortisone, virostatic agents and hemorrheologic substances and possibly antibiotics. Surgical decompression of the facial nerve remains controversial, since positive surgical results lack statistical support. Individual instructions for facial exercises, massage and muscle relaxation can support rehabilitation and possibly reduce the production of pathological synkinesia. Electrical stimulation should not be used. There are a number of possibilities available to reduce the effects of misdirected reinnervation, especially the use of botulinum-A-toxin. However, intensive diagnosis and therapy in the early phase of paresis are decisive in obtaining a favorable outcome. Further refinements in rehabilitation and comparative multicenter controlled studies are still required for future improvements in

  8. Video game epilepsy.

    PubMed

    Singh, R; Bhalla, A; Lehl, S S; Sachdev, A

    2001-12-01

    Reflex epilepsy is the commonest form of epilepsy in which seizures are provoked by specific external stimulus. Photosensitive reflex epilepsy is provoked by environmental flicker stimuli. Video game epilepsy is considered to be its variant or a pattern sensitive epilepsy. The mean age of onset is around puberty and boys suffer more commonly as they are more inclined to play video games. Television set or computer screen is the commonest precipitants. The treatment remains the removal of the offending stimulus along with drug therapy. Long term prognosis in these patients is better as photosensitivity gradually declines with increasing age. We present two such case of epilepsy induced by video game.

  9. Childhood epilepsy and sleep

    PubMed Central

    Al-Biltagi, Mohammed A

    2014-01-01

    Sleep and epilepsy are two well recognized conditions that interact with each other in a complex bi-directional way. Some types of epilepsies have increased activity during sleep disturbing it; while sleep deprivation aggravates epilepsy due to decreased seizure threshold. Epilepsy can deteriorate the sleep-related disorders and at the same time; the parasomnias can worsen the epilepsy. The secretion of sleep-related hormones can also be affected by the occurrence of seizures and supplementation of epileptic patients with some of these sleep-related hormones may have a beneficial role in controlling epilepsy. PMID:25254184

  10. Idiopathic pulmonary fibrosis: evolving concepts.

    PubMed

    Ryu, Jay H; Moua, Teng; Daniels, Craig E; Hartman, Thomas E; Yi, Eunhee S; Utz, James P; Limper, Andrew H

    2014-08-01

    Idiopathic pulmonary fibrosis (IPF) occurs predominantly in middle-aged and older adults and accounts for 20% to 30% of interstitial lung diseases. It is usually progressive, resulting in respiratory failure and death. Diagnostic criteria for IPF have evolved over the years, and IPF is currently defined as a disease characterized by the histopathologic pattern of usual interstitial pneumonia occurring in the absence of an identifiable cause of lung injury. Understanding of the pathogenesis of IPF has shifted away from chronic inflammation and toward dysregulated fibroproliferative repair in response to alveolar epithelial injury. Idiopathic pulmonary fibrosis is likely a heterogeneous disorder caused by various interactions between genetic components and environmental exposures. High-resolution computed tomography can be diagnostic in the presence of typical findings such as bilateral reticular opacities associated with traction bronchiectasis/bronchiolectasis in a predominantly basal and subpleural distribution, along with subpleural honeycombing. In other circumstances, a surgical lung biopsy may be needed. The clinical course of IPF can be unpredictable and may be punctuated by acute deteriorations (acute exacerbation). Although progress continues in unraveling the mechanisms of IPF, effective therapy has remained elusive. Thus, clinicians and patients need to reach informed decisions regarding management options including lung transplant. The findings in this review were based on a literature search of PubMed using the search terms idiopathic pulmonary fibrosis and usual interstitial pneumonia, limited to human studies in the English language published from January 1, 2000, through December 31, 2013, and supplemented by key references published before the year 2000.

  11. Nonsurgical management of idiopathic clubfoot.

    PubMed

    Noonan, Kenneth J; Richards, B Stephens

    2003-01-01

    Because nonsurgical management was thought not to yield adequate correction and a durable result, most children with idiopathic clubfoot have undergone surgery with extensive posteromedial and lateral release. However, surgical management caused residual deformity, stiffness, and pain in some children; thus, the favorable long-term results with the Ponseti and French methods of nonsurgical management have garnered interest. The Ponseti method consists of manipulation and casting of idiopathic clubfeet; the French method consists of physiotherapy, taping, and continuous passive motion. Careful evaluation of the techniques and results of these two approaches may increase their use and decrease or minimize the use of surgical management and thus the associated morbidity resulting from extensile releases.

  12. Acquired Idiopathic Generalized Anhidrosis.

    PubMed

    Gangadharan, Geethu; Criton, Sebastian; Surendran, Divya

    2015-01-01

    Acquired idiopathic generalized anhidrosis is a rare condition, where the exact pathomechanism is unknown. We report a case of acquired idiopathic generalized anhidrosis in a patient who later developed lichen planus. Here an autoimmune-mediated destruction of sweat glands may be the probable pathomechanism.

  13. [Eponyms and epilepsy (history of Eastern civilizations)].

    PubMed

    Janković, S M; Sokić, D V; Lević, Z M; Susić, V; Drulović, J; Stojsavljević, N; Veskov, R; Ivanus, J

    1996-01-01

    considered as life threatening events. Persian history of epilepsy, except from the 6th century Zoroastrian "Avesta" document, lacks the written or spoken medical heritage untill the 7th century A.D. and the Arabic conquest of the entire Moslem world. On the other hand, Islamic medicine should be freed from the simple prejudice that the Moslem authors were only the translators of Greek medicine; contrary to such a view, their work contains a high degree of individuality. Although Mohammed introduced a lot of novelty into medicine, Khoran and the Sayings do not explicitly refer to epilepsy. Of importance is to notice that Moslem medicine did not have demons in the "repertoire" of direct causes of epilepsy. The causes and the cures of epilepsy were more magic-mystical and occult in nature, which is reminiscent of the European, as well as Serbian Middle age attitudes. Avicenna recognized difference between children and adult epilepsy. He considered insomnia and afternoon siesta as well as intensive sounds and light to be a provocative factors, whereby we see that at least empirically he knew of sleep (deprivation), startle and reflex epilepsy. The XIII century invasion of Mongols brought about the recession in Moslem Medicine; it recovered only in the XVIII century under the strong influence of European medicine handed over to us through Jewish doctors of various nationalities. The story of the China history of epilepsy has its debut approximately in the 8th century B. C. Medical texts from this period name epilepsy "Dian" and "Xian" which meant "the falling sickness" and "convulsions", respectively. Chinese medical terminology often interchangeably used the words "mania", "madness" and "psychosis" for "epilepsy" which, aside from a prominent language barrier, brings additional confusion. Although Chinese documents gave the first description of the grand mal epileptic attack already in the 8th century B. C. (ABSTRACT TRUNCATED)

  14. Recognizing and preventing epilepsy-related mortality: A call for action.

    PubMed

    Devinsky, Orrin; Spruill, Tanya; Thurman, David; Friedman, Daniel

    2016-02-23

    Epilepsy is associated with a high rate of premature mortality from direct and indirect effects of seizures, epilepsy, and antiseizure therapies. Sudden unexpected death in epilepsy (SUDEP) is the second leading neurologic cause of total lost potential life-years after stroke, yet SUDEP may account for less than half of all epilepsy-related deaths. Some epilepsy groups are especially vulnerable: individuals from low socioeconomic status groups and those with comorbid psychiatric illness die more often than controls. Despite clear evidence of an important public health problem, efforts to assess and prevent epilepsy-related deaths remain inadequate. We discuss factors contributing to the underestimation of SUDEP and other epilepsy-related causes of death. We suggest the need for a systematic classification of deaths directly due to epilepsy (e.g., SUDEP, drowning), due to acute symptomatic seizures, and indirectly due to epilepsy (e.g., suicide, chronic effects of antiseizure medications). Accurately estimating the frequency of epilepsy-related mortality is essential to support the development and assessment of preventive interventions. We propose that educational interventions and public health campaigns targeting medication adherence, psychiatric comorbidity, and other modifiable risk factors may reduce epilepsy-related mortality. Educational campaigns regarding sudden infant death syndrome and fires, which kill far fewer Americans than epilepsy, have been widely implemented. We have done too little to prevent epilepsy-related deaths. Everyone with epilepsy and everyone who treats people with epilepsy need to know that controlling seizures will save lives.

  15. Intellectual Disability and Epilepsy in Down Syndrome

    PubMed Central

    BARCA, Diana; TARTA-ARSENE, Oana; DICA, Alice; ILIESCU, Catrinel; BUDISTEANU, Magdalena; MOTOESCU, Cristina; BUTOIANU, Niculina; CRAIU, Dana

    2014-01-01

    Down Syndrome (DS) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). There is a paucity of data in the literature regarding epilepsy in Down syndrome and its relation to intellectual disability. Objectives: The purpose of this article is to analyze the association of epilepsy in children with DS - frequency and type of seizures, treatment, outcome and to compare cognitive impairment of children with DS and epilepsy and DS without epilepsy from our cohort. Methods: A four years systematic retrospective analysis of the database of the Pediatric Neurology Clinic (January 2010 - December 2013) identified a cohort of 39 pediatric cases with DS and neurological symptoms, 9 of them (23%) associating epileptic seizures. Following data were analysed: clinical and neurological examination, type/s of seizures, electroencephalography (EEG), cerebral magnetic resonance imaging (MRI), psychological examination, psychiatric evaluation in selected cases, electrocardiography (ECG), cardiac ultrasonography, ophthalmologic examination. Results: 23% (9 patients) of the children with DS of our cohort presented epilepsy. Five patients had epileptic spasms (56%), one of these further developed astatic seizures. Focal seizures were observed in three patients (33%) and absence with eyelid myoclonias in one patient (11%). Two of the nine patients with DS and epilepsy had generalized seizures, both with very good response to levetiracetam (LEV). EEG was abnormal at seizure onset, and was improved after treatment. Of the nine children with DS and epilepsy, two (22%) presented mild mental retardation and seven (78%) had moderate to severe cognitive delay. Of the 30 children with DS and without epilepsy, 21 (70%) had mild mental retardation and 9 (30%) had moderate to severe cognitive impairment. Conclusions: The most frequent epileptic syndrome associated with DS is West syndrome, with good response to specific antiepileptics

  16. Surgery for childhood epilepsy

    PubMed Central

    Jayalakshmi, Sita; Panigrahi, Manas; Nanda, Subrat Kumar; Vadapalli, Rammohan

    2014-01-01

    Approximately 60% of all patients with epilepsy suffer from focal epilepsy syndromes. In about 15% of these patients, the seizures are not adequately controlled with antiepileptic drugs; such patients are potential candidates for surgical treatment and the major proportion is in the pediatric group (18 years old or less). Epilepsy surgery in children who have been carefully chosen can result in either seizure freedom or a marked (>90%) reduction in seizures in approximately two-thirds of children with intractable seizures. Advances in structural and functional neuroimaging, neurosurgery, and neuroanaesthesia have improved the outcomes of surgery for children with intractable epilepsy. Early surgery improves the quality of life and cognitive and developmental outcome and allows the child to lead a normal life. Surgically remediable epilepsies should be identified early and include temporal lobe epilepsy with hippocampal sclerosis, lesional temporal and extratemporal epilepsy, hemispherical epilepsy, and gelastic epilepsy with hypothalamic hamartoma. These syndromes have both acquired and congenital etiologies and can be treated by resective or disconnective surgery. Palliative procedures are performed in children with diffuse and multifocal epilepsies who are not candidates for resective surgery. The palliative procedures include corpus callosotomy and vagal nerve stimulation while deep brain stimulation in epilepsy is still under evaluation. For children with “surgically remediable epilepsy,” surgery should be offered as a procedure of choice rather than as a treatment of last resort. PMID:24791093

  17. Pulmonary lesion of idiopathic plasmacytic lymphadenopathy with polyclonal hyperimmunoglobulinemia appears to be a cause of lymphoplasmacytic proliferation of the lung: a report of five cases.

    PubMed

    Kojima, Masaru; Nakamura, Naoya; Otuski, Yoshiro; Itoh, Hideaki; Ogawa, Yoshiyuki; Kobayashi, Hiroshi; Nakamura, Shigeo

    2008-01-01

    We report on pulmonary lesions seen in five cases of idiopathic plasmacytic lymphadenopathy with polyclonal hyperimmunoglobulinemia (IPL). This group of five patients consisted of two Japanese men (age: 33 and 45 years), and three Japanese women (age: 25, 43, and 48 years). All five cases were detected incidentally on routine chest X-rays, and had multiple small nodular lesions in the bilateral lungs. These pulmonary lesions were the initial clinical presentation of IPL in three cases in which, at the onset of disease, no lymphadenopathy was detected. At the disease onset, all five cases showed prominent IPL. In three cases examined, serum interleukin-6 was elevated, and anti-human immunodeficiency type-1 antibody was negative in three cases. Clinically, autoimmune disease was suspected for all five cases, and the various autoantibodies were investigated. Although anti-Scl 70 antibody was positive in one case, this patient had no symptoms of systemic sclerosis. Pathologically, all five lesions were characterized by well-demarcated masses that consisted of abundant reactive germinal centers and a dense lymphoplasmacytic infiltrate in the interfollicular area with a variable degree of interfollicular fibrosis. The immunohistochemical study and polymerase chain reaction demonstrated the polytypic nature of the plasma cells and B-cells. IPL is rare in lymphoproliferative disorders. However, pulmonary involvement may frequently occur in IPL patients. Moreover, pulmonary involvement seems to represent the initial clinical manifestation of IPL. Therapeutically, it is important to discriminate between pulmonary involvement of IPL and pulmonary benign or malignant pulmonary lymphoplasmacytic proliferation, particularly marginal zone B-cell lymphoma of the mucosa-associated lymphoid tissue type.

  18. [Social and cultural representations in epilepsy awareness].

    PubMed

    Arborio, Sophie

    2015-01-01

    Representations relating to epilepsy have evolved over the centuries, but the manifestations of epilepsy awaken archaic images linked to death, violence and disgust. Indeed, the generalised epileptic seizure symbolises a rupture with the surrounding environment, "informs it", through the loss of social codes which it causes. The social and cultural context, as well as medical knowledge, influences the representations of the disease. As a result, popular knowledge is founded on the social and cultural representations of a given era, in a given society.

  19. Quality of Life and Fitness in Children and Adolescents with Epilepsy (EpiFit).

    PubMed

    Rauchenzauner, Markus; Hagn, Claudia; Walch, Romana; Baumann, Matthias; Haberlandt, Edda; Frühwirth, Martin; Rostasy, Kevin

    2017-03-16

    Objective The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group (n = 48) and (2) the healthy control group (n = 59). Results HRQoL of children with focal epilepsy was greater when compared with healthy children and children with generalized epilepsy. A significant association could be demonstrated for the 6-minute walk distance and mental wellbeing in children with epilepsy but not in healthy children. Furthermore, a negative correlation between the HRQoL and the amount of time spent in front of TV and computer in children with epilepsy and healthy children was seen. In children with focal epilepsy, a significant negative correlation could be shown between school sport and mental wellbeing as well as between school sport and self-esteem. Conclusion HRQoL in children with idiopathic epilepsy is significantly associated with physical fitness and might be positively influenced by an adequate education of patients and parents, a reduction of consumption of computer and TV in combination with age- and disease-adapted physical activity and sports.

  20. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    PubMed Central

    Møller, Rikke S.; Larsen, Line H.G.; Johannesen, Katrine M.; Talvik, Inga; Talvik, Tiina; Vaher, Ulvi; Miranda, Maria J.; Farooq, Muhammad; Nielsen, Jens E.K.; Svendsen, Lene Lavard; Kjelgaard, Ditte B.; Linnet, Karen M.; Hao, Qin; Uldall, Peter; Frangu, Mimoza; Tommerup, Niels; Baig, Shahid M.; Abdullah, Uzma; Born, Alfred P.; Gellert, Pia; Nikanorova, Marina; Olofsson, Kern; Jepsen, Birgit; Marjanovic, Dragan; Al-Zehhawi, Lana I.K.; Peñalva, Sofia J.; Krag-Olsen, Bente; Brusgaard, Klaus; Hjalgrim, Helle; Rubboli, Guido; Pal, Deb K.; Dahl, Hans A.

    2016-01-01

    In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes including SCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2, and STX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs. PMID:27781031

  1. The Lombrosian prejudice in medicine. The case of epilepsy. Epileptic psychosis. Epilepsy and aggressiveness.

    PubMed

    Granieri, Enrico; Fazio, Patrik

    2012-02-01

    In the nineteenth century, epilepsy became subject of experimental research. Lombroso established a relationship between epilepsy and criminality believing in the existence of epileptoid traits and atavism. He tried to demonstrate the common origin of epilepsy, criminality, and genius; factors deteriorating the CNS would act upon centers, which control behavior and ethics. This impairment would cause a lack of control on the lower nervous centers, reducing restraints of instincts and criminal behavior. He described developmental frontal cortex lesions in epileptic patients (today Taylor's dysplasia) and these observations supported the erroneous conviction of a relationship between criminality and epilepsy. Neurological, behavioral, and criminological sciences analyzed Lombroso's doctrine, whereas it was controversial that epileptic patients should be prone to violent actions and aggressive behavior. Today, there is an international panel of experts on epilepsy, which suggests five relevant criteria to determine if a crime committed with aggressiveness could result from epileptic seizures.

  2. In vivo experimental models of epilepsy.

    PubMed

    Rubio, Carmen; Rubio-Osornio, Moises; Retana-Márquez, Socorro; Verónica Custodio, Marisol López; Paz, Carlos

    2010-12-01

    This study reviews the different in vivo experimental models that have been used for the study of epileptogenesis. In this review we will focus on how to replicate the different models that have led to the study of partial seizures, as well as generalized seizures and the status epilepticus. The main characteristics that participate in the processes that generate and modulate the manifestations of different models of epileptogenesis are described. The development of several models of experimental epilepsy in animals has clearly helped the study of specific brain areas capable of causing convulsions. The experimental models of epilepsy also have helped in the study the mechanisms and actions of epilepsy drugs. In order to develop experimental animal models of epilepsy, animals are generally chosen according to the kind of epilepsy that can be developed and studied. It is currently known that animal species can have epileptic seizures similar to those in humans. However, it is important to keep in mind that it has not been possible to entirely evaluate all manifestations of human epilepsy. Notwithstanding, these experimental models of epilepsy have allowed a partial understanding of most of the underlying mechanisms of this disease.

  3. [Epilepsy care network].

    PubMed

    Otsuki, Taisuke

    2014-05-01

    Build-up of community health coalition system is now an essential part of medicine. However, little attention has been paid to epilepsy care in Japan, which resulted in a chaotic and difficult situation to find epilepsy-care physicians in the community. The reason is that responsible medical specialty in charge has been ambiguous historically in Japan and a lack of post-in-charge in the government to plan epilepsy care system is aggravating this condition. To solve this issue, epilepsy care network connecting the primary, secondary and tertiary epilepsy care physicians should be established and open to the community. In this context, our Epilepsy Care Network-Japan was started on July 2012 proposing a new epilepsy care algorithm suitable for our complex medical community.

  4. Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

    PubMed

    Allen, Nicholas M; Conroy, Judith; Deonna, Thierry; McCreary, Dara; McGettigan, Paul; Madigan, Cathy; Carter, Imogen; Ennis, Sean; Lynch, Sally A; Shahwan, Amre; King, Mary D

    2016-01-01

    Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy. Furthermore, the molecular inheritance pattern for ABPE and the wider spectrum of epilepsy aphasia disorders have yet to be fully elucidated. We describe the phenotype-genotype study of a boy with ABPE with follow-up from ages 5 to 13 years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent.

  5. [Bilateral idiopathic granulomatous orchitis].

    PubMed

    Peyrí Rey, E; Riverola Manzanilla, A; Cañas Tello, M A

    2008-04-01

    A rare case of asymtomatic synchronous bilateral granulomatous orchitis idiopathic is decribed. In the scrotal ultrasonography are multiple hypoecoic areas, differential diagnosis between testicular tumor and granulomatous orchitis is very difficult in any examination by histological findings.

  6. Idiopathic Pulmonary Fibrosis

    MedlinePlus

    ... the NHLBI on Twitter. What Is Idiopathic Pulmonary Fibrosis? Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a ... time. The formation of scar tissue is called fibrosis. As the lung tissue thickens, your lungs can' ...

  7. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  8. CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.

    PubMed

    Liu, J; Gao, C; Chen, W; Ma, W; Li, X; Shi, Y; Zhang, H; Zhang, L; Long, Y; Xu, H; Guo, X; Deng, S; Yan, X; Yu, D; Pan, G; Chen, Y; Lai, L; Liao, W; Li, Z

    2016-01-05

    Mutations in SCN1A, the gene encoding the α subunit of Nav1.1 channel, can cause epilepsies with wide ranges of clinical phenotypes, which are associated with the contrasting effects of channel loss-of-function or gain-of-function. In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy caused by SCN1A loss-of-function mutation. By fluorescently labeling GABAergic subtype in iPSC-derived neurons using CRISPR/Cas9, we for the first time performed electrophysiological studies on SCN1A-expressing neural subtype and monitored the postsynaptic activity of both inhibitory and excitatory types. We found that the mutation c.A5768G, which led to no current of Nav1.1 in exogenously transfected system, influenced the properties of not only Nav current amount, but also Nav activation in Nav1.1-expressing GABAergic neurons. The two alterations in Nav further reduced the amplitudes and enhanced the thresholds of action potential in patient-derived GABAergic neurons, and led to weakened spontaneous inhibitory postsynaptic currents (sIPSCs) in the patient-derived neuronal network. Although the spontaneous excitatory postsynaptic currents (sEPSCs) did not change significantly, when the frequencies of both sIPSCs and sEPSCs were further analyzed, we found the whole postsynaptic activity transferred from the inhibition-dominated state to excitation in patient-derived neuronal networks, suggesting that changes in sIPSCs alone were sufficient to significantly reverse the excitatory level of spontaneous postsynaptic activity. In summary, our findings fill the gap of our knowledge regarding the relationship between SCN1A mutation effect recorded on exogenously transfected cells and on Nav1.1-expressing neurons, and reveal the physiological basis underlying epileptogenesis caused by SCN1A loss-of-function mutation.

  9. Education of a child neurologist: epilepsy and electroencephalography.

    PubMed

    Morse, Richard P; Holmes, Gregory L

    2011-06-01

    Epilepsy is one of the most common disorders encountered in pediatric neurology. A well-trained child neurologist should have an understanding of the neurobiological causes of seizures, classification of seizures and epilepsy, etiologic evaluation, and treatment of both seizures and associated comorbid conditions. Electroencephalography (EEG) is an important diagnostic test in epilepsy, and child neurologists should be knowledgeable in the physiological basis of EEG and how to identify normal and abnormal patterns in neonates and children.

  10. Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy.

    PubMed

    Serrano-Munuera, C; Rojas-García, R; Gallardo, E; De Luna, N; Buenaventura, I; Ferrero, M; García, T; García-Merino, J A; González-Rodríguez, C; Guerriero, A; Marco, M; Márquez, C; Grau, J M; Graus, F; Illa, I

    2002-11-01

    Antidisialosyl antibodies were found in two out of 13 patients with chronic idiopathic ataxic neuropathy (CIAN) and not in 32 patients with different sensory neuropathies of known cause. This finding confirms the association of antidisialosyl antibodies and CIAN regardless of the absence of the M band. These antibodies may have pathogenic relevance; however, larger series are needed to establish their clinical significance.

  11. [Idiopathic pulmonary hemosiderosis with dendriform pulmonary ossification].

    PubMed

    Barrera, Ana Madeleine; Vargas, Leslie

    2016-12-01

    Pulmonary ossification is a rare and usually asymptomatic finding reported as incidental in lung biopsies. Similarly, idiopathic pulmonary hemosiderosis is a rare cause of pulmonary infiltrates. We report the case of a 64-year old man with chronic respiratory symptoms in whom these two histopathological findings converged.

  12. Sialosis, Gout Induced or Idiopathic? Case Report.

    PubMed

    Naik, Keyur; Mandel, Louis

    2017-02-01

    Sialosis is observed in relation to diabetes, alcoholism, and malnutrition. An assumed relation between gout and sialosis is probably based on confusion that originated from the therapeutic use of phenylbutazone for gout and the sialadenitis that the medication caused. This report describes a case of sialosis in a patient with a longstanding history of gout that was idiopathic in origin.

  13. Genetics of the epilepsies: where are we and where are we going?

    PubMed Central

    Helbig, Ingo; Lowenstein, Daniel H.

    2013-01-01

    Purpose of the review We aim to review the most recent advances in the field of epilepsy genetics with particular focus on the progress in gene discovery in monogenic epilepsies, identification of risk genes in complex genetic epilepsies and recent findings in the field of epilepsy pharmacogenomics. Recent findings During the last 12 months, the use of massive parallel sequencing technologies has allowed for the discovery of several genes for monogenic epilepsies. Most importantly, PRRT2 was identified as the long-sought gene for Benign Familial Infantile Seizures (BFIS). Mutations in KCNT1 were found in two seemingly unrelated monogenic epilepsies including Malignant Migrating Partial Seizures of Infancy (MMPSI) and severe Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). A genome-wide association study in Idiopathic Generalized Epilepsy (IGE) revealed the first common risk variants for human seizure disorders including variants in VRK2, PNPO and SCN1A. Furthermore, a landmark study provided evidence that screening for the HLAB*1502 variant may prevent carbamazepine-induced side effects in the Taiwanese population. Also, HLA-A*3101 variants were identified as a risk factor for carbamazepine side effects in Europeans. Summary Novel technologies and an unprecedented level of international collaboration has resulted in novel genes for monogenic and complex genetic epilepsies as well as risk factors for side effects of antiepileptic drugs. This review provides an overview of the most relevant studies in the last year and highlights the future direction of the field. PMID:23429546

  14. Autism and epilepsy

    PubMed Central

    Larsson, Henrik; Lichtenstein, Paul; Almqvist, Catarina; Hultman, Christina M.; Tomson, Torbjörn; Ludvigsson, Jonas F.

    2016-01-01

    Objective: To investigate the risk of autism spectrum disorder (ASD) in individuals with epilepsy and in their first-degree relatives to determine shared etiology. Methods: Through the Swedish Patient Register, we identified 85,201 individuals with epilepsy, as well as all their siblings (n = 80,511) and offspring (n = 98,534). Each individual with epilepsy was compared with 5 controls, matched for age, sex, calendar period, and county, while siblings and offspring were compared with siblings and offspring of controls. We excluded siblings and offspring with epilepsy. Using Cox regression, we calculated hazard ratios (HRs) for future diagnosis of ASD. Logistic regression was applied to calculate odds ratios (ORs) for prior diagnosis of ASD. Results: During follow-up, 1,381 (1.6%) individuals with epilepsy and 700 (0.2%) controls were diagnosed with ASD. Individuals with epilepsy were therefore at increased risk of future ASD (HR 10.49, 95% confidence interval [CI] 9.55–11.53), with the highest risk seen in individuals diagnosed with epilepsy in childhood. Both siblings (HR 1.62, 95% CI 1.43–1.83) and offspring (HR 1.64, 95% CI 1.46–1.84) of epilepsy patients were at increased risk of ASD. The risk in the offspring was particularly high in mothers with epilepsy (HR 1.91; 95% CI 1.63–2.23). Epilepsy was also associated with a prior diagnosis of ASD (OR 4.56, 95% CI 4.02–5.18). Conclusions: Individuals with epilepsy are at increased risk of ASD, especially if epilepsy appears in childhood. Further, ASD is more common in the siblings and offspring of individuals with epilepsy, suggesting shared etiology. PMID:27306624

  15. Idiopathic non-specific interstitial pneumonia.

    PubMed

    Belloli, Elizabeth A; Beckford, Rosemarie; Hadley, Ryan; Flaherty, Kevin R

    2016-02-01

    Non-specific interstitial pneumonia (NSIP) is an interstitial lung disease that may be idiopathic or secondary to connective tissue disease, toxins or numerous other causes. Idiopathic NSIP is a rare diagnosis and requires exclusion of these other possible causes. Patients typically present in mid-adulthood with dyspnoea, cough and often constitutional symptoms including fever and fatigue. The disease has a female predominance, and more than 50% of patients have never smoked. Physical exam features mild hypoxaemia and inspiratory rales. Pulmonary function tests demonstrate restriction and a low diffusing capacity for carbon monoxide. High-resolution computed tomography abnormalities include predominantly lower lobe subpleural reticular changes, traction bronchiectasis and ground-glass opacities; honeycombing is rarely seen. An evaluation of the underlying pathology is necessary for a firm diagnosis. Histologically, alveolar and interstitial mononuclear cell inflammation and fibrosis are seen in a temporally uniform pattern with preserved underlying alveolar architecture. NSIP must be differentiated from other parenchymal lung diseases including idiopathic pulmonary fibrosis and hypersensitivity pneumonitis. A thorough exposure history and assessment for underlying connective tissue diseases are highly important, as positive findings in these categories would likely denote a case of secondary NSIP. A multi-disciplinary discussion that includes pulmonologist(s), radiologist(s) and pathologist(s) assists in reaching a consensus diagnosis and improves diagnostic accuracy. Treatment of idiopathic NSIP, although not well proven, is generally instituted in the form of immunosuppression. Prognosis is favourable compared with idiopathic pulmonary fibrosis, although the diagnosis still carries an attributable mortality. Herein we will summarize the clinical characteristics and management of idiopathic NSIP.

  16. Christianity and epilepsy.

    PubMed

    Owczarek, K; Jędrzejczak, J

    2013-01-01

    Epileptic seizures have been known from time immemorial. Throughout the ages, however, ideas concerning the aetiology and treatment of epilepsy have changed considerably. Epilepsy is mentioned many times in the Pentateuch, where it is portrayed as a mysterious condition, whose symptoms, course and contingencies evade rational laws and explanations. In the Middle Ages, the accepted view which prevailed in social consciousness was that patients with epilepsy were possessed by Satan and other impure spirits. One common method of treatment of epileptic seizures was to submit the patient to cruel exorcisms. Patients were frequently injured in the process and some of them even died. Our understanding of epilepsy and its social consequences has improved considerably within the last century. The most significant progress as far as diagnosis and treatment of epilepsy is concerned took place in the last four decades of the twentieth century. Although we now know much more about epilepsy than we used to, this knowledge is still insufficiently popularized.

  17. Headache and epilepsy.

    PubMed

    Bauer, P R; Carpay, J A; Terwindt, G M; Sander, J W; Thijs, R J; Haan, J; Visser, G H

    2013-08-01

    Headache and epilepsy often co-occur. Epidemiologic studies conducted in the past few years reinforce the notion of a bi-directional association between migraine and epilepsy. Data on an association between headache (in general) and epilepsy, however, are less clear. Peri-ictal headache often presents with migraine-like symptoms and can be severe. A correct diagnosis and management are paramount. It was demonstrated that cortical hyperexcitability may underlie both epilepsy and migraine. A recent study linked spreading depolarisation, the supposed underlying pathophysiological mechanism of migraine with aura, to epilepsy. Although this study was carried out in patients who had suffered a subarachnoid haemorrhage, the finding may shed light on pathophysiological mechanisms common to epilepsy and migraine.

  18. Pharmacoresistant epilepsy and nanotechnology.

    PubMed

    Rosillo-de la Torre, Argelia; Luna-Bárcenas, Gabriel; Orozco-Suárez, Sandra; Salgado-Ceballos, Hermelinda; García, Perla; Lazarowski, Alberto; Rocha, Luisa

    2014-06-01

    Epilepsy is one of the most common chronic neurological disorders. Furthermore, it is associated to diminished health-related quality of life and is thus considered a major public health problem. In spite of the large number of available and ongoing development of several new antiepileptic drugs (AEDs), a high percentage of patients with epilepsy (35-40%) are resistant to pharmacotherapy. A hypothesis to explain pharmacoresistance in epilepsy suggests that overexpression of multidrug resistance proteins, such as P-glycoprotein, on the endothelium of the blood brain barrier represents a challenge for effective AED delivery and concentration levels in the brain. Proven therapeutic strategies to control pharmacoresistant epilepsy include epilepsy surgery and neuromodulation. Unfortunately, not all patients are candidates for these therapies. Nanotechnology represents an attractive strategy to overcome the limited brain access of AEDs in patients with pharmacoresistant epilepsy. This manuscript presents a review of evidences supporting this idea.

  19. Photoacoustic Imaging of Epilepsy

    DTIC Science & Technology

    2013-04-01

    Numbers 1–5 indi- cate the corresponding blood vessels in the PAT image and rat brain photograph. 241L. Xiang et al. / NeuroImage 66 (2013) 240–248( Bertram ...the epileptic circuitry have enhanced excitability throughout ( Bertram et al., 1998; Fountain et al., 1998; Mangan et al., 2000). The implication of...antiepileptic drugs after epilepsy surgery: a survey of U.S. epilepsy center neurologists. Epilepsy Behav. 10, 219–222. Bertram , E.H., 2009. Temporal lobe

  20. Epilepsy, psychiatry, and neurology.

    PubMed

    Reynolds, Edward H; Trimble, Michael R

    2009-03-01

    This article reviews the relationship between the psychiatry and neurology of epilepsy, especially in the last 100 years. Throughout most of its recorded history of 3 to 4 millennia epilepsy has been viewed as a supernatural or mental disorder. Although first suggested by Hippocrates in the 5th century B.C., the concept of epilepsy as a brain disorder only began to take root in the 17th and 18th centuries. The discipline of neurology emerged from "nervous disorders" or neuropsychiatry in the late 19th century, when vascular theories of epilepsy predominated. By the turn of the 19th century psychiatry and neurology were diverging and epilepsy remained to some extent in both disciplines. It was only in the middle of the 20th century with the development of electromagnetic theories of epilepsy that the concept of epilepsy per se as a neurological disorder was finally adopted in international classifications of disease. This was associated with a refined definition of the ictal, pre-, post-, and interictal psychological disorders of epilepsy, which have contributed to a renaissance of neuropsychiatry. At the beginning of the 21st century and the centenary of the ILAE psychiatry and neurology have been converging again, led in some respects by epilepsy, which has provided several useful models of mental illness and a bridge between the two disciplines.

  1. Approaches to refractory epilepsy

    PubMed Central

    Engel, Jerome

    2014-01-01

    Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disabling seizures continue despite appropriate trials of two antiseizure drugs, either alone or in combination. At this point, patients should be referred to multidisciplinary epilepsy centers that perform specialized diagnostic testing to first determine whether they are, in fact, pharmacoresistant, and then, if so, offer alternative treatments. Apparent pharmacoresistance can result from a variety of situations, including noncompliance, seizures that are not epileptic, misdiagnosis of the seizure type or epilepsy syndrome, inappropriate use of medication, and lifestyle issues. For patients who are pharmacoresistant, surgical treatment offers the best opportunity for complete freedom from seizures. Surgically remediable epilepsy syndromes have been identified, but patients with more complicated epilepsy can also benefit from surgical treatment and require more specialized evaluation, including intracranial EEG monitoring. For patients who are not surgical candidates, or who are unwilling to consider surgery, a variety of other alternative treatments can be considered, including peripheral or central neurostimulation, ketogenic diet, and complementary and alternative approaches. When such alternative treatments are not appropriate or effective, quality of life can still be greatly improved by the psychological and social support services offered by multidisciplinary epilepsy centers. A major obstacle remains the fact that only a small proportion of patients with refractory epilepsy are referred for expert evaluation and treatment. PMID:24791078

  2. EPILEPSY AND MENTAL RETARDATION

    PubMed Central

    Madhavan, Thuppal; Narayan, Jayanthi

    1992-01-01

    Epilepsy is one of the most frequently associated conditions with mental retardation which interferes with the learning process. Vie present study investigates the 1207 cases (Male -8I4, Female-393) registered at NIMH, Secunderabad, over a period of two years. Vie factors studied were the prevalence of epilepsy, degree of mental retardation, aetiology and associated factors. Ten mentally retarded persons with epilepsy were followed up longitudinally to study the effect of epilepsy on learning. It was observed that an attack of seizure resulted in a setback in the learning of skills. The results are discussed. PMID:21776089

  3. Surgical treatment for epilepsy

    PubMed Central

    Engel, Jerome; Wiebe, Samuel; Radhakrishnan, Kurupath; Palmini, André

    2016-01-01

    Surgical treatment for epilepsy remains highly underutilized: in the United States, there has been no increase in the number of surgical procedures performed annually since 19901; for most patients referred, the average duration of epilepsy is 22 years2; and there has been no change in this delay to surgery3, despite two randomized controlled trials4, 5 and an American Academy of Neurology practice parameter that recommended surgery as the treatment of choice for medically refractory temporal lobe epilepsy6. This session addressed issues relevant to increasing the availability of epilepsy surgery, particularly in countries with limited resources.

  4. Sudden cardiac death in epilepsy disappoints, but epileptologists keep faith.

    PubMed

    Scorza, Fulvio A; Cavalheiro, Esper A; Costa, Jaderson Costa da

    2016-07-01

    Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in people with intractable epilepsy. Probably, optimization of seizure control will prevent some of these deaths. Briefly, we integrated in this paper some data about the epidemiology, risk factors, etiology, and preventative measures in the management of SUDEP.

  5. Epilepsy as a Neurodevelopmental Disorder

    PubMed Central

    Bozzi, Yuri; Casarosa, Simona; Caleo, Matteo

    2012-01-01

    Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different etiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signaling, and defects in maturation and plasticity of neuronal networks. In this review, we will focus on alterations of brain development that lead to an hyperexcitability phenotype in adulthood, providing examples from both animal and human studies. Malformations of cortical development (including focal cortical dysplasia, lissencephaly, heterotopia, and polymicrogyria) are frequently epileptogenic and result from defects in cell proliferation in the germinal zone and/or impaired neuronal migration and differentiation. Delayed or reduced arrival of inhibitory interneurons into the cortical plate is another possible cause of epileptogenesis. GABAergic neurons are generated during early development in the ganglionic eminences, and failure to pursue migration toward the cortex alters the excitatory/inhibitory balance resulting in aberrant network hyperexcitability. More subtle defects in the developmental assembly of excitatory and inhibitory synapses are also involved in epilepsy. For example, mutations in the presynaptic proteins synapsins and SNAP-25 cause derangements of synaptic transmission and plasticity which underlie appearance of an epileptic phenotype. Finally, there is evidence that defects in synapse elimination and remodeling during early “critical periods” can trigger hyperexcitability later in life. Further clarification of the developmental pathways to epilepsy has important implications for disease prevention and therapy. PMID:22457654

  6. Male idiopathic oligoasthenoteratozoospermia.

    PubMed

    Cavallini, Giorgio

    2006-03-01

    Idiopathic oligoasthenoteratozoospermia (iOAT) affects approximately 30% of all infertile men. This mini-review discussed recent data in this field. Age, non-inflammatory functional alterations in post-testicular organs, infective agents (Chlamydia trachomatis, herpes virus and adeno-associated viruses), alterations in gamete genome, mitochondrial alterations, environmental pollutants and "subtle" hormonal alterations are all considered possible causes of iOAT. Increase of reactive oxygen species in tubules and in seminal plasma and of apoptosis are reputed to affect sperm concentration, motility and morphology. iOAT is commonly diagnosed by exclusion, nevertheless spectral traces of the main testicular artery may be used as a diagnostic tool for iOAT. The following can be considered therapies for iOAT: 1) tamoxifen citrate (20 mg/d) + testosterone undecanoate (120 mg/d) (pregnancy rate per couple/month [prcm]: 3.8%); 2) folic acid (66 mg/d) + zinc sulfate (5 mg/d); 3) L-carnitine (2 g/d) alone or in combination with acetyl-L-carnitine (1 g/d) (prcm: 2.3%); and 4) both carnitines = one 30 mg cinnoxicam suppository every 4 days (prcm: 8.5%). Alpha-blocking drugs improved sperm concentration but not morphology, motility or pregnancy rate. Tranilast (300 mg/d) increased sperm parameters and pregnancy rates in an initial uncontrolled study. Its efficacy on sperm concentration (but not on sperm motility, morphology or prcm) was confirmed in subsequent published reports. The efficacy of tamoxifen + testosterone undecanoate, tamoxifen alone, and recombinant follicle-stimulating hormone is still a matter for discussion.

  7. [Traumatic recurrence of idiopathic spinal cord herniation].

    PubMed

    Lorente-Muñoz, Asís; Cortés-Franco, Severiano; Moles-Herbera, Jesús; Casado-Pellejero, Juan; Rivero-Celada, David; Alberdi-Viñas, Juan

    2013-01-01

    Idiopathic spinal cord herniation is a rare cause of thoracic myelopathy and its recurrence is even more infrequent. Cord herniation is through an anterior dural defect in thoracic spine with unknown causes. Symptomatic cases must be surgically treated to reduce the hernia and seal the defect to prevent recurrences. We report a patient presenting a Brown-Séquard syndrome secondary to a D5 spinal cord herniation treated successfully and its posterior traumatic recurrence.

  8. Successful steroid treatment of acquired idiopathic partial hypohidrosis.

    PubMed

    Yoritaka, Asako; Hishima, Tsunekazu; Akagi, Kumiko; Kishida, Shuji

    2006-04-01

    The pathogenesis of idiopathic-acquired hypohidrosis remains unknown, and no specific causes have yet been established. We report a 34-year-old man with acquired idiopathic hypohidrosis successfully treated with prednisolone. The patient noticed heat intolerance and hypohidrosis of the pectoral and back during the summer. No systemic disease or neurological findings were identified. Eccrine sweat glands displayed infiltration by inflammatory cells, with immunoglobulin G and C3 deposition in the basement membrane. Steroid therapy improved the hypohidrosis. An immunological pathogenesis could be a major factor in idiopathic-acquired hypohidrosis.

  9. Idiopathic Multifocal Choroiditis

    PubMed Central

    Tavallali, Ali; Yannuzzi, Lawrence A.

    2016-01-01

    Idiopathic multifocal choroiditis (MFC) and/or punctate inner choroidopathy (PIC) describe a chronic progressive bilateral inflammatory chorioretinopathy that predominantly affect healthy myopic white women with no known associated systemic or ocular diseases. The principal sites of involvement are the retinal pigment epithelium (RPE) and outer retinal spaces; the choroid is not affected during the active phase of the disease. Idiopathic MFC with atrophy is a recently described variant. Although there is no generally accepted standard treatment, anti-inflammatory and anti-VEGF (vascular endothelial growth factor) agents are necessary in the acute stage to control the inflammation and choroidal neovascularization (CNV). PMID:27994812

  10. Idiopathic pulmonary artery aneurysm.

    PubMed

    Kotwica, Tomasz; Szumarska, Joanna; Staniszewska-Marszalek, Edyta; Mazurek, Walentyna; Kosmala, Wojciech

    2009-05-01

    Pulmonary artery aneurysm (PAA) is an uncommon lesion, which may be associated with different etiologies including congenital cardiovascular diseases, systemic vasculitis, connective tissue diseases, infections, and trauma. Idiopathic PAA is sporadically diagnosed by exclusion of concomitant major pathology. We report a case of a 56-year-old female with an idiopathic pulmonary artery dilatation identified fortuitously by echocardiography and confirmed by contrast-enhanced computed tomography. Neither significant pulmonary valve dysfunction nor pulmonary hypertension and other cardiac abnormalities which might contribute to the PAA development were found. Here, we describe echocardiographic and computed tomography findings and review the literature on PAA management.

  11. [Idiopathic intracranial hypertension].

    PubMed

    Bäuerle, J; Egger, K; Harloff, A

    2017-02-01

    This review describes the clinical findings as well as thes diagnostic and therapeutic options for idiopathic intracranial hypertension (pseudotumor cerebri). Furthermore, the pathophysiological concepts are discussed. Idiopathic intracranial hypertension is characterized by signs and symptoms of raised intracranial pressure with no established pathogenesis. Common symptoms include headaches, visual loss and pulsatile tinnitus. Treatment has two major goals: the alleviation of headaches and the preservation of vision. Weight loss and acetazolamide are the cornerstones in the treatment of the disorder. Drainage of cerebrospinal fluid, optic nerve sheath fenestration and stent angioplasty of a sinus stenosis can be employed in severe cases.

  12. Is routine electroencephalography (EEG) a useful biomarker for pharmacoresistant epilepsy?

    PubMed

    Steinhoff, Bernhard J; Scholly, Julia; Dentel, Christel; Staack, Anke Maren

    2013-05-01

    People with seizure disorders who have been treated at the Kork Epilepsy Center over a prolonged time period and who thus provide data concerning the chronic course of epilepsy were investigated in order to address the potential role of electroencephalography (EEG) as a biomarker for pharmacoresistant epilepsy. Clinical course and the corresponding findings from their first recorded EEG, their first EEG following appropriate treatment, and their last EEG were compared. Furthermore, we investigated if interictal epileptiform discharges (IEDs) differ in amplitude and morphology if recorded in long-term seizure-free patients. The early cessation of IEDs was a relatively good marker for a good prognosis, especially in idiopathic generalized epilepsies. However, persistent IEDs had no major impact on the long-term prognosis. We found no differences between IEDs in seizure-free patients or patients with ongoing seizures. Therefore, in our hands, routine EEG was not an appropriate biomarker for the prediction of pharmacoresistant epilepsy. Additional factors such as etiology and pathophysiology also need to be considered.

  13. Addressing the burden of epilepsy: Many unmet needs.

    PubMed

    Beghi, Ettore

    2016-05-01

    Epilepsy is a heterogeneous clinical condition characterized by recurrent unprovoked seizures, their causes and complications. The incidence, prevalence and mortality of epilepsy vary with age, place and time contributing to a variable extent to the burden of the disease. Diagnostic misclassification may have strong impact on personal and societal reflections of the disease in light of its clinical manifestations and the need for chronic treatment. Epilepsy accounts for a significant proportion of the world's disease burden ranking fourth after tension-type headache, migraine and Alzheimer disease. Among neurological diseases, it accounts for the highest disability-adjusted life year rates both in men and in women. Although epilepsy is self-remitting in up to 50% of cases, variable long-term prognostic patterns can be identified based on the response to the available treatments. Epilepsy carries an overall increased risk of premature mortality with variable estimates across countries. Premature mortality predominates in patients aged less than 50 years, with epilepsies due to structural/metabolic conditions, with generalized tonic-clonic seizures, and seizures not remitting under treatment. Among deaths directly attributable to epilepsy or seizures, included are sudden unexpected death in epilepsy (SUDEP), status epilepticus, accidents, drowning, unintentional injuries, and suicide. Somatic and psychiatric disorders prevail in patients with epilepsy than in people without epilepsy. Asthma, migraine and cerebral tumors tend to occur more frequently in younger adults while cardiovascular disorders, stroke, dementia and meningioma predominate in the elderly. As being a fairly common clinical condition affecting all ages and requiring long-term (sometimes lifelong) treatment, epilepsy carries high health care costs for the society. Direct costs peak in the first year after diagnosis and then vary according to the severity of the disease, the response to treatment, and

  14. Genes, Seizures & Epilepsy

    ERIC Educational Resources Information Center

    Goldman, Alica M.

    2006-01-01

    The chance that someone will develop any disease is influenced by heredity and environment. Epilepsy is not an exception. Everybody inherits a unique degree of susceptibility to seizures. About 3 percent of the United States population is prone to seizures and will get epilepsy at some point of their lives (1). Two thirds of the people with…

  15. Epilepsy and oral care.

    PubMed

    Fiske, Janice; Boyle, Carole

    2002-05-01

    Epilepsy is a common symptom of an underlying neurological disorder. The seizures can take a variety of forms. Both the condition and its medical management can affect oral health. Prevention of oral disease and carefully planned dental treatment are essential to the well-being of people with epilepsy.

  16. CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation

    PubMed Central

    Liu, J; Gao, C; Chen, W; Ma, W; Li, X; Shi, Y; Zhang, H; Zhang, L; Long, Y; Xu, H; Guo, X; Deng, S; Yan, X; Yu, D; Pan, G; Chen, Y; Lai, L; Liao, W; Li, Z

    2016-01-01

    Mutations in SCN1A, the gene encoding the α subunit of Nav1.1 channel, can cause epilepsies with wide ranges of clinical phenotypes, which are associated with the contrasting effects of channel loss-of-function or gain-of-function. In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy caused by SCN1A loss-of-function mutation. By fluorescently labeling GABAergic subtype in iPSC-derived neurons using CRISPR/Cas9, we for the first time performed electrophysiological studies on SCN1A-expressing neural subtype and monitored the postsynaptic activity of both inhibitory and excitatory types. We found that the mutation c.A5768G, which led to no current of Nav1.1 in exogenously transfected system, influenced the properties of not only Nav current amount, but also Nav activation in Nav1.1-expressing GABAergic neurons. The two alterations in Nav further reduced the amplitudes and enhanced the thresholds of action potential in patient-derived GABAergic neurons, and led to weakened spontaneous inhibitory postsynaptic currents (sIPSCs) in the patient-derived neuronal network. Although the spontaneous excitatory postsynaptic currents (sEPSCs) did not change significantly, when the frequencies of both sIPSCs and sEPSCs were further analyzed, we found the whole postsynaptic activity transferred from the inhibition-dominated state to excitation in patient-derived neuronal networks, suggesting that changes in sIPSCs alone were sufficient to significantly reverse the excitatory level of spontaneous postsynaptic activity. In summary, our findings fill the gap of our knowledge regarding the relationship between SCN1A mutation effect recorded on exogenously transfected cells and on Nav1.1-expressing neurons, and reveal the physiological basis underlying epileptogenesis caused by SCN1A loss-of-function mutation. PMID:26731440

  17. Selenium and topiramate attenuates blood oxidative toxicity in patients with epilepsy: a clinical pilot study.

    PubMed

    Yürekli, Vedat Ali; Nazıroğlu, Mustafa

    2013-05-01

    It is well known that oxidative stress plays an important role in the etiology of epilepsy. We investigated effects of selenium (Se) and topiramate (TPM) combination supplementation on antioxidant and oxidant values in control and patients with epilepsy and refractory epilepsy. For the aim, we used control (n = 19), epilepsy + TPM (n = 19), epilepsy + TPM + Se (n = 15) groups. We also used control (n = 15), refractory epilepsy (n = 15), and refractory epilepsy + Se (n = 8) groups. TPM (0.2 mg/daily) and Se, as sodium selenite (twice daily with 0.1 mg doses), were orally supplemented to the patients for 45 days. Erythrocyte lipid peroxidation levels were higher in refractory epilepsy groups than in control although its level and seizure numbers were decreased in TPM and TPM + Se supplemented groups of the patients. The erythrocyte reduced glutathione (GSH), glutathione peroxidase (GSH-Px), plasma total antioxidant status (TAS), and vitamin E concentration in refractory epilepsy group were lower than in control. However, the erythrocyte and plasma TAS, erythrocyte GSH and GSH-Px, and plasma vitamins A and C values were increased either by Se or Se + TPM in epilepsy and refractory epilepsy groups. There were no effects of TPM and Se on plasma β-carotene values in the groups. In conclusion, TPM and selenium caused protective effects on the epilepsy and refractory epilepsy-induced oxidative injury by inhibiting free radical production and supporting antioxidant redox system.

  18. Sex, epilepsy, and epigenetics

    PubMed Central

    Qureshi, Irfan A.; Mehler, Mark F.

    2014-01-01

    Epilepsy refers to a heterogeneous group of disorders that are associated with a wide range of pathogenic mechanisms, seizure manifestations, comorbidity profiles, and therapeutic responses. These characteristics are all influenced quite significantly by sex. As with other conditions exhibiting such patterns, sex differences in epilepsy are thought to arise—at the most fundamental level—from the “organizational” and “activational” effects of sex hormones as well as from the direct actions of the sex chromosomes. However, our understanding of the specific molecular, cellular, and network level processes responsible for mediating sex differences in epilepsy remains limited. Because increasing evidence suggests that epigenetic mechanisms are involved both in epilepsy and in brain sexual dimorphism, we make the case here that analyzing epigenetic regulation will provide novel insights into the basis for sex differences in epilepsy. PMID:24998474

  19. Epilepsy treatment and creativity.

    PubMed

    Zubkov, Sarah; Friedman, Daniel

    2016-04-01

    Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  20. Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.

    PubMed

    Steinlein, Ortrud K

    2014-01-01

    Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was the first epilepsy in humans that could be linked to specific mutations. It had been initially described as a channelopathy due to the fact that for nearly two decades mutations were exclusively found in subunits of the nicotinic acetylcholine receptor. However, newer findings demonstrate that the molecular pathology of ADNFLE is much more complex insofar as this rare epilepsy can also be caused by genes coding for non-ion channel proteins. It is becoming obvious that the different subtypes of focal epilepsies are not strictly genetically separate entities but that mutations within the same gene might cause a clinical spectrum of different types of focal epilepsies.

  1. Epilepsy: Asia versus Africa.

    PubMed

    Bhalla, Devender; Tchalla, Achille Edem; Marin, Benoît; Ngoungou, Edgard Brice; Tan, Chong Tin; Preux, Pierre-Marie

    2014-09-01

    Is epilepsy truly an "African ailment"? We aimed to determine this, since international health agencies often refer to epilepsy as an African disease and the scientific literature has spoken the same tone. Various published materials, mainly reports, articles, were used to gather Asian and African evidence on various aspects of epilepsy and many of its risk and associated factors. Our results suggest that in no way can epilepsy be considered as an African ailment and such characterization is most likely based on popular beliefs rather than scientific evidence. In comparison to Africa, Asia has a 5.0% greater burden from all diseases, and is 17.0% more affected from neuropsychiatric disorders (that include epilepsy). Given that more countries in Asia are transitioning, there may be large demographic and lifestyle changes in the near future. However these changes are nowhere close to those expected in Africa. Moreover, 23 million Asians have epilepsy in comparison to 3.3 million Africans and 1.2 million sub-Saharan Africans. In comparison to Africa, Asia has more untreated patients, 55.0% more additional epilepsy cases every year, because of its larger population, with greater treatment cost and possibly higher premature mortality. Of several associated factors discussed herein, many have more importance for Asia than Africa. The current state of epilepsy in Asia is far less than ideal and there is an urgent need to recognize and accept the importance of epilepsy in Asia. In no way can epilepsy be considered as an African ailment. This is most likely based on popular beliefs rather than scientific evidence. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

  2. Sclerosing idiopathic orbital inflammation.

    PubMed

    Brannan, Paul A; Kersten, Robert C; Kulwin, Dwight R

    2006-01-01

    A 5-year-old girl referred for orbital cellulitis was found to have a right orbital mass. Computed tomography revealed a mass occupying the inferotemporal orbit, extending into the maxillary sinus. Biopsy yielded a diagnosis of sclerosing idiopathic orbital inflammation. She was successfully treated with prednisone.

  3. [Idiopathic renal arteriovenous fistula].

    PubMed

    Bennani, S; Ait Bolbarod, A; el Mrini, M; Kadiri, R; Benjelloun, S

    1996-06-01

    The authors report a case of idiopathic renal arteriovenous fistula. The diagnosis was established angiographically in a 24 year old man presenting gross hematuria. Embolization of the fistula was performed. Efficiency of this treatment was appreciated clinically and by duplex renal ultrasonography. The characteristics of renal arteriovenous fistulas are reviewed.

  4. Idiopathic Arterial Calcification of Infancy: Case Report.

    PubMed

    Attia, Tarek Hamed; Abd Alhamed, Mohamed Maisara; Selim, Mohamed Fouad; Haggag, Mohamed Salah; Fathalla, Diaa

    2015-11-01

    Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima which causes luminal narrowing. Here we are reporting a case of idiopathic arterial calcification of infancy in a Saudi female newborn of non-consanguineous pregnant woman who had polyhydramnios. The newborn baby had severe respiratory distress, systemic hypertension and persistent pulmonary hypertension of newborn. She was admitted to Neonatal Intensive Care Unit, where she was ventilated and proper treatment was provided. Molecular genetic testing was positive for mutations of ectonucleotide pyrophosphatase/phosphodiesterase1 gene which is reported in 80% of cases of Idiopathic arterial calcification of infancy. The baby died at about 5 month of age because of myocardial ischemia and cardiorespiratory arrest. Idiopathic Arterial Calcification of Infancy should be considered in any newborn who presented with persistent pulmonary hypertension of newborn, severe systemic hypertension and echogenic vessels on any radiological study. Calcifications of large and medium-sized arteries are important diagnostic finding.

  5. Idiopathic neuropathy, prediabetes and the metabolic syndrome.

    PubMed

    Gordon Smith, A; Robinson Singleton, J

    2006-03-15

    Peripheral neuropathy is a common problem encountered by neurologists and primary care physicians. While there are many causes for peripheral neuropathy, none can be identified in a large percentage of patients ("idiopathic neuropathy"). Despite its high prevalence, idiopathic neuropathy is poorly studied and understood. There is evolving evidence that impaired glucose tolerance (prediabetes) is associated with idiopathic neuropathy. Preliminary data from a multicenter study of diet and exercise in prediabetes (the Impaired Glucose Tolerance Neuropathy Study) suggests a diet and exercise counseling regimen based on the Diabetes Prevention Program results in improved metabolic measures and small fiber function. Prediabetes is part of the Metabolic Syndrome, which also includes hypertension, hyperlipidemia and obesity. Individual aspects of the Metabolic Syndrome influence risk and progression of diabetic neuropathy and may play a causative role in neuropathy both for those with prediabetes, and those with otherwise idiopathic neuropathy. Thus, a multifactorial treatment approach to individual components of Metabolic Syndrome may slow prediabetic neuropathy progression or result in improvement.

  6. Idiopathic Arterial Calcification of Infancy: Case Report

    PubMed Central

    Attia, Tarek Hamed; Abd Alhamed, Mohamed Maisara; Selim, Mohamed Fouad; Haggag, Mohamed Salah; Fathalla, Diaa

    2015-01-01

    Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima which causes luminal narrowing. Here we are reporting a case of idiopathic arterial calcification of infancy in a Saudi female newborn of non-consanguineous pregnant woman who had polyhydramnios. The newborn baby had severe respiratory distress, systemic hypertension and persistent pulmonary hypertension of newborn. She was admitted to Neonatal Intensive Care Unit, where she was ventilated and proper treatment was provided. Molecular genetic testing was positive for mutations of ectonucleotide pyrophosphatase/phosphodiesterase1 gene which is reported in 80% of cases of Idiopathic arterial calcification of infancy. The baby died at about 5 month of age because of myocardial ischemia and cardiorespiratory arrest. Idiopathic Arterial Calcification of Infancy should be considered in any newborn who presented with persistent pulmonary hypertension of newborn, severe systemic hypertension and echogenic vessels on any radiological study. Calcifications of large and medium-sized arteries are important diagnostic finding. PMID:27252793

  7. Idiopathic Scoliosis and the Vestibular System

    PubMed Central

    Hawasli, Ammar H.; Hullar, Timothy E.; Dorward, Ian G.

    2014-01-01

    Purpose Despite its high prevalence, the etiology underlying idiopathic scoliosis remains unclear. Although initial scrutiny has focused on genetic, biochemical, biomechanical, nutritional and congenital causes, there is growing evidence that aberrations in the vestibular system may play a role in the etiology of scoliosis. In this article, we discuss putative mechanisms for adolescent idiopathic scoliosis and review the current evidence supporting a role for the vestibular system in adolescent idiopathic scoliosis. Methods A comprehensive search of the English literature was performed using PubMed (http://www.ncbi.nlm.nih.gov/pubmed). Research articles studying interactions between adolescent idiopathic scoliosis and the vestibular system were selected and evaluated for inclusion in a literature review. Results Eighteen manuscripts of level 3-4 clinical evidence to support an association between AIS and dysfunction of the vestibular system. These studies include data from physiologic and morphologic studies in humans. Clinical data are supported by animal model studies to suggest a causative link between the vestibular system and AIS. Conclusions Clinical data and a limited number of animal model studies suggest a causative role of the vestibular system in AIS, although this association has not been reproduced in all studies. PMID:25430569

  8. Idiopathic paroxysmal kinesigenic dyskinesia in Malaysia, a multi-racial Southeast Asian country.

    PubMed

    Tai, Mei-Ling Sharon; Lim, Shen-Yang; Tan, Chong Tin

    2010-08-01

    Paroxysmal kinesigenic dyskinesia is a rare disorder, and there are few reports of Asian patients with this condition. We reviewed the clinical features of all patients with idiopathic paroxysmal kinesigenic dyskinesia (PKD) seen at a major neurological centre in Malaysia. The charts of 11 patients with idiopathic PKD seen between 1995 and 2008 were reviewed retrospectively. The male:female ratio was 9:2. Ten patients were of Chinese ethnicity, and one was Malay. Three patients (from two families) had a family history of PKD. The involuntary movement was dystonia in 73% of patients. In one patient, attacks were precipitated by vestibular stimulation. One patient had generalized epilepsy. Another patient who did not have epilepsy demonstrated epileptiform discharges. Only slightly over one-quarter of patients had a positive family history. Males, and people of Chinese ancestry, seem to be affected more frequently by PKD in certain Asian populations.

  9. Art and epilepsy surgery.

    PubMed

    Ladino, Lady Diana; Hunter, Gary; Téllez-Zenteno, José Francisco

    2013-10-01

    The impact of health and disease has led many artists to depict these themes for thousands of years. Specifically, epilepsy has been the subject of many famous works, likely because of the dramatic and misunderstood nature of the clinical presentation. It often evokes religious and even mythical processes. Epilepsy surgical treatment has revolutionized the care of selected patients and is a relatively recent advance. Epilepsy surgery has been depicted in very few artistic works. The first portrait showing a potential surgical treatment for patients with epilepsy was painted in the 12th century. During the Renaissance, Bosch famously provided artistic commentary on traditional beliefs in "The stone of madness". Several of these works demonstrate a surgeon extracting a stone from a patient's head, at one time believed to be the source of all "folly", including epileptic seizures, psychosis, intellectual disability, depression, and a variety of other illnesses. There are some contemporary art pieces including themes around epilepsy surgery, all of them depicting ancient Inca Empire procedures such as trepanning. This article reviews the most relevant artistic works related with epilepsy surgery and also its historical context at the time the work was produced. We also present a painting from the Mexican artist Eduardo Urbano Merino that represents the patient's journey through refractory epilepsy, investigations, and ultimately recovery. Through this work, the artist intends to communicate hope and reassurance to patients going through this difficult process.

  10. Magnetoencephalography in pediatric epilepsy

    PubMed Central

    Kim, Hunmin; Chung, Chun Kee

    2013-01-01

    Magnetoencephalography (MEG) records the magnetic field generated by electrical activity of cortical neurons. The signal is not distorted or attenuated, and it is contactless recording that can be performed comfortably even for longer than an hour. It has excellent and decent temporal resolution, especially when it is combined with the patient's own brain magnetic resonance imaging (magnetic source imaging). Data of MEG and electroencephalography are not mutually exclusive and it is recorded simultaneously and interpreted together. MEG has been shown to be useful in detecting the irritative zone in both lesional and nonlesional epilepsy surgery. It has provided valuable and additive information regarding the lesion that should be resected in epilepsy surgery. Better outcomes in epilepsy surgery were related to the localization of the irritative zone with MEG. The value of MEG in epilepsy surgery is recruiting more patients to epilepsy surgery and providing critical information for surgical planning. MEG cortical mapping is helpful in younger pediatric patients, especially when the epileptogenic zone is close to the eloquent cortex. MEG is also used in both basic and clinical research of epilepsy other than surgery. MEG is a valuable diagnostic modality for diagnosis and treatment, as well as research in epilepsy. PMID:24244211

  11. [Migraine and epilepsy].

    PubMed

    Tsuji, Sadatoshi

    2014-01-01

    Migraine and epilepsy are both common episodic disorders that share many clinical features and underlying pathophysiological mechanisms. The comorbidity of these two conditions is well known. However, the temporal association between migraine and epilepsy is a controversial issue, since these two conditions may occur in numerous ways. Four types of association between headache and epileptic seizure are recognized: pre-ictal headache, headache as the expression of an epileptic manifestation, post-ictal headache, and inter-ictal headache. The classification of epilepsy by the International League Against Epilepsy did not refer to the epileptic headache. On the other hand, the International Classification of Headache Disorders, 3rd edition (ICHD-3) defines three entities: migraine aura-triggered seizure which sometimes referred to as migralepsy, hemicrania epileptica, and post-ictal headache. However, ICHD-3 mentions that there is a complex and bidirectional association between migraine and epilepsy. Most of the previous reports of migralepsy corresponded to occipital seizures that mimic migraine with aura. The term migralepsy has recently been criticized. Migraine and epilepsy share several pathophysiological mechanisms which involve neurotransmitters and iron channel dysfunctions. There is the hypothesis of a shared genetic susceptibility to migraine and epilepsy. Strong support of a shared genetic basis comes from familial hemiplegic migraine.

  12. Epilepsy is Dancing.

    PubMed

    Tuft, Mia; Gjelsvik, Bergljot; Nakken, Karl O

    2015-10-01

    In "Epilepsy is Dancing", in Antony and the Johnsons' album "The Crying Light"(2009), the lyrics and accompanying music video depicts an epileptic seizure in which the person is transferred to another beautiful and magical world. This may be called "enchanted epilepsy"; i.e., the experience of epilepsy as deeply nourishing and (positively) transforming, is conveyed not only in the lyrics but also the visual and auditory qualities of the video. The seizure in the video gives associations to Shakespeare's "A Midsummer Night's dream". If epilepsy appears in music lyrics, the focus is mostly on negative aspects of the illness, such as horror, fear and repulsive sexuality associated with the fits [1,2]. Contradictory to these lyrics, Anthony and the Johnsons' song is an example of a positive portrayal of epilepsy. It is open to a multitude of meanings, emotional valence and appraisal of epilepsy. By widening the experiential range associated with epileptic seizures, these lyrics highlight the inherently construed nature of epileptic experience. The song stands out in several ways. First, it describes epilepsy in positive terms, prioritising the euphoric, ecstatic, potentially empowering and enhancing aspects of epileptic seizures. Second, the lyrics and accompanying video point to divine experiences associated with epileptic seizures. Through the lyrics and the music video we are, as an audience, able to sense a snicket of an epileptic seizure, but also the universal experience of loosing control.

  13. Diagnosing and treating depression in epilepsy.

    PubMed

    Elger, Christian E; Johnston, Samantha A; Hoppe, Christian

    2017-01-01

    At least one third of patients with active epilepsy suffer from significant impairment of their emotional well-being. A targeted examination for possible depression (irrespective of any social, financial or personal burdens) can identify patients who may benefit from medical attention and therapeutic support. Reliable screening instruments such as the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) are suitable for the timely identification of patients needing help. Neurologists should be capable of managing mild to moderate comorbid depression but referral to mental health specialists is mandatory in severe and difficult-to-treat depression, or if the patient is acutely suicidal. In terms of the therapeutic approach, it is essential first to optimize seizure control and minimize unwanted antiepileptic drug-related side effects. Psychotherapy for depression in epilepsy (including online self-treatment programs) is underutilized although it has proven effective in ten well-controlled trials. In contrast, the effectiveness of antidepressant drugs for depression in epilepsy is unknown. However, if modern antidepressants are used (e.g. SSRI, SNRI, NaSSA), concerns about an aggravation of seizures and or problematic interactions with antiepileptic drugs seem unwarranted. Epilepsy-related stress ("burden of epilepsy") explains depression in many patients but acute and temporary seizure-related states of depression or suicidality have also been reported. Limbic encephalitits may cause isolated mood alteration without any recognizable psychoetiological background indicating a possible role of neuroinflammation. This review will argue that, overall, a bio-psycho-social model best captures the currently available evidence relating to the etiology and treatment of depression as a comorbidity of epilepsy.

  14. Giant scrotal elephantiasis: an idiopathic case.

    PubMed

    Dianzani, C; Gaspardini, F; Persichetti, P; Brunetti, B; Pizzuti, A; Margiotti, K; Degener, A M

    2010-01-01

    Scrotal elephantiasis is very rare disease in industrialized countries, where it is mainly due to surgery, irradiation or malignancies. It can be defined as idiopathic only when the possible congenital, infectious and compressive causes are excluded. We report a case of massive scrotal lymphoedema in an adult Caucasian patient, in Italy. He presented an extremely voluminous scrotal mass measuring 50 x 47 x 13 cm (weight 18 kg), which extended below his knees, invalidating all his daily activities. The patient was hospitalized in order to undergo to surgical treatment. Although genetic causes were searched and the possible role of infectious agents and compressive factors was evaluated, no etiology was ascertained. Histopathologic examination showed non-specific chronic inflammation, confirming the diagnosis of idiopathic elephantiasis. One year after surgical treatment, the patient is healthy without recurrence signs.

  15. Epidemiology of idiopathic pulmonary fibrosis

    PubMed Central

    Ley, Brett; Collard, Harold R

    2013-01-01

    Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence) and public health impact (ie, health care costs and resource utilization). Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. PMID:24348069

  16. Molecular etiology of idiopathic cardiomyopathy

    PubMed Central

    Arimura, T; Hayashi, T; Kimura, A

    2007-01-01

    Summary Idiopathic cardiomyopathy (ICM) is a primary cardiac disorder associated with abnormalities of ventricular wall thickness, size of ventricular cavity, contraction, relaxation, conduction and rhythm. Over the past two decades, molecular genetic analyses have revealed that mutations in the various genes cause ICM and such information concerning the genetic basis of ICM enables us to speculate the pathogenesis of this heterogeous cardiac disease. This review focuses on the molecular pathogenesis, i.e., genetic abnormalities and functional alterations due to the mutations especially in sarcomere/cytoskeletal components, in three characteristic features of ICM, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). Understanding the functional abnormalities of the sarcomere/cytoskeletal components, in ICM, has unraveled the function of these components not only as a contractile unit but also as a pivot for transduction of biochemical signals. PMID:18646564

  17. Idiopathic Renal Infarction Mimicking Appendicitis

    PubMed Central

    Lisanti, Francesco; Scarano, Enrico

    2017-01-01

    Renal infarction is a rare cause of referral to the emergency department, with very low estimated incidence (0.004%–0.007%). Usually, it manifests in patients aged 60–70 with risk factors for thromboembolism, mostly related to heart disease, atrial fibrillation in particular. We report a case of idiopathic segmental renal infarction in a 38-year-old patient, presenting with acute abdominal pain with no previous known history or risk factors for thromboembolic diseases. Because of its aspecific clinical presentation, this condition can mimic more frequent pathologies including pyelonephritis, nephrolithiasis, or as in our case appendicitis. Here we highlight the extremely ambiguous presentation of renal infarct and the importance for clinicians to be aware of this condition, particularly in patients without clear risk factors, as it usually has a good prognosis after appropriate anticoagulant therapy. PMID:28203466

  18. Genetics Home Reference: adolescent idiopathic scoliosis

    MedlinePlus

    ... Understand Genetics Home Health Conditions adolescent idiopathic scoliosis adolescent idiopathic scoliosis Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

  19. Kienbock's disease and juvenile idiopathic arthritis.

    PubMed

    Desy, Nicholas M; Bernstein, Mitchell; Harvey, Edward J; Hazel, Hazel

    2011-06-01

    Kienbock's disease or osteonecrosis of the lunate is an uncommon cause of wrist pain. . Though there have been several reports of cases in patients with various rheumatologic diseases, the precise etiology has currently not been established. We report a case of Kienbock's disease that occurred in a patient with juvenile idiopathic arthritis. To our knowledge, this is the first case report with an association between these two conditions.

  20. Possible methods for the prevention of bone loss in persons with epilepsy.

    PubMed

    Elliott, John O

    2009-06-01

    Various antiepileptic drugs are known to cause bone mineral density (BMD) loss in persons with epilepsy. In general population studies, physical activity has a profound effect on bone health. Vitamin D deficiency, common in persons with epilepsy, is also associated with various chronic health conditions and osteoporosis in the general population. People with epilepsy would benefit from interventional research focused on the prevention of BMD loss. Exercise, healthy dietary habits and nutritional supplementation are important for the development and maintenance of bone health as well as for the prevention of comorbid conditions that are common in epilepsy. Consensus guidelines are needed for the prevention, screening and treatment of BMD loss in epilepsy.

  1. Gender issues in the neurobiology of epilepsy: a clinical perspective.

    PubMed

    Koppel, Barbara S; Harden, Cynthia L

    2014-12-01

    A patient's hormonal milieu contributes to the timing of emergence of several epilepsy syndromes that are known to begin at puberty and recede with the end of reproductive potential. One's hormonal balance at any particular moment contributes to seizure occurrence in both men and women. The best studied condition, catamenial epilepsy, refers to seizure clusters occurring in a cyclical pattern related to menses. Treatment of epilepsy using hormones complements standard antiepileptic therapy and its use will be reviewed, along with some other medications unique to catamenial epilepsy, such as diuretics.Seizures and “silent” epileptiform discharges in turn affect the hypothalamic pituitary axis and can cause release of hormones at inappropriate times leading to sexual dysfunction, menstrual irregularity, infertility and premature termination of reproductive states. Combined with psychological consequences of epilepsy, this sexual dysfunction has deleterious effects on the quality of life in patients and their partners.

  2. Splenectomy in idiopathic hypersplenism.

    PubMed

    Wani, Nazir A; Parray, Fazl Q

    2006-01-01

    The therapeutic effects of splenectomy in 15 patients with idiopathic hypersplenism were studied. The mean age was 43 years (range, 5-72 years). The male to female ratio was 1:1.14. The response to splenectomy was: in thrombocytopenia, complete response (CR) in 71%, partial response (PR) and no response (NR) in 14% each of patients; in anemia, CR in 83%, PR in 0%, and NR in 16% of patients; and in leukopenia, CR in 78% and PR and NR in 11% each of patients. However, the morbidity (27%) and mortality (20%) observed was quite high. Thus, we conclude that splenectomy is an excellent treatment to improve the hematological parameters in patients with idiopathic hypersplenism, but elderly patients and patients with multisystem disease should not have this surgery.

  3. [Adolescent idiopathic scoliosis].

    PubMed

    2016-12-01

    Adolescent idiopathic scoliosis is a 3D spinal deformity in frontal, sagittal and axial planes, with high relevance in the pediatric population especially in adolescents and females between 10 years of age and the end of growth spurt and skeletal maturity. The radiographic manifestation is a curve greater than 10° measured by Cobb method associated with vertebral rotation. "Idiopathic" diagnosis has to be done after neuroanatomical anomalies of the posterior cerebral fosa and spinal canal have been ruled out. The physical finding of a thoracic or lumbar hump is the clinical manifestation of vertebral rotation seen in a forward bending test (Adam's Test). It is recommended that all curves with a magnitude greater than 20° have to be controlled and treated by a spinal surgeon being observation, bracing and surgery the different treatment options based on the extent, progression of deformity and basically the clinical condition of the patient.

  4. Idiopathic pulmonary fibrosis.

    PubMed

    Xaubet, Antoni; Ancochea, Julio; Molina-Molina, María

    2017-02-23

    Idiopathic pulmonary fibrosis is a fibrosing interstitial pneumonia associated with the radiological and/or histological pattern of usual interstitial pneumonia. Its aetiology is unknown, but probably comprises the action of endogenous and exogenous micro-environmental factors in subjects with genetic predisposition. Its diagnosis is based on the presence of characteristic findings of high-resolution computed tomography scans and pulmonary biopsies in absence of interstitial lung diseases of other aetiologies. Its clinical evolution is variable, although the mean survival rate is 2-5 years as of its clinical presentation. Patients with idiopathic pulmonary fibrosis may present complications and comorbidities which modify the disease's clinical course and prognosis. In the mild-moderate disease, the treatment consists of the administration of anti-fibrotic drugs. In severe disease, the best therapeutic option is pulmonary transplantation. In this paper we review the diagnostic and therapeutic aspects of the disease.

  5. Idiopathic pain and depression.

    PubMed

    von Knorring, L; Ekselius, L

    1994-12-01

    This report summarizes research on the hypothesis that idiopathic chronic pain syndromes and depressive disorders share certain common pathogenetic mechanisms. There is increasing evidence that this may be partly true. Not only do chronic pain syndromes respond to treatment with antidepressants, but there are also striking clinical similarities between these syndromes and depressive syndromes. However, important differences do exist (e.g., the courses of these disorders are usually dissimilar). Family studies show that affective disorders are common in first-degree relatives of patients with idiopathic pain syndromes, but it is impossible to conclude from this that clear-cut genetic factors are of importance. Factors common to both syndromes include common personality traits, shortened rapid eye movements in sleep EEG, hypercortisolaemia and pathological dexamethasone suppression tests, low levels of melatonin in serum and urine and high levels of endorphins and Fraction I in cerebro-spinal fluid. One important common pathogenetic mechanism seems to be disturbances in the serotoninergic system.

  6. Epilepsy: A Disruptive Force in History.

    PubMed

    Ali, Rohaid; Connolly, Ian D; Feroze, Abdullah H; Awad, Ahmed J; Choudhri, Omar A; Grant, Gerald A

    2016-06-01

    Since it was first described in a Mesopotamian text in 2000 bc, countless individuals have offered their perspectives on epilepsy's cause, treatment, and even deeper spiritual significance. However, despite the attention the disease has received through the millennia, it has only been within the past half-century that truly effective treatment options have been available. As a result, for the vast majority of recorded history, individuals with epilepsy have not only had to deal with the uncertainty of their next epileptic seizure but also the concomitant stigma and ostracization. Interestingly, these individuals have included several prominent historical figures, including Julius Caesar, Vladimir Lenin, and Fyodor Dostoyevsky. The fact that epilepsy has appeared in the lives of influential historical people means that the disease has played some role in affecting the progress of human civilization. Epilepsy has cut short the lives of key political leaders, affected the output of talented cultural icons, and, especially within the past half century, influenced the collective understanding of neuroscience and the human nervous system. In this article, the authors review how epilepsy throughout history has manifested itself in the lives of prominent figures and how the disease has helped shape the course of humanity's political, cultural, and scientific evolution.

  7. [Drug resistant epilepsy. Clinical and neurobiological concepts].

    PubMed

    Espinosa-Jovel, Camilo A; Sobrino-Mejía, Fidel E

    2015-08-16

    Drug-resistant epilepsy, is a condition defined by the International League Against Epilepsy as persistent seizures despite having used at least two appropriate and adequate antiepileptic drug treatments. Approximately 20-30% of patients with epilepsy are going to be resistant to antiepileptic drugs, with different patterns of clinical presentation, which are related to the biological basis of this disease (de novo resistance, relapsing-remitting and progressive). Drug resistant epilepsy, impacts negatively the quality of life and significantly increases the risk of premature death. From the neurobiological point of view, this medical condition is the result of the interaction of multiple variables related to the underlying disease, drug interactions and proper genetic aspects of each patient. Thanks to advances in pharmacogenetics and molecular biology research, currently some hypotheses may explain the cause of this condition and promote the study of new therapeutic options. Currently, overexpression of membrane transporters such as P-glycoprotein, appears to be one of the most important mechanisms in the development of drug resistant epilepsy. The objective of this review is to deepen the general aspects of this clinical condition, addressing the definition, epidemiology, differential diagnosis and the pathophysiological bases.

  8. Poststroke epilepsy: update and future directions

    PubMed Central

    Zelano, Johan

    2016-01-01

    Stroke is among the most common causes of epilepsy after middle age. Patients with poststroke epilepsy (PSE) differ in several respects from patients with other forms of structural–metabolic epilepsy; not least in age, age-related sensitivity to side effects of antiepileptic drugs (AEDs), and specific drug–drug interaction issues related to secondary-stroke prophylaxis. Encouragingly, there has lately been remarkable activity in the study of PSE. Three developments in PSE research deserve particular focus. First, large prospective trials have established the incidence and risk factors of PSE in the setting of modern stroke care. Stroke severity, cortical location, young age, and haemorrhage remain the most important risk factors. Second, although more studies are needed, epidemiological data indicate that the risk of PSE may be influenced, for instance, by statin treatment. Third, studies are emerging regarding the treatment and prognosis of PSE. Levetiracetam and lamotrigine may be well tolerated treatment options and seizure freedom is achieved in at least a similar proportion of patients as in other epilepsies. Furthermore, new animal models such as photothrombotic stroke gives hope of a more clear understanding of PSE epileptogenesis in the near future. In summary, PSE shows indications of maturing into an independent epilepsy research field. This review summarizes recent advances in our understanding of PSE and provides an update on management issues such as diagnosis, AED selection, and prognosis. Finally, future research challenges in the field are outlined. PMID:27582897

  9. An idiopathic gigantomastia

    PubMed Central

    Cho, Min Jeng; Choi, Hyeon-Gon; Kim, Wan Seop; Yu, Yeong-Beom; Park, Kyoung Sik

    2015-01-01

    Gigantomastia is a rare condition characterized by excessive breast growth. It has been reported that the majority of gigantomastia cases occur during either pregnancy or puberty. We were presented with a rare case of gigantomastia associated with neither pregnancy nor puberty, and successfully treated it with reduction mammaplasty and free nipple graft. This idiopathic gigantomastia is the very first case in Korea, and adds to the worldwide total of 9 reported cases. PMID:25741497

  10. Heautoscopy, epilepsy, and suicide.

    PubMed Central

    Brugger, P; Agosti, R; Regard, M; Wieser, H G; Landis, T

    1994-01-01

    Heautoscopy (the doppelgänger experience), epilepsy, and suicide is a triad primarily known from literary accounts. This paper reports a patient with complex partial seizures who tried to commit suicide during the experience of heautoscopy. PMID:8021672

  11. Heautoscopy, epilepsy, and suicide.

    PubMed

    Brugger, P; Agosti, R; Regard, M; Wieser, H G; Landis, T

    1994-07-01

    Heautoscopy (the doppelgänger experience), epilepsy, and suicide is a triad primarily known from literary accounts. This paper reports a patient with complex partial seizures who tried to commit suicide during the experience of heautoscopy.

  12. Employees with Epilepsy

    MedlinePlus

    ... systems to communicate with coworkers Provide 2-way radios with texting options Use alert systems to send ... a seizure. JAN suggested using a two‑way radio. A student with epilepsy used hedge-cutters and ...

  13. Epilepsy and bipolar disorder.

    PubMed

    Knott, Sarah; Forty, Liz; Craddock, Nick; Thomas, Rhys H

    2015-11-01

    It is well recognized that mood disorders and epilepsy commonly co-occur. Despite this, our knowledge regarding the relationship between epilepsy and bipolar disorder is limited. Several shared features between the two disorders, such as their episodic nature and potential to run a chronic course, and the efficacy of some antiepileptic medications in the prophylaxis of both disorders, are often cited as evidence of possible shared underlying pathophysiology. The present paper aims to review the bidirectional associations between epilepsy and bipolar disorder, with a focus on epidemiological links, evidence for shared etiology, and the impact of these disorders on both the individual and wider society. Better recognition and understanding of these two complex disorders, along with an integrated clinical approach, are crucial for improved evaluation and management of comorbid epilepsy and mood disorders.

  14. Epilepsy - children - discharge

    MedlinePlus

    ... activities include jogging, aerobics, moderate cross-country skiing, dancing, tennis, golf, hiking, and bowling. Games and playing ... Philadelphia, PA: Elsevier; 2016:chap 593. Read More Brain aneurysm repair Brain surgery Epilepsy - overview Seizures Stereotactic ...

  15. Mesial frontal lobe epilepsy.

    PubMed

    Unnwongse, Kanjana; Wehner, Tim; Foldvary-Schaefer, Nancy

    2012-10-01

    Mesial frontal lobe epilepsies can be divided into epilepsies arising from the anterior cingulate gyrus and those of the supplementary sensorimotor area. They provide diagnostic challenges because they often lack lateralizing or localizing features on clinical semiology and interictal and ictal scalp electroencephalographic (EEG) recordings. A number of unique semiologic features have been described over the last decade in patients with mesial frontal lobe epilepsy (FLE). There are few reports of applying advanced neurophysiologic techniques such as electrical source imaging, magnetoencephalography, EEG/functional magnetic resonance imaging, or analysis of high-frequency oscillations in patients with mesial FLE. Despite these diagnostic challenges, it seems that patients with mesial FLE benefit from epilepsy surgery to the same extent or even better than patients with FLE do, as a whole.

  16. Comparing Mental Health of School-Age Children with and without Epilepsy

    PubMed Central

    SHAMSAEI, Farshid; CHERAGHI, Fatemeh; ZAMANI, Gholamreza

    2016-01-01

    Objective Mental health problems frequently occur in children with epilepsy but the diagnosis is frequently missed and therapeutic opportunities are often lost. The aim of this study was to compare mental health statues between school-aged children with epilepsy and the healthy group. Materials & Methods In this case, control study, 120 children aged 6 to 12 years with idiopathic epilepsy and 240 healthy control groups were followed up. Children with epilepsy were enrolled from Iranian Epilepsy Association in 2014. The parent version of Child Symptom Inventory-4 questionnaire was used. Mean comparisons were performed using Student’s t test while effect sizes were estimated by Cohen’s d coefficient. The Chi-Square test was used to assess the difference between frequency distribution of demographic variables in both groups. The significance level was considered less than 0.05. Results There were statistically significant differences between children with epilepsy and control group as for attention deficit hyperactivity disorder, generalized anxiety disorder, major depression, separation anxiety, social phobia, motor and vocal tics and oppositional defiant disorder. Conclusion The carefully evaluating and prospectively following the psychopathology symptom of children with epilepsy are critical for early identification, prevention and treatment. PMID:27375754

  17. Multiplex families with epilepsy

    PubMed Central

    Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

    2016-01-01

    Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

  18. Advances in epilepsy surgery

    PubMed Central

    Nowell, Mark; Miserocchi, Anna; McEvoy, Andrew W; Duncan, John S

    2014-01-01

    This review summarises exciting recent and forthcoming advances that will impact on the surgical management of epilepsy in the near future. This does not cover the current accepted diagnostic methodologies or surgical treatments that are routinely practiced today. The content of this review was derived from a PubMed literature search, using the key words ‘Epilepsy Surgery’, ‘Neuromodulation’, ‘Neuroablation’, ‘Advances’, between 2010 and November 2013. PMID:24719180

  19. An unknown quantity--the worldwide prevalence of epilepsy.

    PubMed

    Bell, Gail S; Neligan, Aidan; Sander, Josemir W

    2014-07-01

    The reported incidence (rate of new cases in a population) of epilepsy is consistently lower in high-income than in lower-income economies, whereas opinions vary regarding comparative prevalence rates (proportion of the population with epilepsy). For any condition that does not influence mortality, lifetime prevalence should approximate to the cumulative incidence. We suspected that epilepsy prevalence might be uniform throughout the world, whereas incidence is higher in resource-poor countries. To test whether our suspicion was reasonable, we conducted a Medline search to estimate the prevalence of active and lifetime epilepsy in different economic areas throughout the world. We found that the range of estimated prevalence of epilepsy may be broadly similar throughout the world, but comparison is limited by lack of door-to-door studies in high-income economies and by variations in the definitions of active epilepsy. We contend that any inconsistencies between incidence and prevalence are due largely to the excess premature death rate in people with epilepsy in lower-income economies. Much of the variability in epidemiologic indices arises from differences in study methodology, definitions, and risk factors. The epidemiology of epilepsy, and particularly its mortality, needs thorough investigation using uniform definitions that do not include antiepileptic drug use; causes of death should be identified and actions, including treatment and education, should be taken to avoid preventable deaths.

  20. Genetic Forms of Epilepsies and other Paroxysmal Disorders

    PubMed Central

    Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.

    2016-01-01

    Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505

  1. Dupuytren's disease in epilepsy: result of prolonged administration of anticonvulsants.

    PubMed Central

    Critchley, E M; Vakil, S D; Hayward, H W; Owen, V M

    1976-01-01

    In a study of chronic epileptics in a residential centre we recorded a 56% incidence of Dupuytren's disease. The lesions were usually bilateral and symmetrical and frequently associated with knuckle pads and plantar nodules. There was no direct relationship between Dupuytren's disease and frozen shoulder. Dupuytren's disease was seen equally in those with idiopathic or symptomatic epilepsy. The incidence increased with the duration of epilepsy and is probably a sequel to long-term administration of phenobarbitone. Reasons are given for presuming that the association between Dupuytren's disease and antiepileptic therapy is mediated through the peripheral stimulation of tissue growth factors and not through the central release of growth hormone or through alterations in liver metabolism. PMID:932769

  2. Theory of Mind in Patients with Epilepsy: a Systematic Review and Meta-analysis.

    PubMed

    Stewart, Elizabeth; Catroppa, Cathy; Lah, Suncica

    2016-03-01

    The ability to understand our own thoughts, intentions, beliefs and emotions and those of others (Theory of Mind; ToM) is a high-order social cognitive skill that is vital for social interaction and which has been found to be impaired in patients with epilepsy. Studies examining ToM in patients with epilepsy, however, have yielded inconsistent findings. The main aim of this study is to determine whether the magnitude of ToM deficits varies as a function of the site of epilepsy focus and/or the type of ToM task used. Electronic databases searches included Psychinfo, Medline/PubMed and EMBASE. Studies were included if they examined a group of patients with epilepsy and a group of healthy controls, reported original research, were published in the English language in peer reviewed journals, and used one of five empirically validated measures of ToM: False Belief, Reading the Mind in the Eyes Task (RMET), Faux-pas, Strange Stories, Cartoon ToM vignettes. Twelve studies were identified, ten included adults and two included children with epilepsy. Findings revealed marked ToM deficits in adults with focal seizures emanating from core brain regions underpinning ToM: temporal and frontal lobes (frontal lobe epilepsy, FLE; temporal lobe epilepsy, TLE), but not in adults with focal seizures outside the temporal and frontal lobes (extra-TLE/FLE). ToM deficits were also observed in children with generalised seizures (idiopathic generalised epilepsy, IGE). ToM deficits were documented across ToM tasks. In conclusion, ToM deficits represent a robust finding in adults with frontal and temporal epilepsy, but are also found in children with generalised seizures. Further research into ToM is needed, especially in children with epilepsy as early ToM may have cumulative, negative effects on development of social skills that continues into adulthood.

  3. Determinants of intelligence in childhood-onset epilepsy: a single-center study.

    PubMed

    Park, Jungmee; Yum, Mi-Sun; Choi, Hae-won; Kim, Eun Hee; Kim, Hyo Won; Ko, Tae-Sung

    2013-10-01

    The purpose of this study was to quantify the intelligence of children with epilepsy and to determine the clinical factors associated with intellectual impairment. The medical records of patients diagnosed with childhood-onset epilepsy at a single tertiary medical center in Korea between 2006 and 2011 were retrospectively reviewed. The Korean Education Development Institute-Wechsler Intelligence Scale for Children or Korean Wechsler Intelligence Scale for adults was used to quantify the level of intelligence. Age at seizure onset, etiology, epilepsy duration, number of seizures in the last year, use of antiepileptic drugs, EEG/MRI findings, and epilepsy classification were recorded. The association between clinical factors and the intelligence was determined using logistic regression. Three hundred and twenty-two patients were included in the analysis. One hundred and seventy-six (54.7%) patients had low intelligence (intelligence quotient [IQ]<80) with 18 (5.6%) defined as borderline mental retardation (IQ 70-79), 47 (14.6%) as mild mental retardation (IQ 60-69), and 111 (34.5%) as moderate-to-severe mental retardation (IQ<60). Epilepsy duration, number of seizures in the last year, and epilepsy classification were significantly associated with low intelligence in multivariate logistic regression (p<0.05). However, when analyzed according to etiology, these factors were not associated with low intelligence in children with idiopathic epilepsy. The most important factors associated with low intelligence in childhood-onset epilepsy are the underlying etiology and, in cryptogenic and symptomatic epilepsy, seizure burden. The results of this study underscore the importance of seizure control to alleviate the harmful impact of epilepsy on cognition.

  4. Epigenetics and epilepsy.

    PubMed

    Roopra, Avtar; Dingledine, Raymond; Hsieh, Jenny

    2012-12-01

    Seizures can give rise to enduring changes that reflect alterations in gene-expression patterns, intracellular and intercellular signaling, and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, repressor element 1-silencing transcription factor (REST), has received a lot of attention due to the possibility that it may control fundamental transcription patterns that drive circuit excitability, seizures, and epilepsy. REST represses a suite of genes in the nervous system by utilizing nuclear protein complexes that were originally identified as mediators of epigenetic inheritance. Epigenetics has traditionally referred to mechanisms that allow a heritable change in gene expression in the absence of DNA mutation. However a more contemporaneous definition acknowledges that many of the mechanisms used to perpetuate epigenetic traits in dividing cells are utilized by neurons to control activity-dependent gene expression. This review surveys what is currently understood about the role of epigenetic mechanisms in epilepsy. We discuss how REST controls gene expression to affect circuit excitability and neurogenesis in epilepsy. We also discuss how the repressor methyl-CpG-binding protein 2 (MeCP2) and activator cyclic AMP response element binding protein (CREB) regulate neuronal activity and are themselves controlled by activity. Finally we highlight possible future directions in the field of epigenetics and epilepsy.

  5. Epilepsy and homicide

    PubMed Central

    Pandya, Neil S; Vrbancic, Mirna; Ladino, Lady Diana; Téllez-Zenteno, José F

    2013-01-01

    Purpose We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy. Patients and methods We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides. Results We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility. Conclusion The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse. PMID:23700367

  6. Idiopathic noncirrhotic portal hypertension: current perspectives.

    PubMed

    Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d'Amati, Giulia

    2016-01-01

    The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis.

  7. Idiopathic noncirrhotic portal hypertension: current perspectives

    PubMed Central

    Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d’Amati, Giulia

    2016-01-01

    The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis. PMID:27555800

  8. Idiopathic pulmonary fibrosis: Early detection and referral

    PubMed Central

    Oldham, Justin M.; Noth, Imre

    2016-01-01

    Summary Idiopathic pulmonary fibrosis (IPF), a devastating progressive interstitial lung disease (ILD) with no known cause or cure, is the most common and deadly of the idiopathic interstitial pneumonias. With a median survival of 3–5 years following diagnosis, IPF is characterized by a progressive decline in lung function and quality of life in most patients. Vigilance among clinicians in recognizing IPF early in the disease course remains critical to properly caring for these patients, as this provides the widest range of management options. When IPF is suspected, a multidisciplinary evaluation (MDE) by a clinician, radiologist and pathologist with ILD expertise should occur, as this improves diagnostic agreement in both community and academic settings. When community MDE is not possible, or diagnostic doubt exists, referral to an ILD center should be considered. ILD center referral may also provide access specialized care, including clinical trials and lung transplantation, and should be considered for any patient with an established diagnosis of IPF. PMID:24746629

  9. Knowledge gaps and uncertainties about epilepsy: findings from an ethnographic study in China.

    PubMed

    Snape, D; Wang, W; Wu, J; Jacoby, A; Baker, G A

    2009-01-01

    Epilepsy represents one of the major brain disorders worldwide. In China, research into how much people with epilepsy know about their condition appears limited. Drawing on data collected as part of a large ethnographic study, we present the experiences and views of Chinese people with epilepsy and their family members, to identify knowledge gaps and uncertainties about epilepsy within selected urban and rural communities. We also examine how respondents' demographic characteristics influence their knowledge, understanding, and beliefs about epilepsy. We found knowledge and understanding of epilepsy to be uneven and context specific. Hereditary factors were most frequently cited as a potential cause, although their impact remained unclear. Western medicalization of epilepsy appears less evident in the reports of rural informants, where traditional beliefs continue to shape definitions and treatment. Societal differences within these communities set boundaries on knowledge acquisition. Plotted against these differences, we suggest strategies for proposed educational/psychosocial intervention programs.

  10. Implications for families of advances in understanding the genetic basis of epilepsy.

    PubMed

    Hammond, Carrie L; Thomas, Rhys H; Rees, Mark I; Kerr, Mike P; Rapport, Frances

    2010-12-01

    Investigations into families with a large number of individuals with epilepsy have led to the discovery of epilepsy-causing (or epilepsy associated) gene mutations. These discoveries offer advantages and insights for the patient, family, healthcare professionals and biomedical scientists. Despite these benefits, there is little evidence about the impact of participation in genetic research for families with epilepsy. Here we report on the reflections of individuals who have participated in epilepsy genetic research through the Wales Epilepsy Research Network (WERN). Undergoing genetic investigation for inherited epilepsy has extensive emotive impact, both positive and negative, on individuals and families. Recognising these impacts is imperative to researchers working with families; having implications for study design, research consent and the provision of appropriate support.

  11. 77 FR 59197 - Epilepsy Program

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-26

    ... HUMAN SERVICES Health Resources and Services Administration Epilepsy Program AGENCY: Health Resources... to the Epilepsy Foundation of America. SUMMARY: The Health Resources and Services Administration will be issuing noncompetitive supplemental funding under the Maternal and Child Health Bureau's...

  12. Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Yuhas, Jennifer; Cordeiro, Lisa; Tassone, Flora; Ballinger, Elizabeth; Schneider, Andrea; Long, James M.; Ornitz, Edward M.; Hessl, David

    2011-01-01

    Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to…

  13. The challenges of managing children with epilepsy in Africa.

    PubMed

    Wilmshurst, Jo M; Kakooza-Mwesige, Angelina; Newton, Charles R

    2014-03-01

    Children with epilepsy who reside in the African continent are faced with some of the greatest challenges of receiving adequate care. The burden of disease is exacerbated by the high incidence of acquired causes and the large treatment gap. Skilled teams to identify and care for children with epilepsy are lacking. Many patients are managed through psychiatric services, thus potentially compounding the stigma associated with the condition. Little data exist to assess the true proportion of comorbidities suffered by children with epilepsy, the assumption is that this is high, further aggravated by delayed interventions and adverse responses to some of the more commonly used antiepileptic drugs.

  14. The burden of premature mortality of epilepsy in high-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

    PubMed

    Thurman, David J; Logroscino, Giancarlo; Beghi, Ettore; Hauser, W Allen; Hesdorffer, Dale C; Newton, Charles R; Scorza, Fulvio Alexandre; Sander, Josemir W; Tomson, Torbjörn

    2017-01-01

    Since previous reviews of epidemiologic studies of premature mortality among people with epilepsy were completed several years ago, a large body of new evidence about this subject has been published. We aim to update prior reviews of mortality in epilepsy and to reevaluate and quantify the risks, potential risk factors, and causes of these deaths. We systematically searched the Medline and Embase databases to identify published reports describing mortality risks in cohorts and populations of people with epilepsy. We reviewed relevant reports and applied criteria to identify those studies likely to accurately quantify these risks in representative populations. From these we extracted and summarized the reported data. All population-based studies reported an increased risk of premature mortality among people with epilepsy compared to general populations. Standard mortality ratios are especially high among people with epilepsy aged <50 years, among those whose epilepsy is categorized as structural/metabolic, those whose seizures do not fully remit under treatment, and those with convulsive seizures. Among deaths directly attributable to epilepsy or seizures, important immediate causes include sudden unexpected death in epilepsy (SUDEP), status epilepticus, unintentional injuries, and suicide. Epilepsy-associated premature mortality imposes a significant public health burden, and many of the specific causes of death are potentially preventable. These require increased attention from healthcare providers, researchers, and public health professionals.

  15. Idiopathic granulomatous orchitis.

    PubMed

    Roy, Somak; Hooda, Shveta; Parwani, Anil V

    2011-05-15

    Idiopathic granulomatous orchitis is a rare inflammatory process of the testis of unknown etiology. It is characterized by presence of non-specific granulomatous inflammation and admixed multinucleated giant cells. It usually presents as a testicular mass which is highly suspicious of malignancy. Histologically, there is extensive destruction of seminiferous tubules with tubular or interstitial pattern of granulomatous inflammation and prominent collagen fibrosis. Trauma and possible auto-antibodies against sperms have been postulated to be the underlying mechanism. Differential diagnoses include intratubular germ-cell neoplasia, malignant lymphomas, and malakoplakia. Orchiectomy is currently the most appropriate therapy for this condition.

  16. Epilepsy and physical exercise.

    PubMed

    Pimentel, José; Tojal, Raquel; Morgado, Joana

    2015-02-01

    Epilepsy is one of the commonest neurologic diseases and has always been associated with stigma. In the interest of safety, the activities of persons with epilepsy (PWE) are often restricted. In keeping with this, physical exercise has often been discouraged. The precise nature of a person's seizures (or whether seizures were provoked or unprovoked) may not have been considered. Although there has been a change in attitude over the last few decades, the exact role of exercise in inducing seizures or aggravating epilepsy still remains a matter of discussion among experts in the field. Based mainly on retrospective, but also on prospective, population and animal-based research, the hypothesis that physical exercise is prejudicial has been slowly replaced by the realization that physical exercise might actually be beneficial for PWE. The benefits are related to improvement of physical and mental health parameters and social integration and reduction in markers of stress, epileptiform activity and the number of seizures. Nowadays, the general consensus is that there should be no restrictions to the practice of physical exercise in people with controlled epilepsy, except for scuba diving, skydiving and other sports at heights. Whilst broader restrictions apply for patients with uncontrolled epilepsy, individual risk assessments taking into account the seizure types, frequency, patterns or triggers may allow PWE to enjoy a wide range of physical activities.

  17. Current controversies in the relationships between autism and epilepsy.

    PubMed

    Besag, Frank M C

    2015-06-01

    The controversies that have arisen in endeavoring to establish the nature of the relationships between autism and epilepsy might be summarized in a few simple questions, most of which do not yet have clear, complete answers. Does epilepsy cause autism? Does autism cause epilepsy? Are there underlying brain mechanisms that predispose to both conditions? What is the role of genetics in this regard? What is the importance of prenatal, perinatal, and postnatal environmental factors? Do any of the proposed relationships between autism and epilepsy provide insight into useful management or treatment? Is the prognosis of either autism or epilepsy different when the other condition is also present? What is the role of additional comorbidities, such as intellectual impairment or attention deficit hyperactivity disorder, in the relationship between the two conditions and in influencing treatment choices? From the evidence currently available, it would appear that epilepsy can rarely be the cause of autistic features but is not the cause of autism in most cases. There is currently no credible mechanism for suggesting that autism might cause epilepsy. There is strong evidence for an underlying predisposition for both conditions, particularly arising from genetic investigations. However, many issues remain unresolved. Considering the amount of research that has been published in this area, it is surprising that so few definitive answers have been established. The papers in this issue's special section provide additional insights into the relationships between autism and epilepsy; while they do not provide answers to all the questions, they represent considerable progress in this area and, at the very least, give some strong indication of what research might, in the future, provide such answers.

  18. The Role of Neurosteroids in the Pathophysiology and Treatment of Catamenial Epilepsy

    PubMed Central

    Reddy, Doodipala Samba

    2009-01-01

    SUMMARY Catamenial epilepsy is a multifaceted neuroendocrine condition in which seizures are clustered around specific points in the menstrual cycle, most often around perimenstrual or periovulatory period. Generally, a two-fold or greater increase in seizure frequency during a particular phase of the menstrual cycle could be considered as catamenial epilepsy. Based on this criteria, recent clinical studies indicate that catamenial epilepsy affects 31 – 60% of the women with epilepsy. Three types of catamenial seizures (perimenstrual, periovulatory and inadequate luteal) have been identified. However, there is no specific drug available today for catamenial epilepsy, which has not been successfully treated with conventional antiepileptic drugs. Elucidation of the pathophysiology of catamenial epilepsy is a prerequisite to develop specific targeted approaches for treatment or prevention of the disorder. Cyclical changes in the circulating levels of estrogens and progesterone play a central role in the development of catamenial epilepsy. There is emerging evidence that endogenous neurosteroids with anticonvulsant or proconvulsant effects could play a critical role in catamenial epilepsy. It is thought that perimenstrual catamenial epilepsy is associated with the withdrawal of anticonvulsant neurosteroids. Progesterone and other hormonal agents have been shown in limited trials to be moderately effective in catamenial epilepsy, but may cause endocrine side effects. Synthetic neurosteroids, which enhance the tonic GABA-A receptor function, might provide an effective approach for the catamenial epilepsy therapy without producing hormonal side effects. PMID:19406620

  19. New therapeutic opportunities in epilepsy: a genetic perspective.

    PubMed

    Reid, Christopher A; Jackson, Graeme D; Berkovic, Samuel F; Petrou, Steven

    2010-11-01

    Epilepsy is a common and serious neurological disorder. Despite recent advances in drug therapy, treatment for epilepsy is still largely empirical and rational prescribing based on the mechanism of action in an individual patient is generally not possible. Genetic studies have identified an increasing collection of disease-causing genes providing a fundamental molecular foundation on which to build this understanding, at least for some forms of epilepsy. The impact of these genetic discoveries is likely to be wide reaching-from the discovery and validation of new drug targets to the potential to enable rational prescribing based on genetic makeup and even further through animal experimentation to tease out molecular and cellular mechanisms that lead to hyperexcitable neuronal networks causing epilepsy. Here we discuss how we can use knowledge of genetic mechanisms to improve treatment strategies now and into the future.

  20. Epilepsy, Psychogenic Seizure, Trauma in the Developmental Process

    PubMed Central

    ALYANAK, Behiye

    2013-01-01

    An epileptic seizure, can cause trauma for its sudden emergence, leading to functional impairment, accidents and injuries, and fear of death. The seizure can be traumatizing itself, besides, an head trauma that may occur during the seizure can also cause epilepsy. As the severity and duration of epilepsy increases, disturbances in development and traumatic effects occur. Conversion (psychogenic) seizures may be added over the years in epileptic patients. The comorbidity of trauma-related dissociative disorder and psychogenic seizures is observed in approximately half of the cases. Dissociative disorders are known to occur in children with chronic diseases due to the traumatic effect of the disease. Conversion disorder and psychogenic seizures are frequently seen in dissociative disorders. Posttraumatic stress disorder, dissociative disorders, and psychogenic seizures are often comorbid diagnoses in epilepsy. For this reason, traumatic effect and associated dissociative disorder dimension should be kept in mind in the psychiatric approach when handling with cases of epilepsy.

  1. Neuropeptide Y and Epilepsy

    PubMed Central

    Colmers, William F.; El Bahh, Bouchaïb

    2003-01-01

    It is a central tenet of the epilepsy field that seizures result from the imbalance of excitation over inhibition 1. The bulk of excitation is mediated by the neurotransmitter glutamate, whereas inhibition results mainly from the actions of γ-aminobutyric acid (GABA). In the neocortex and hippocampus, the intrinsic sources of GABA are the interneurons, which lately have come under intense scrutiny. It has become clear that a large number of distinct types of interneurons can be differentiated in part by the array of neuropeptides they coexpress (cf. 2). Evidence is emerging that the neuropeptide complement of interneurons plays important roles in the way that interneurons regulate excitability. Here we discuss what is known about the relation of one well-characterized neuropeptide, neuropeptide Y (NPY), and epilepsy in experimental animals and humans, and suggest possible roles for the receptors as targets for the control of excessive excitation in epilepsy. PMID:15309085

  2. [Antidepressants in epilepsy].

    PubMed

    Castaño-Monsalve, Beatriz

    2013-08-01

    Depression is a common condition in patients with epilepsy that entails a deterioration of the quality of life of this population and that, therefore, requires appropriate treatment. The potential risk of antidepressants in relation to the seizure threshold is overestimated by many professionals, and this has an influence when it comes to making the decision to treat them. It sometimes means that the patients do not receive antidepressant drugs. In this regard, the aim of this review is to present the current state of the art in terms of the safety of antidepressants in patients with epilepsy. A search of the medical literature was conducted and, following its analysis, the most significant results are presented. Current information indicates that most antidepressants are safe for epileptic patients at therapeutic doses and that the risk of seizures occurs mainly in cases of overdose. Preferred drugs for treating depression in epilepsy are serotonin reuptake inhibitors. Bupropion and tricyclic antidepressants must be avoided.

  3. Medical Marijuana for Epilepsy?

    PubMed Central

    Kolikonda, Murali K.; Srinivasan, Kavitha; Enja, Manasa; Sagi, Vishwanath

    2016-01-01

    Treatment-refractory epilepsy remains an important clinical problem. There is considerable recent interest by the public and physicians in using medical marijuana or its derivatives to treat seizures. The endocannabinoid system has a role in neuronal balance and ictal control. There is clinical evidence of success in diminishing seizure frequencies with cannabis derivatives, but also documentation about exacerbating epilepsy or of no discernible effect. There are lay indications and anecdotal reports of success in attenuating the severity of epilepsy, but without solid investigational corroboration. Marijuana remains largely illegal, and may induce adverse consequences. Clinical applications are not approved, thus are restricted and only recommended in selected treatment unresponsive cases, with appropriate monitoring. PMID:27354925

  4. Neuroimaging of epilepsy

    PubMed Central

    Cendes, Fernando; Theodore, William H.; Brinkmann, Benjamin H.; Sulc, Vlastimil; Cascino, Gregory D.

    2017-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. PMID:27430454

  5. Computer modeling of Epilepsy

    PubMed Central

    Lytton, William W.

    2009-01-01

    Preface Epilepsy is a complex set of disorders that can involve many areas of cortex as well as underlying deep brain systems. The myriad manifestations of seizures, as varied as déjà vu and olfactory hallucination, can thereby give researchers insights into regional functions and relations. Epilepsy is also complex genetically and pathophysiologically, involving microscopic (ion channels, synaptic proteins), macroscopic (brain trauma and rewiring) and intermediate changes in a complex interplay of causality. It has long been recognized that computer modeling will be required to disentangle causality, to better understand seizure spread and to understand and eventually predict treatment efficacy. Over the past few years, substantial progress has been made modeling epilepsy at levels ranging from the molecular to the socioeconomic. We review these efforts and connect them to the medical goals of understanding and treating this disorder. PMID:18594562

  6. Adolescent Idiopathic Scoliosis

    PubMed Central

    Choudhry, Muhammad Naghman; Ahmad, Zafar; Verma, Rajat

    2016-01-01

    Background: Scoliosis refers to deviation of spine greater than 10 degrees in the coronal plane. Idiopathic Scoliosis is the most common spinal deformity that develops in otherwise healthy children. The sub types of scoliosis are based on the age of the child at presentation. Adolescent idiopathic scoliosis (AIS) by definition occurs in children over the age of 10 years until skeletal maturity. Objective: The objective of this review is to outline the features of AIS to allow the physician to recognise this condition and commence early treatment, thereby optimizing patient outcome. Method: A thorough literature search was performed using available databases, including Pubmed and Embase, to cover important research published covering AIS. Conclusion: AIS results in higher incidence of back pain and discontent with body image. Curves greater than 50 degrees in thoracic region and greater than 30 degrees in lumbar region progress at a rate of 0.5 to 1 degree per year into adulthood. Curves greater than 60 degrees can lead to pulmonary functional deficit. Therefore once the disease is recognized, effective treatment should be instituted to address the deformity and prevention of its long-term sequelae. PMID:27347243

  7. Bone Disease and Idiopathic Hypercalciuria

    PubMed Central

    Zerwekh, Joseph E.

    2008-01-01

    Observational and epidemiological studies alike have demonstrated that idiopathic hypercalciuric (IH) stone-forming patients typically demonstrate bone mineral density scores significantly less than those observed for age- and gender-matched normal subjects or those for non-hypercalciuric stone-forming patients. Most of these studies have relied on changes in bone mineral density (BMD) and have not explored the mechanism(s) involved. There have been a small number of studies that have relied on dynamic bone histomorphometry to ascertain the nature of the bone defect in IH patients. When performed, these studies have clearly demonstrated increased bone resorption and high bone turnover in patients with fasting hypercalciuria while suppressed bone formation indices are the most consistent finding in patients with the absorptive variant of IH. The causes of this apparent difference in bone remodeling between the two variants of IH is still uncertain. Available evidence suggests that potential mechanisms may be dependent in large part to genetic, metabolic, and nutritional causes of hypercalciuria and bone loss in patients with IH. PMID:18359394

  8. Epilepsy in dental practice.

    PubMed

    Fitzpatrick, J J; McArdle, N S; Wilson, M H; Stassen, L F A

    2008-01-01

    Epilepsy is a neurological condition characterised by seizure activity. It has an approximate incidence of 1%. General dental practitioners will encounter these patients in practice. This article discusses the types of epilepsy, the medical management and considerations in dental management of epileptic patients. General recommendations are made, based on current evidence, with respect to prescribing of medications. The management of an epileptic seizure is discussed. Status epilepticus is a rare but serious complication of epileptic seizures. An easy-to-follow algorithm is provided to assist the practitioner in managing seizures.

  9. [Injuries, accidents and mortality in epilepsy: a review of its prevalence risk factors and prevention].

    PubMed

    Téllez-Zenteno, José Francisco; Nguyen, Rita; Hernádez-Ronquillo, Lizbeth

    2010-01-01

    Currently, there is intense clinical research into various aspects of the medical risks relating to epilepsy, including total and cause-specific mortality, accidents and injuries in patients with epilepsy and mortality related with seizures. Submersion injuries, motor vehicle accidents, burns, and head injuries are among the most feared epilepsy-related injuries. Published risk factors for injuries include the number of antiepileptic drugs, history of generalized seizures, and seizure frequency. In general, studies focusing on populations with more severe forms of epilepsy tend to report substantially higher risks of injuries than those involving less selected populations. On the other hand, studies based in non selected populations of people with epilepsy have not shown an increase frequency of injuries in people with epilepsy compared with the general population. Some studies have shown that patients with epilepsy are more frequently admitted to the hospital following an injury. Possible explanations include are more cautious attitude of clinicians toward injuries occurring in the setting of seizures; hospitalization required because of seizures and not to the injuries themselves; and hospitalization driven by other issues, such as comorbidities, which are highly prevalent in patients with epilepsy. This article reviews information about specific type of injuries such as fractures, burns, concussions, dislocations, etc. Finally this article review in a comprehensive way information of mortality in patients with epilepsy. Aspects of mortality discussed in this review are: epidemiology, causes of mortality, sudden death in epilepsy and prevention measures.

  10. Approach to the patient with epilepsy in the outpatient department

    PubMed Central

    Hadjikoutis, S; Smith, P

    2005-01-01

    Epilepsy is common and serious (prevalence 750 per 100 000) and has an impact upon employment, education, and driving. The diagnosis requires a detailed history including witness account. Clinicians must distinguish seizures particularly from syncope and psychogenic attacks. Electroencephalography and magnetic resonance brain scanning help to identify causes and classification of epilepsy, but alone rarely provide the diagnosis. Antiepileptic drug treatment is required long term and is potentially hazardous; patients should start treatment only after informed discussion with an epilepsy specialist. Patients require reliable written information, particularly the driving regulations, and the impact of seizures on employment, education, and leisure. Women must understand the potential drug teratogenic effects. Certain patient groups benefit from targeted epilepsy services, for example, learning disabled, children, teenagers, and elderly. People with epilepsy require long term specialist follow up. Although this is currently provided in mainly in secondary care (including nurse led clinics), improved liaison with primary care should enable improved access to epilepsy services. Epilepsy care should be multidisciplinary and long term, linking primary and secondary care, and empowering patients towards improved management of their condition. PMID:15998820

  11. Hyperphosphorylated tau is implicated in acquired epilepsy and neuropsychiatric comorbidities.

    PubMed

    Zheng, Ping; Shultz, Sandy R; Hovens, Chris M; Velakoulis, Dennis; Jones, Nigel C; O'Brien, Terence J

    2014-06-01

    Epilepsy is a common group of neurological diseases. Acquired epilepsy can be caused by brain insults, such as trauma, infection or tumour, and followed by a latent period from several months to years before the emergence of recurrent spontaneous seizures. More than 50% of epilepsy cases will develop chronic neurodegenerative, neurocognitive and neuropsychiatric comorbidities. It is important to understand the mechanisms by which a brain insult results in acquired epilepsy and comorbidities in order to identify targets for novel therapeutic interventions that may mitigate these outcomes. Recent studies have implicated the hyperphosphorylated tubulin-associated protein (tau) in rodent models of epilepsy and Alzheimer's disease, and in experimental and clinical studies of traumatic brain injury. This potentially represents a novel target to mitigate epilepsy and associated neurocognitive and psychiatric disorders post-brain injury. This article reviews the potential role of tau-based mechanisms in the pathophysiology of acquired epilepsy and its neurocognitive and neuropsychiatric comorbidities, and the potential to target these for novel disease-modifying treatments.

  12. The role of radionuclide imaging in epilepsy, part 2: epilepsy syndromes.

    PubMed

    Kumar, Ajay; Chugani, Harry T

    2013-11-01

    PET and SPECT can play an important role in the evaluation of various epileptic syndromes, particularly those with unknown causes, by revealing various underlying abnormalities that may not be fully appreciated from MR imaging studies. In some cases, PET and SPECT provide crucial data that guide surgical resections of the epileptogenic zone for medically refractory epilepsy. In other cases, these neuroimaging modalities preclude a surgical option and can guide genetic studies. Longitudinal PET and SPECT studies may increase our understanding of the etiopathogenesis of epilepsy syndromes and provide a clearer picture of the natural history of neurologic progression.

  13. The Role of Radionuclide Imaging in Epilepsy, Part 2: Epilepsy Syndromes.

    PubMed

    Kumar, Ajay; Chugani, Harry T

    2017-03-01

    PET and SPECT can play an important role in the evaluation of various epileptic syndromes, particularly those with unknown causes, by revealing various underlying abnormalities that may not be fully appreciated from MR imaging studies. In some cases, PET and SPECT provide crucial data that guide surgical resections of the epileptogenic zone for medically refractory epilepsy. In other cases, these neuroimaging modalities preclude a surgical option and can guide genetic studies. Longitudinal PET and SPECT studies may increase our understanding of the etiopathogenesis of epilepsy syndromes and provide a clearer picture of the natural history of neurologic progression.

  14. Brain Tumor-Related Epilepsy

    PubMed Central

    Maschio, Marta

    2012-01-01

    In patients with brain tumor (BT), seizures are the onset symptom in 20-40% of patients, while a further 20-45% of patients will present them during the course of the disease. These patients present a complex therapeutic profile and require a unique and multidisciplinary approach. The choice of antiepileptic drugs is challenging for this particular patient population because brain tumor-related epilepsy (BTRE) is often drug-resistant, has a strong impact on the quality of life and weighs heavily on public health expenditures. In BT patients, the presence of epilepsy is considered the most important risk factor for long-term disability. For this reason, the problem of the proper administration of medications and their potential side effects is of great importance, because good seizure control can significantly improve the patient’s psychological and relational sphere. In these patients, new generation drugs such as gabapentin, lacosamide, levetiracetam, oxcarbazepine, pregabalin, topiramate, zonisamide are preferred because they have fewer drug interactions and cause fewer side effects. Among the recently marketed drugs, lacosamide has demonstrated promising results and should be considered a possible treatment option. Therefore, it is necessary to develop a customized treatment plan for each individual patient with BTRE. This requires a vision of patient management concerned not only with medical therapies (pharmacological, surgical, radiological, etc.) but also with emotional and psychological support for the individual as well as his or her family throughout all stages of the illness. PMID:23204982

  15. Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

    PubMed

    Dhindsa, Ryan S; Goldstein, David B

    2015-10-01

    Epilepsy is a serious neurological disease with substantial genetic contribution. We have recently made major advances in understanding the genetics and etiology of the epilepsies. However, current antiepileptic drugs are ineffective in nearly one third of patients. Most of these drugs were developed without knowledge of the underlying causes of the epilepsy to be treated; thus, it seems reasonable to assume that further improvements require a deeper understanding of epilepsy pathophysiology. Although once the rate-limiting step, gene discovery is now occurring at an unprecedented rapid rate, especially in the epileptic encephalopathies. However, to place these genetic findings in a biological context and discover treatment options for patients, we must focus on developing an efficient framework for functional evaluation of the mutations that cause epilepsy. In this review, we discuss guidelines for gene discovery, emerging functional assays and models, and novel therapeutics to highlight the developing framework of precision medicine in the epilepsies.

  16. Safety of tianeptine use in patients with epilepsy.

    PubMed

    Moon, Jangsup; Jung, Keun-Hwa; Shin, Jung-Won; Lim, Jung-Ah; Byun, Jung-Ick; Lee, Soon-Tae; Chu, Kon; Lee, Sang Kun

    2014-05-01

    Depression is a frequent comorbidity in patients with epilepsy (PWE). However, it is often undertreated because of concerns of seizure exacerbation by antidepressant treatment. The effect of tianeptine on seizure frequency is not known as yet. Thus, we aimed to evaluate the influence of tianeptine on the seizure frequency in PWE. We retrospectively reviewed the medical records of PWE who received tianeptine between January 2006 and June 2013 at the Epilepsy Center of Seoul National University Hospital. Patients were excluded if the dose or type of antiepileptic drugs (AEDs) they took was altered at the start of tianeptine treatment or if the treatment period of tianeptine was <3 months. A total of 74 PWE were enrolled in our study (male: 32, mean age: 41.9±14.5). Sixty-nine patients had localization-related epilepsy, and 5 had idiopathic generalized epilepsy (IGE). Mean seizure frequency during the 3-month period just after tianeptine exposure was compared with the baseline seizure frequency, which showed no change in 69 (93.2%) patients, decrease in 2 (2.7%) patients, and increase in 3 patients (4.1%). The type of epileptic syndrome, the baseline seizure frequency, and the number of coadministered AEDs did not influence the change in seizure frequency after tianeptine prescription. Change in seizure frequency did not differ between the patients given tianeptine as an additive antidepressant and those given tianeptine as a replacement antidepressant. Our data suggest that tianeptine can be prescribed safely to PWE with depression without increasing the seizure frequency regardless of the baseline severity of epilepsy. Tianeptine may be actively considered as a first-choice antidepressant or as an alternative antidepressant in PWE with depression.

  17. Characteristics of a large population of patients with refractory epilepsy attending tertiary referral centers in Italy.

    PubMed

    Alexandre, Veriano; Capovilla, Giuseppe; Fattore, Cinzia; Franco, Valentina; Gambardella, Antonio; Guerrini, Renzo; La Briola, Francesca; Ladogana, Marianna; Rosati, Eleonora; Specchio, Luigi Maria; Striano, Salvatore; Perucca, Emilio

    2010-05-01

    The characteristics of 1,124 consecutive adults and children with refractory epilepsy attending 11 tertiary referral centers in Italy were investigated at enrollment into a prospective observational study. Among 933 adults (age 16-86 years), the most common syndromes were symptomatic (43.7%) and cryptogenic (39.0%) focal epilepsies, followed by idiopathic (8.1%) and cryptogenic/symptomatic generalized (6.2%) epilepsies. The most common syndrome among 191 children was symptomatic focal epilepsy (35.1%), followed by cryptogenic focal (18.8%), cryptogenic/symptomatic generalized (18.3%), undetermined whether focal or generalized (16.8%), and idiopathic generalized (7.3%). Primarily and secondarily generalized tonic-clonic seizures were reported in 27.8% of adults and 16.8% of children. The most commonly reported etiologies were mesial temporal sclerosis (8.0%) and disorders of cortical development (6.2%) in adults, and disorders of cortical development (14.7%) and nonprogressive encephalopathies (6.8%) in children. More than three-fourths of subjects in both age groups were on antiepileptic drug (AED) polytherapy.

  18. ADHD and epilepsy: contributions from the use of behavioral rating scales to investigate psychiatric comorbidities.

    PubMed

    Loutfi, Karina Soares; Carvalho, Alysson Massote; Lamounier, Joel Alves; Nascimento, Jane de Almeida

    2011-03-01

    Children with epilepsy have a high incidence of psychiatric comorbidities, especially attention-deficit/hyperactivity disorder (ADHD). This observational cross-sectional study investigated the presence of ADHD in 30 children with idiopathic epilepsy. The Brazilian versions of the Child Behavior Checklist (CBCL), the Teacher Report Form (TRF), and the MTA-SNAP-IV questionnaire were used to assess comorbid psychiatric conditions. ADHD diagnosis was confirmed in 53.3% of children. The combined type was the most prevalent (43.7%), followed by the hyperactive-impulsive (37.5%) and inattentive (18.7%) types. Scores above the cutoff point on these scales were strongly correlated with the presence of ADHD. The high prevalence of ADHD in association with other psychiatric comorbidities in children with epilepsy justifies the use of behavioral rating scales as screening tests.

  19. Epilepsy, behavior, and art (Epilepsy, Brain, and Mind, part 1).

    PubMed

    Rektor, Ivan; Schachter, Steven C; Arzy, Shahar; Baloyannis, Stavros J; Bazil, Carl; Brázdil, Milan; Engel, Jerome; Helmstaedter, Gerhard; Hesdorffer, Dale C; Jones-Gotman, Marilyn; Kesner, Ladislav; Komárek, Vladimír; Krämer, Günter; Leppik, Ilo E; Mann, Michael W; Mula, Marco; Risse, Gail L; Stoker, Guy W; Kasteleijn-Nolst Trenité, Dorothée G A; Trimble, Michael; Tyrliková, Ivana; Korczyn, Amos D

    2013-08-01

    Epilepsy is both a disease of the brain and the mind. Brain diseases, structural and/or functional, underlie the appearance of epilepsy, but the notion of epilepsy is larger and cannot be reduced exclusively to the brain. We can therefore look at epilepsy from two angles. The first perspective is intrinsic: the etiology and pathophysiology, problems of therapy, impact on the brain networks, and the "mind" aspects of brain functions - cognitive, emotional, and affective. The second perspective is extrinsic: the social interactions of the person with epilepsy, the influence of the surrounding environment, and the influences of epilepsy on society. All these aspects reaching far beyond the pure biological nature of epilepsy have been the topics of two International Congresses of Epilepsy, Brain, and Mind that were held in Prague, Czech Republic, in 2010 and 2012 (the third Congress will be held in Brno, Czech Republic on April 3-5, 2014; www.epilepsy-brain-mind2014.eu). Here, we present the first of two papers with extended summaries of selected presentations of the 2012 Congress that focused on epilepsy, behavior, and art.

  20. Diagnostic challenges in the evaluation of chronic epilepsy-related surgical neuropathology.

    PubMed

    Prayson, Richard A

    2010-05-01

    For patients with pharmacoresistent epilepsy, surgical excision is often an effective means of controlling and sometimes curing the seizures. Excised tissue frequently provides information regarding the precise etiology of the epilepsy. This review examines some of the more commonly encountered pathologies encountered in the neuropathology arena in this clinical venue. The most common identifiable causes of chronic epilepsy including low-grade tumors, hippocampal sclerosis, malformation of cortical development (cortical dysplasia), and remote infarcts will be discussed. Differential diagnostic difficulties will be examined.

  1. Sudden unexpected death in epilepsy: Evaluation of forensic autopsy cases.

    PubMed

    Zhuo, Luo; Zhang, Yang; Zielke, H Ronald; Levine, Barry; Zhang, Xiang; Chang, Lin; Fowler, David; Li, Ling

    2012-11-30

    Epilepsy is a common chronic neurological disorder characterized by seizures. Mortality is significantly increased in patients with epilepsy. Sudden unexpected death in epilepsy (SUDEP) is the most common seizure-related category of death. A retrospective study of forensic autopsy cases from 2007 to 2009 at the Office of the Chief Medical Examiner (OCME) yielded a total of 104 sudden unexpected deaths directly or indirectly caused by an epilepsy/seizure disorder in the State of Maryland. Of these deaths, 74 cases met a general accepted definition of SUDEP. The age of SUDEP individuals ranged from 14 to 63 with the majority of subjects in the ages between 21 and 50 years (58 cases, 78.4%). Males were slightly more likely than females to die of SUDEP (male:female=1.5:1 based on the rate). The onset age of epilepsy was documented in 47.3% of cases (35/74) based on investigation and medical records. Of the 35 cases, 12 subjects had early onset epilepsy (onset ages 1-15 years) and 20 subjects had duration of epilepsy for more than 10 years. The majority of deaths (61 of the 74 cases, 82.4%) were unwitnessed. Death scene investigation showed that 71 deaths (95.9%) occurred inside their residence with 50 subjects (70.4%) found either in bed or on the bedroom floor near the bed. Forty-three out of 74 cases (58.1%) showed neuropathological lesions. Per history, 50 subjects were reported as being on anti-epileptic drugs (AEDs). However, postmortem toxicological analysis revealed that only 26 subjects (35.1%) had detectable AEDs. Of the 74 cases, seizure disorder or epilepsy was listed as primary cause of death in 66 cases and the term of SUDEP as official cause of death in only 8 cases. This report focuses on the characteristics of death scene investigation and postmortem examination findings of SUDEP cases.

  2. Traditional and spiritual medicine among Sudanese children with epilepsy

    PubMed Central

    Babikir, Haydar E

    2013-01-01

    This cross sectional hospital based study, carried out simultaneously in Khartoum and in Wad Madani, Al Gezira State, aimed to study the impact of spiritual beliefs on explanation of the epilepsy etiology and the choices and methods of spiritual and traditional medicine used in the management of epilepsy in Sudan. The study included 180 care givers of whom 165 (91.7%) were mothers. Their ages ranged between 30–40 years. The majority (88.8%) were educated and 60 (33.3%) of them live in rural areas. Fifty eight (32.2%) attributed epilepsy to supernatural causes while 41 (22.8%) and 90 (50%) thought that epilepsy is an untreatable and contagious disorder, respectively. Traditional and spiritual medicine for the treatment of epilepsy was used by 70.5%. The common spiritual technique used was incantations (45.6%), spitting cure (37.2%) and ritual incensing (36.7%). Herbs, black cumin (Nigella sativa), honey and olive oil were mentioned among others as a traditional treatment for epilepsy. About two fifth (42.5%) started traditional or spiritual treatment before seeking any medical advice. Nevertheless, only 2.4% stopped the medical treatment as advised by the traditional healer. Fifty five (43.3%) thought that spiritual and/ or traditional treatment were effective in the management of epilepsy, 60(47.2%) found no difference while 12(9.45) got worse. The majority of patients with epilepsy, although on medical treatment, used traditional and spiritual methods as well. Traditional and spiritual healers may be involved positively in the management of epilepsy and extensive public educational programs are needed. PMID:27493355

  3. Levetiracetam in Absence Epilepsy

    ERIC Educational Resources Information Center

    Verrotti, Alberto; Cerminara, Caterina; Domizio, Sergio; Mohn, Angelika; Franzoni, Emilio; Coppola, Giangennaro; Zamponi, Nelia; Parisi, Pasquale; Iannetti, Paola; Curatolo, Paolo

    2008-01-01

    The aim of the study was to assess the efficacy, tolerability, and safety of levetiracetam therapy in children and adolescents with absence epilepsy. Twenty-one participants (11 male, 10 female) with typical absence seizures were enrolled in this prospective study from seven centres in Italy. The mean age and age range at time of enrolment into…

  4. Idiopathic Normal Pressure Hydrocephalus

    PubMed Central

    Nassar, Basant R.; Lippa, Carol F.

    2016-01-01

    Idiopathic normal pressure hydrocephalus (iNPH) is a potentially reversible neurodegenerative disease commonly characterized by a triad of dementia, gait, and urinary disturbance. Advancements in diagnosis and treatment have aided in properly identifying and improving symptoms in patients. However, a large proportion of iNPH patients remain either undiagnosed or misdiagnosed. Using PubMed search engine of keywords “normal pressure hydrocephalus,” “diagnosis,” “shunt treatment,” “biomarkers,” “gait disturbances,” “cognitive function,” “neuropsychology,” “imaging,” and “pathogenesis,” articles were obtained for this review. The majority of the articles were retrieved from the past 10 years. The purpose of this review article is to aid general practitioners in further understanding current findings on the pathogenesis, diagnosis, and treatment of iNPH. PMID:28138494

  5. Idiopathic endogenous lipoid pneumonia.

    PubMed

    Sharma, Aman; Ohri, Shivani; Bambery, Pradeep; Singh, Surjit

    2006-01-01

    Lipoid pneumonia is a rare pulmonary disorder having no classical radiological appearance. We report a 33-year-old male, ex-smoker who was referred to us with history of cough, mild mucoid expectoration and progressively increasing dyspnoea since one year. He was investigated at local hospital and was treated with 30 mg prednisolone per day for 6 months for sarcoidosis without any response. On examination, he was normal except for fine basal crepitations in chest. Pulmonary function test (PFT) revealed mild airway obstruction. High resolution computerised tomographic scan (HRCT scan) revealed bilateral reticulonodular shadows and bronchiectasis in lower zones. Open lung biopsy revealed lipoid pneumonia. As there was no history of nasal distillation of oils, it was diagnosed to be idiopathic. The relevant literature is reviewed.

  6. The idiopathic hypereosinophilic syndrome.

    PubMed Central

    Alfaham, M A; Ferguson, S D; Sihra, B; Davies, J

    1987-01-01

    A 14 year old girl with idiopathic hypereosinophilic syndrome is described. In addition to weight loss, anaemia, amenorrhoea, general lethargy, anorexia, mouth ulcers, blisters of hands and feet, and petechial skin rash, she had features of involvement of the cardiovascular system as the major complication. She responded well to treatment. After a comprehensive search of the published reports 18 cases of this syndrome were identified in children under 16 years. Fifteen of these children had involvement of the cardiovascular system as the major source of their morbidity and mortality. Summary of the clinical details and laboratory, biopsy, and necropsy findings of the involvement of the various organ systems of the 18 children is presented. PMID:3619478

  7. [Idiopathic pulmonary fibrosis].

    PubMed

    Cottin, Vincent; Cordier, Jean-François

    2008-11-01

    Idiopathic pulmonary fibrosis is a chronic disorder characterized histopathologically by a pattern of usual interstitial pneumonia, with heterogeneous and mutilating interstitial fibrosis with foci of proliferating fibroblasts, honeycomb lung, and little if any inflammation. The diagnosis is based on a pluridisciplinary analysis of the clinical symptoms, the chest high-resolution computerized tomography features, and pathology on video-thoracoscopic lung biopsy when indicated. In half of the cases, the typical tomodensitometric pattern allows to make a confident diagnosis without a lung biopsy. The median survival is only about 3 years and is presently not improved by any treatment. Treatment with N-acetylcysteine (antioxydant) in association with corticosteroids and azathioprine may slightly reduce the rate of functional worsening. Clinical trials are in progress to improve the treatment of this still incurable disease.

  8. Ablation of idiopathic ventricular tachycardia.

    PubMed

    Schreiber, Doreen; Kottkamp, Hans

    2010-09-01

    Idiopathic ventricular arrhythmias occur in patients without structural heart disease. They can arise from a variety of specific areas within both ventricles and in the supravalvular regions of the great arteries. Two main groups need to be differentiated: arrhythmias from the outflow tract (OT) region and idiopathic left ventricular, so-called fascicular, tachycardias (ILVTs). OT tachycardia typically originates in the right ventricular OT, but may also occur in the left ventricular OT, particularly in the sinuses of Valsalva or the anterior epicardium or the great cardiac vein. Activation mapping or pace mapping for the OT regions and mapping of diastolic potentials in ILVTs are the mapping techniques that are typically used. The ablation of idiopathic ventricular arrhythmias is highly successful, associated with only rare complications. Newly recognized entities of idiopathic ventricular tachycardias are those originating in the papillary muscles and in the atrioventricular annular regions.

  9. Idiopathic Flushing with Dysesthesia

    PubMed Central

    Fogelman, Joshua P.; Ashinoff, Robin; Soter, Nicholas A.

    2015-01-01

    Objective: The purpose of this study was to analyze the efficacy and safety of the 585nm pulsed dye laser for the treatment of idiopathic flushing with dysesthesia. Design: This was a retrospective study of patients treated with a 585nm pulsed dye laser with fluences ranging from 3.5 to 7.5J/cm2 (purpura threshold fluences), a pulse duration of 450μsec, and a spot size of 5 or 10mm. Setting: The Ronald 0. Perelman Department of Dermatology at New York University Medical Center. Participants: Ten adult subjects who presented with flushing with dysesthesia. Measurements: Participants subjectively evaluated the decrease in dysesthesia and the number of flushing episodes. The objective response to treatment was evaluated by a single physician using pre- and postoperative photographs. The severity of postoperative erythema was compared with baseline using an ordinal scale ranging from zero (resolution of erythema) to four (76-100% of baseline erythema). Results: The mean number of treatments received by the subjects was seven. The mean fluence was 6.66J/cm2. Subjectively, 100 percent of subjects reported a decrease in dysethesia and the number of flushing episodes. Objectively, subjects demonstrated at least a 62.5-percent reduction in erythema. Conclusion: Laser surgery provided subjective relief of dysesthesia and decreased the number of flushing episodes with a greater than 62-percent objective reduction in the severity of erythema. The 585nm pulsed dye laser is a safe, efficacious treatment for the signs and symptoms of idiopathic flushing with dysesthesia. PMID:26345489

  10. Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.

    PubMed

    Kim, Dong Wook; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong Hee; Lee, Ran; Lee, Sang Kun

    2013-10-01

    Genetic mutations in SCN1A account for more than two-thirds of patients with classic Dravet syndrome. A role for SCN1A genetic mutations in the development of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome was recently suggested based on the observation that HHE syndrome and classic Dravet syndrome share many clinical features. We previously identified a 2 bp-deletion mutation in SCN1A in a Dravet patient, and we found out the patient also had HHE syndrome upon clinical re-evaluation. We subsequently screened 10 additional HHE patients for SCN1A. Among the 11 patients who were diagnosed with HHE syndrome, six patients had no other etiology with the exception of prolonged febrile illness, therefore classified as idiopathic HHE syndrome, whereas five patients were classified as symptomatic HHE syndrome. Direct sequencing of all coding exons and flanking intronic sequences of the SCN1A gene was performed, but we failed to identify additional mutations in 10 patients. The patient with SCN1A mutation had the earliest onset of febrile convulsion and hemiparesis. Our study suggests that SCN1A genetic mutation is only a rare predisposing cause of HHE syndrome.

  11. Analysis of Genetically Complex Epilepsies

    PubMed Central

    Ottman, Ruth

    2006-01-01

    During the last decade, great progress has been made in the discovery of genes that influence risk for epilepsy. However, these gene discoveries have been in epilepsies with Mendelian modes of inheritance, which comprise only a tiny fraction of all epilepsy. Most people with epilepsy have no affected relatives, suggesting that the great majority of all epilepsies are genetically complex: multiple genes contribute to their etiology, none of which has a major effect on disease risk. Gene discovery in the genetically complex epilepsies is a formidable task. It is unclear which epilepsy phenotypes are most advantageous to study, and chromosomal localization and mutation detection are much more difficult than in Mendelian epilepsies. Association studies are very promising for the identification of complex epilepsy genes, but we are still in the earliest stages of their application in the epilepsies. Future studies should employ very large sample sizes to ensure adequate statistical power, clinical phenotyping methods of the highest quality, designs and analytic techniques that control for population stratification, and state-of-the-art molecular methods. Collaborative studies are essential to achieve these goals. PMID:16359464

  12. Autism spectrum disorder and epilepsy: Disorders with a shared biology.

    PubMed

    Lee, Bo Hoon; Smith, Tristram; Paciorkowski, Alex R

    2015-06-01

    There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information regarding the genetic causes of both disorders is available. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available for practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. This article is part of a Special Issue entitled "Autism and Epilepsy".

  13. Idiopathic generalised tremor syndrome in two cats.

    PubMed

    Mauler, Daniela A; Van Soens, Iris; Bhatti, Sofie F; Cornelis, Ine; Martlé, Valentine A; Van Ham, Luc M

    2014-04-01

    Two male neutered domestic shorthair cats were evaluated for generalised tremors. On neurological examination both cats showed whole-body tremors, worsening with stress. A mainly cerebellar disorder was suspected. Blood examination, cerebrospinal fluid analysis and electrophysiological examination of both cats and magnetic resonance imaging of the brain in one cat were normal. Idiopathic generalised tremor syndrome (IGTS) was suspected owing to the exclusion of underlying causes and the clinical similarities with the syndrome in dogs. Treatment as recommended for dogs was initiated and resulted in improvement. This report describes the first cases of IGTS in cats.

  14. Idiopathic breakthrough pain: a new hypothesis.

    PubMed

    Sabato, Alessandro Fabrizio

    2010-01-01

    Breakthrough pain (BTP) in treated patients with chronic pain states is neither well defined nor well understood. BTP is generally defined as a transient exacerbation of pain experienced by a patient with relatively stable and adequately controlled baseline pain. It is usually categorized as spontaneous, with no known cause, or incident, when initiated by voluntary or involuntary movements, or therapeutic procedures. Since pain is related to survival, it possibly cannot be completely and permanently controlled. It is hypothesized that glia are at least partially responsible for inducing pain spikes by attempting to reactivate unresponsive neurons. Therefore, compounds that modulate microglia may offer potential alternative therapeutic options in the control of idiopathic BTP.

  15. Neuronal Nicotinic Acetylcholine Receptors and Epilepsy

    PubMed Central

    Bertrand, Daniel

    2002-01-01

    The identification of a genetically transmissible form of epilepsy that is associated with a mutation in CHRNA4, the gene that encodes the α4 subunit of the high-affinity nicotinic acetylcholine receptor, was the first demonstration that an alteration in a ligand-gated ion channel can cause seizures. Since then, nine mutations have been found, and analysis of their physiologic properties has revealed that all of them enhance receptor function. PMID:15309115

  16. Adult-onset idiopathic chondrolysis of the hip.

    PubMed

    Yapp, Liam Z; McClymont, Liusaidh; Beggs, Ian; Gaston, Paul; Salter, Donald M

    2017-05-01

    We report the case of a 23-year-old man diagnosed with adult-onset idiopathic chondrolysis of the hip. Chondrolysis of the hip is a disorder most frequently seen in children who have suffered with slipped capital femoral epiphyses. Idiopathic chondrolysis of the hip is extremely rare and to our knowledge, its onset has never been documented in adults aged over 20. With reference to the available medical literature, we summarise the current clinical management of this unusual but important cause of young adult hip pain.

  17. Clinical Analysis and Management of Acquired Idiopathic Generalized Anhidrosis.

    PubMed

    Satoh, Takahiro

    2016-01-01

    Acquired idiopathic generalized anhidrosis (AIGA) is a sweating disorder characterized by inadequate sweating in response to heat stimuli such as high temperature, humidity, and physical exercise. Patients exhibit widespread nonsegmental hypohidrosis/anhidrosis without any apparent cause, but the palms, soles, and axillae are rarely affected. Heat stroke readily develops due to increased body temperature. AIGA commonly affects young males. Approximately 30-60% of patients show complications of cholinergic urticaria, also known as idiopathic pure sudomotor failure or hypohidrotic cholinergic urticaria. Systemic corticosteroids are the most effective therapy, although recurrence is not uncommon.

  18. Multiple idiopathic external apical root resorption: A rare case report

    PubMed Central

    Bansal, Parul; Nikhil, Vineeta; Kapur, Sonali

    2015-01-01

    Multiple idiopathic external apical root resorption (MIEARR) is a relatively rare condition affecting multiple teeth in a dentition. As the condition is nonsymptomatic, a case is usually detected as an incidental radiographic finding. However, it may cause pain and mobility in severe cases. It is sometimes self-limiting or sometimes may progress to tooth loss. This paper presents a case of external apical root resorption involving multiple teeth in which etiology was not identified, so idiopathic root resorption was considered as a diagnosis of exclusion. PMID:25657532

  19. Three to four years after diagnosis: cognition and behaviour in children with 'epilepsy only'. A prospective, controlled study.

    PubMed

    Oostrom, K J; van Teeseling, H; Smeets-Schouten, A; Peters, A C B; Jennekens-Schinkel, A

    2005-07-01

    A 3.5-year follow-up study of cognition and behaviour in 42 children with newly diagnosed idiopathic or cryptogenic epilepsy ('epilepsy only') attending mainstream education and 30 healthy gender-matched classmate controls was carried out to identify differences between groups, to detect factors that contribute to the difference and its change over time, and to establish the proportion of poorly performing children. The neuropsychological battery covered the major domains of cognition, mental and motor speed and academic language skills. Children were tested at the time of diagnosis (before any anti-epileptic drug treatment started) and 3, 12 and approximately 42 months later. Parents and teachers completed behaviour checklists, for which the scoring was adapted to prevent any influence of epilepsy-related ambiguity. Based on parental interviews at the time of diagnosis, children with epilepsy were categorized as having longstanding behavioural and/or learning problems, as belonging to a troubled family, as being exposed to 'off-balance' parenting starting at the time of epilepsy onset and/or as reacting maladaptively to the changes in relation to the onset of epilepsy. Throughout follow-up, the group of children with epilepsy only performed less well than healthy classmates on measures of learning, memory span for words, attention and behaviour. After controlling for school delay, proactive interference (number of responses to the same images as in the learning trials, but now presented in reordered locations) was the only remaining variable that distinguished the group of children with epilepsy only. Group-wise, no changes in cognitive and behavioural differences over time were found, but instability in individual performances appeared to characterize children with epilepsy only. Rather than intrinsically epilepsy-related variables, such as idiopathic versus cryptogenic aetiology, seizure control or anti-epileptic drug treatment, the child's prediagnostic

  20. Towards precision medicine in epilepsy surgery

    PubMed Central

    Jin, Pingping; Wu, Dongyan; Li, Xiaoxuan

    2016-01-01

    Up to a third of all patients with epilepsy are refractory to medical therapy even in the context of the introduction of new antiepileptic drugs (AEDs) with considerable advantages in safety and tolerability over the last two decades. It has been widely accepted that epilepsy surgery is a highly effective therapeutic option in a selected subset of patients with refractory focal seizure. There is no doubt that accurate localization of the epileptogenic zone (EZ) is crucial to the success of resection surgery for intractable epilepsy. The pre-surgical evaluation requires a multimodality approach wherein each modality provides unique and complimentary information. Accurate localization of EZ still remains challenging, especially in patients with normal features on MRI. Whereas substantial progress has been made in the methods of pre-surgical assessment in recent years, which widened the applicability of surgical treatment for children and adults with refractory seizure. Advances in neuroimaging including voxel-based morphometric MRI analysis, multimodality techniques and computer-aided subtraction ictal SPECT co-registered to MRI have improved our ability to identify subtle structural and metabolic lesions causing focal seizure. Considerable observations from animal model with epilepsy and pre-surgical patients have consistently found a strong correlation between high frequency oscillations (HFOs) and epileptogenic brain tissue that suggest HFOs could be a potential biomarker of EZ. Since SEEG emphasizes the importance to study the spatiotemporal dynamics of seizure discharges, accounting for the dynamic, multidirectional spatiotemporal organization of the ictal discharges, it has greatly deep our understanding of the anatomo-electro-clinical profile of seizure. In this review, we focus on some state-of-the-art pre-surgical investigations that contribute to the precision medicine. Furthermore, advances also provide opportunity to achieve the minimal side effects and

  1. Epilepsy - what to ask your doctor - child

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000222.htm Epilepsy - what to ask your doctor - child To use ... this page, please enable JavaScript. Your child has epilepsy. Children with epilepsy have seizures. A seizure is ...

  2. Future directions in the neuropsychology of epilepsy.

    PubMed

    McDonald, Carrie R; Taylor, Joanne; Hamberger, Marla; Helmstaedter, Christoph; Hermann, Bruce P; Schefft, Bruce

    2011-09-01

    Two important themes for future clinical research in the neuropsychology of epilepsy are proposed: (1) the neurobiological abnormalities that underlie neuropsychological impairment in people with epilepsy, and (2) neuropsychological status of persons with new-onset epilepsy.

  3. Acute Exacerbation of Idiopathic Pulmonary Fibrosis. An International Working Group Report.

    PubMed

    Collard, Harold R; Ryerson, Christopher J; Corte, Tamera J; Jenkins, Gisli; Kondoh, Yasuhiro; Lederer, David J; Lee, Joyce S; Maher, Toby M; Wells, Athol U; Antoniou, Katerina M; Behr, Juergen; Brown, Kevin K; Cottin, Vincent; Flaherty, Kevin R; Fukuoka, Junya; Hansell, David M; Johkoh, Takeshi; Kaminski, Naftali; Kim, Dong Soon; Kolb, Martin; Lynch, David A; Myers, Jeffrey L; Raghu, Ganesh; Richeldi, Luca; Taniguchi, Hiroyuki; Martinez, Fernando J

    2016-08-01

    Acute exacerbation of idiopathic pulmonary fibrosis has been defined as an acute, clinically significant, respiratory deterioration of unidentifiable cause. The objective of this international working group report on acute exacerbation of idiopathic pulmonary fibrosis was to provide a comprehensive update on the topic. A literature review was conducted to identify all relevant English text publications and abstracts. Evidence-based updates on the epidemiology, etiology, risk factors, prognosis, and management of acute exacerbations of idiopathic pulmonary fibrosis are provided. Finally, to better reflect the current state of knowledge and improve the feasibility of future research into its etiology and treatment, the working group proposes a new conceptual framework for acute respiratory deterioration in idiopathic pulmonary fibrosis and a revised definition and diagnostic criteria for acute exacerbation of idiopathic pulmonary fibrosis.

  4. Smoking-related idiopathic interstitial pneumonia: A review.

    PubMed

    Margaritopoulos, George A; Harari, Sergio; Caminati, Antonella; Antoniou, Katerina M

    2016-01-01

    For many years, cigarette smoking has been considered as the leading cause of chronic obstructive pulmonary disease and lung cancer. Recently, however, it has also been associated with the development of diffuse interstitial lung diseases. In the latest classification of the major idiopathic interstitial pneumonias (IIP), the term smoking-related IIP has been introduced, including two entities, namely desquamative interstitial pneumonia (DIP) and respiratory bronchiolitis-interstitial lung disease (RB-ILD). Other entities in which smoking has a definite or suggested role include pulmonary Langerhan's cell histiocytosis, smoking-related interstitial fibrosis, combined pulmonary fibrosis and emphysema syndrome and idiopathic pulmonary fibrosis. In this review, we will focus on the mechanisms of smoking-related lung damage and on the clinical aspects of these disorders with the exception of idiopathic pulmonary fibrosis, which will be reviewed elsewhere in this review series.

  5. AA amyloidosis associated with systemic-onset juvenile idiopathic arthritis.

    PubMed

    Saha, Abhijeet; Chopra, Yogiraj; Theis, Jason D; Vrana, Julie A; Sethi, Sanjeev

    2013-10-01

    We report a 12-year-old boy with nephrotic syndrome due to renal AA amyloidosis. The AA amyloidosis was associated with a 3-year history of systemic-onset juvenile idiopathic arthritis. The presence of serum amyloid A protein was confirmed by laser microdissection of Congo Red-positive glomeruli and vessels followed by liquid chromatography and tandem mass spectrometry; this analysis excluded hereditary and familial amyloidosis. Aggressive management of the systemic-onset juvenile idiopathic arthritis resulted in improvement in clinical and laboratory parameters. The case represents an unusual cause of nephrotic syndrome in children. Early diagnosis of renal amyloidosis and management of systemic-onset juvenile idiopathic arthritis is paramount to preventing progression of kidney disease.

  6. Cost-effective therapy in patients with idiopathic hirsutism.

    PubMed

    Lumachi, Franco; Zulian, Elisa; Scaroni, Carla

    2004-06-01

    Hirsutism affects 10% of women. Hirsute women with normal circulating androgen levels and normal ovarian function (i.e., regular and ovulatory menstrual cycles) are defined as having idiopathic hirsutism, which may affect more than 20% of all hirsute women. In the treatment of idiopathic hirsutism, different medical therapies, alone or in combination, have been reported. The drugs currently available are oral contraceptives, cyproterone acetate androgen receptors blockers (i.e., spironolactone and flutamide), 5alpha-reductase inhibitors (e.g., finasteride [Proscar, Aventis]) and gonadotrophin-releasing hormone analogs. After 1 year of treatment, each drug may improve hirsutism and reduce the Ferriman-Gallwey score by 35-40%. This review analyses the causes of hirsutism and provides information on each therapy and the cost-effective results in patients with idiopathic hirsutism.

  7. Are “Theory of Mind” Skills in People with Epilepsy Related to How Stigmatised They Feel? An Exploratory Study

    PubMed Central

    Robinson, A.

    2016-01-01

    Feelings of stigma are one of the main burdens reported by people with epilepsy (PWE). Adults with temporal or frontal lobe epilepsy and children with idiopathic generalised epilepsy are at risk of Theory of Mind (ToM) deficits. ToM refers to social cognitive skills, including the ability to understand the thoughts, intentions, beliefs, and emotions of others. It has been proffered that ToM deficits may contribute to the feelings of stigma experienced by PWE. In this study we tested this for the first time. We also determined the association between clinical and demographic factors and ToM performance. Five hundred and three PWE were recruited via epilepsy organisations and completed measures online. Feelings of stigma were measured using Jacoby's Stigma Scale, whilst the Reading the Mind in the Eyes Test and the Faux Pas Test measured ToM. The median age of participants was 37 years, their median years living with epilepsy were 15, and 70% had experienced seizures in the prior 12 months. Feelings of stigma held a negligible, negative, and nonsignificant association with ToM performance (rs  −0.02 and −0.05). Our results indicate that the ToM model for understanding epilepsy stigma has limited utility and alternative approaches to understanding and addressing epilepsy-related stigma are required. PMID:27635114

  8. Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.

    PubMed

    Auvin, Stéphane; Bellavoine, Vanina; Merdariu, Dana; Delanoë, Catherine; Elmaleh-Bergés, Monique; Gressens, Pierre; Boespflug-Tanguy, Odile

    2012-09-01

    Hemiconvulsion-Hemiplegia (HH) syndrome is an uncommon consequence of prolonged focal febrile convulsive seizures in infancy and early childhood. It is characterized by the occurrence of prolonged clonic seizures with unilateral predominance occurring in a child and followed by the development of hemiplegia. Neuroradiological studies showed unilateral edematous swelling of the epileptic hemisphere at the time of initial status epilepticus (SE). This acute phase is followed by characteristic cerebral hemiatrophy with subsequent appearance of epilepsy, so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The etiologies and the underlying mechanisms remain to be understood. Using a review of the literature, we summarized the data of the last 20 years. It appears that idiopathic HH/HHE syndrome is the most common reported form. The basic science data suggest that immature brain is relatively resistant to SE-induced cell injury. Several factors might contribute to the pathogenesis of HH/HHE syndrome: 1. prolonged febrile seizure in which inflammation may worsen the level of cell injury; 2. inflammation and prolonged ictal activity that act on blood-brain-barrier permeability; 3. predisposing factors facilitating prolonged seizure such as genetic factors or focal epileptogenic lesion. However, these factors cannot explain the elective involvement of an entire hemisphere. We draw new hypothesis that may explain the involvement of one hemisphere such as maturation of brain structure such as corpus callosum or genetic factors (CACNA1A gene) that are specifically discussed. An early diagnosis and a better understanding of the underlying mechanisms of HHE are needed to improve the outcome of this condition.

  9. Classification of seizures and epilepsy.

    PubMed

    Riviello, James J

    2003-07-01

    The management of seizures and epilepsy begins with forming a differential diagnosis, making the diagnosis, and then classifying seizure type and epileptic syndrome. Classification guides treatment, including ancillary testing, management, prognosis, and if needed, selection of the appropriate antiepileptic drug (AED). Many AEDs are available, and certain seizure types or epilepsy syndromes respond to specific AEDs. The identification of the genetics, molecular basis, and pathophysiologic mechanisms of epilepsy has resulted from classification of specific epileptic syndromes. The classification system used by the International League Against Epilepsy is periodically revised. The proposed revision changes the classification emphasis from the anatomic origin of seizures (focal vs generalized) to seizure semiology (ie, the signs or clinical manifestations). Modified systems have been developed for specific circumstances (eg, neonatal seizures, infantile seizures, status epilepticus, and epilepsy surgery). This article reviews seizure and epilepsy classification, emphasizing new data.

  10. Molecular biology of epilepsy genes.

    PubMed

    Williams, Charles A; Battaglia, Agatino

    2013-06-01

    Multifactorial inheritance is the most important model accounting for the genetic behavior of the common epilepsies. Important to this model is the concept that many cumulative or synergistic risk genes ultimately lead to a threshold effect. Sophisticated molecular testing indicates that the common epilepsies are very polygenic without evidence of any single gene having even a mild-to-modest risk effect. However, enrichment of copy number variants in cohorts of individuals with epilepsy indicates that certain structural changes in the genome can confer significant risk for epilepsy. The mechanisms whereby copy number variants confer this effect are not yet known. The study of epilepsy due to single gene defects however has helped clarify certain seizure mechanisms. For example, discoveries using animal models of SCN1A or ARX mutations implicate a predominant role for interneurons due to disturbed GABAergic function. It is hoped that future genetic and neurobiological studies will provide better insight into how multiple genes contribute to the common epilepsies.

  11. Confronting the stigma of epilepsy

    PubMed Central

    Thomas, Sanjeev V.; Nair, Aparna

    2011-01-01

    Stigma and resultant psychosocial issues are major hurdles that people with epilepsy confront in their daily life. People with epilepsy, particularly women, living in economically weak countries are often ill equipped to handle the stigma that they experience at multiple levels. This paper offers a systematic review of the research on stigma from sociology and social psychology and details how stigma linked to epilepsy or similar conditions can result in stereotyping, prejudice and discrimination. We also briefly discuss the strategies that are most commonly utilized to mitigate stigma. Neurologists and other health care providers, social workers, support groups and policy makers working with epilepsy need to have a deep understanding of the social and cultural perceptions of epilepsy and the related stigma. It is necessary that societies establish unique determinants of stigma and set up appropriate strategies to mitigate stigma and facilitate the complete inclusion of people with epilepsy as well as mitigating any existing discrimination. PMID:22028525

  12. Sudden unexpected death in epilepsy: from the lab to the clinic setting.

    PubMed

    Terra, Vera C; Cysneiros, Roberta; Cavalheiro, Esper A; Scorza, Fulvio A

    2013-03-01

    Sudden unexpected death in epilepsy (SUDEP) is defined as sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death in a patient with epilepsy. Sudden unexpected death in epilepsy is probably the most common cause of epilepsy-related deaths. Many predisposing and initiating factors may coexist and contribute to SUDEP, but the mechanisms are poorly understood. Cardiac and respiratory deregulation seems to have a major role in SUDEP. Here, we review several advances in understanding the mechanisms involved in SUDEP.

  13. Parkinson's Disease and Cryptogenic Epilepsy.

    PubMed

    Son, Andre Y; Biagioni, Milton C; Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49-85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  14. Parkinson's Disease and Cryptogenic Epilepsy

    PubMed Central

    Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association. PMID:27688919

  15. Epilepsy and videogames.

    PubMed

    Bureau, Michelle; Hirsch, Edouard; Vigevano, Federico

    2004-01-01

    Since the first case of videogame (VG) epilepsy was reported in 1981, many cases of seizures triggered by VGs were reported, not only in photosensitive, but also in non-photosensitive children and adolescents with epilepsy. We provide an overview of the literature with overall conclusions and recommendations regarding VG playing. Specific preventive measures concerning the physical characteristics of images included in commercially available VGs (flash rate, choice of colors, patterns, and contrast) can lead in the future to a clear decrease of this problem. In addition to the positive effect of such measures, the collaborative studies performed in France and in the rest of Europe have stressed the importance of a safe distance to the screen of > or = 2 m, and the less provocative role of 100-Hz screens.

  16. [Biofeedback treatment for epilepsy].

    PubMed

    Nagai, Yoko

    2014-05-01

    Pharmacological treatment is the mainstay for the treatment of epilepsy. However concerns regarding long-term side effects of drugs are increasingly voiced. Behavioral treatments including biofeedback, represents an alternative management option for the control of epilepsy. Biofeedback is a non-invasive bio-behavioral procedure through which patients can learn to gain psychophysiological control over seizures. This article will first overview seizure precipitation from a psychological perspective, and then introduce three major biofeedback treatments. Sensory motor rhythm (SMR) and slow cortical potential(SCP) biofeedback uses electroencephalographic parameters and are categorized as neurofeedback. Electrodermal activity (EDA) biofeedback focuses on modulation of peripheral sympathetic tone. The neural mechanisms underlying biofeedback treatment will be discussed in relation to thalamo-cortical regulation(of neural excitability across brain networks).

  17. Tuberous Sclerosis with Epilepsy

    DTIC Science & Technology

    2009-02-01

    50% of individuals with TS have learning difficulties that include autism , attention-deficit hyperactivity disorder (ADHD), behavioral issues...These findings of TS manifest themselves symptomatically as seizures, epilepsy, and learning disabilities including autism , ADHD, behavioral...molecular pathogenesis to rationale for treatment”. J Child Neurol 2005; 20:318 –325. 15) Chandra PS, Salamon N, Huang J, et al. “FDG-PET/MRI

  18. Photoacoustic Imaging of Epilepsy

    DTIC Science & Technology

    2012-04-01

    NUMBER University of Florida Biomedical Sciences Building Gainesville, FL 32611 9. SPONSORING / MONITORING AGENCY NAME(S...however, 80% individuals with medication resistant epilepsy might be cured through surgery if one were able to precisely localize the seizure focus...6–15 (2001). 4. L. A. Kunyansky, “Explicit inversion formulae for the spherical mean radon transform,” Inverse Probl. 23(1), 373–383 (2007). 5. D

  19. Photoacoustic Imaging of Epilepsy

    DTIC Science & Technology

    2014-04-01

    NeuroImage 66 (2013) 240–248( Bertram , 2009) and that current diagnostics methods frequently fall short of identifying such sites. Animal studies...indicate that the neu- rons involved in the epileptic circuitry have enhanced excitability throughout ( Bertram et al., 1998; Fountain et al., 1998; Mangan... Bertram , E.H., 2009. Temporal lobe epilepsy: where do the seizures really begin? Epi- lepsy Behav. 14, 32–37. Bertram , E.H., Zhang, D.X., Mangan, P

  20. Periventricular heterotopia and epilepsy.

    PubMed

    Huttenlocher, P R; Taravath, S; Mojtahedi, S

    1994-01-01

    We report a family with nodular subependymal masses of heterotopic gray matter occurring in six members in four generations. Only female members of the family are affected, and there is a high rate of spontaneous abortion, consistent with X-linked dominant inheritance, and lack of viability in affected males. Both in this family and in sporadic cases of subependymal heterotopias there is a high frequency of convulsive disorders, suggesting that epilepsy may be the major clinical manifestation of this developmental defect.

  1. Diagnosing and Solving School Learning Disabilities in Epilepsy: Part 5, School and Psychological Testing

    ERIC Educational Resources Information Center

    Mittan, Robert J.

    2010-01-01

    In the last article, the author covered the social and psychological causes to learning difficulty that can be created by epilepsy. Over the last two articles, the author gained a fairly complete picture of problems that may be due to the physical disorder of epilepsy and problems due to its unique impact on the social aspects of the classroom. In…

  2. Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

    ERIC Educational Resources Information Center

    Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

  3. Planning Ahead Can Save the Life of a Child with Epilepsy

    ERIC Educational Resources Information Center

    Apel, Laura; Hollingsworth, Jan Carter

    2008-01-01

    Three million Americans have epilepsy, a chronic neurological condition characterized by recurrent epileptic seizures unprovoked by any known cause. Those at risk for epilepsy include individuals with mental retardation, cerebral palsy, autism, stroke, major head trauma, central nervous system (CNS) hemorrhage, CNS infection, dementia, and brain…

  4. Epilepsy and chromosomal abnormalities

    PubMed Central

    2010-01-01

    Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Methods Detailed clinical assessment, electrophysiological studies, survey of the literature. Results In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. Conclusions A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities. PMID:20438626

  5. Dietary therapies for epilepsy.

    PubMed

    Kossoff, Eric H; Wang, Huei-Shyong

    2013-01-01

    Since their introduction in 1921, high-fat, low-carbohydrate "ketogenic" diets have been used worldwide for refractory childhood epilepsy. Approximately half of the children have at least half their seizures reduced, including 15% who are seizure free. The mechanisms of action of dietary therapies are under active investigation and appear to involve mitochondria. Once perceived as a last resort, modifications to initiation and maintenance, as well as the widespread use of pre-made ketogenic formulas have allowed dietary treatment to be used earlier in the course of epilepsy. For infantile spasms (West syndrome) specifically, the ketogenic diet is successful about 50% of the time as a first-line treatment. New "alternative" diets such as the modified Atkins diet were created in 2003 and can be started more easily and are less restrictive. They may have particular value for countries in Asia. Side effects include constipation, dyslipidemia, growth slowing, acidosis, and kidney stones. Additionally, neurologists are studying ketogenic diets for conditions other than epilepsy, including Alzheimer's disease, autism, and brain tumors.

  6. [Idiopathic lung fibrosis].

    PubMed

    Leonhardt, L; Geldszus, R; Molitor, S J

    1990-02-01

    In a 39-year-old patient with chronic progressive idiopathic pulmonary fibrosis, the genetic aspects, course and therapeutic possibilities of the disease are discussed. In February, 1987, the English-born patient, Anthony V., attended for initial examination on account of progressive dyspnoea, on which occasion radiology and pulmonary function analysis revealed advanced pulmonary fibrosis. The patient's family history revealed a familial genesis, since both his father (?) and his sister had died of this disease. A comparative of the patient's chest films with original chest films of his sister revealed almost identical findings. Within the previous twelve months, follow-up examinations done on A.V. revealed an increase in the restrictive component (reduction of vital capacity from 2,400 ml to 1,500 ml), development of partial respiratory failure at rest, and global respiratory failure in response to mild ergometric exercise despite intermittent high-dose steroid administrations superimposed on long-term, low-dose steroid therapy. The unfavourable evolution observed over the past 12 months is underscored by an increase in mean pulmonary arterial pressure from 18 mmHg initially to a present 34 mmHg at rest, and 46 mmHg under submaximal ergometric loading. The only option still left to the patient is the possibility of a lung transplantation, which - probably initially unilateral - is scheduled to be carried out in the near future at the Chest Surgery Department of the Medical University at Hannover.

  7. Adolescent Idiopathic Scoliosis

    PubMed Central

    Rinsky, Lawrence A.; Gamble, James G.

    1988-01-01

    Adolescent idiopathic scoliosis is the single most common form of spinal deformity seen in orthopedic practice. Our knowledge about the epidemiology, etiology, natural history, and treatment has recently increased dramatically. The incidence of small curves is rather high (2% of the population), whereas severe curves are much less common (<0.1%), but we cannot always predict which curve will progress. Abnormalities of the neuromuscular system and of calcium metabolism, and certain growth, genetic, and mechanical factors may all play roles in the pathogenesis of the disorder. The physiologic secondary effects of severe scoliosis relate to restrictive lung disease, but most patients do not have a deformity great enough to affect their cardiorespiratory function. The psychological and social effects of scoliosis are significant for patients but difficult to quantitate. For most patients with moderate scoliosis—that is, more than 25 to 30 degrees—treatment with an underarm brace or electrical stimulation is adequate to “control” progression of the curve. Surgical fusion allows actual correction of the curve but is indicated in only a small percentage of patients—usually those with more than 50 degrees of deformity. Images PMID:3279708

  8. Idiopathic fascicular ventricular tachycardia.

    PubMed

    Francis, Johnson; Venugopal, K; Khadar, S A; Sudhayakumar, N; Gupta, Anoop K

    2004-07-01

    Idiopathic fascicular ventricular tachycardia is an important cardiac arrhythmia with specific electrocardiographic features and therapeutic options. It is characterized by relatively narrow QRS complex and right bundle branch block pattern. The QRS axis depends on which fascicle is involved in the re-entry. Left axis deviation is noted with left posterior fascicular tachycardia and right axis deviation with left anterior fascicular tachycardia. A left septal fascicular tachycardia with normal axis has also been described. Fascicular tachycardia is usually seen in individuals without structural heart disease. Response to verapamil is an important feature of fascicular tachycardia. Rare instances of termination with intravenous adenosine have also been noted. A presystolic or diastolic potential preceding the QRS, presumed to originate from the Purkinje fibers can be recorded during sinus rhythm and ventricular tachycardia in many patients with fascicular tachycardia. This potential (P potential) has been used as a guide to catheter ablation. Prompt recognition of fascicular tachycardia especially in the emergency department is very important. It is one of the eminently ablatable ventricular tachycardias. Primary ablation has been reported to have a higher success, lesser procedure time and fluoroscopy time.

  9. Idiopathic intracranial hypertension presenting as postpartum headache

    PubMed Central

    Mathew, Mariam; Salahuddin, Ayesha; Mathew, Namitha R.; Nandhagopal, Ramachandiran

    2016-01-01

    Postpartum headache is described as headache and neck or shoulder pain during the first 6 weeks after delivery. Common causes of headache in the puerperium are migraine headache and tension headache; other causes include pre-eclampsia/eclampsia, post-dural puncture headache, cortical vein thrombosis, subarachnoid hemorrhage, posterior reversible leukoencephalopathy syndrome, brain tumor, cerebral ischemia, meningitis, and so forth. Idiopathic intracranial hypertension (IIH) is a rare cause of postpartum headache. It is usually associated with papilledema, headache, and elevated intracranial pressure without any focal neurologic abnormality in an otherwise healthy person. It is more commonly seen in obese women of reproductive age group, but rare during pregnancy and postpartum. We present a case of IIH who presented to us 18 days after cesarean section with severe headache and was successfully managed. PMID:26818168

  10. Toxoplasmosis and Epilepsy — Systematic Review and Meta Analysis

    PubMed Central

    Ngoungou, Edgard B.; Bhalla, Devender; Nzoghe, Amandine; Dardé, Marie-Laure; Preux, Pierre-Marie

    2015-01-01

    Background Toxoplasmosis is an important, widespread, parasitic infection caused by Toxoplasma gondii. The chronic infection in immunocompetent patients, usually considered as asymptomatic, is now suspected to be a risk factor for various neurological disorders, including epilepsy. We aimed to conduct a systematic review and meta-analysis of the available literature to estimate the risk of epilepsy due to toxoplasmosis. Methods A systematic literature search was conducted of several databases and journals to identify studies published in English or French, without date restriction, which looked at toxoplasmosis (as exposure) and epilepsy (as disease) and met certain other inclusion criteria. The search was based on keywords and suitable combinations in English and French. Fixed and random effects models were used to determine odds ratios, and statistical significance was set at 5.0%. Principal findings Six studies were identified, with an estimated total of 2888 subjects, of whom 1280 had epilepsy (477 positive for toxoplasmosis) and 1608 did not (503 positive for toxoplasmosis). The common odds ratio (calculated) by random effects model was 2.25 (95% CI 1.27–3.9), p = 0.005. Conclusions Despite the limited number of studies, and a lack of high-quality data, toxoplasmosis should continue to be regarded as an epilepsy risk factor. More and better studies are needed to determine the real impact of this parasite on the occurrence of epilepsy. PMID:25695802

  11. Cardiac arrhythmias and sudden unexpected death in epilepsy (SUDEP).

    PubMed

    Velagapudi, Poonam; Turagam, Mohit; Laurence, Thomas; Kocheril, Abraham

    2012-03-01

    Sudden unexpected death in epilepsy (SUDEP) is a major clinical problem in epilepsy patients in the United States, especially those with chronic, uncontrolled epilepsy. Several pathophysiological events contributing to SUDEP include cardiac arrhythmias, respiratory dysfunction, and dysregulation of systemic or cerebral circulation. There is a significant body of literature suggesting the prominent role of cardiac arrhythmias in the pathogenesis of SUDEP. There is evidence to say that long-standing epilepsy can cause physiological and anatomical autonomic instability resulting in life-threatening arrhythmias. Tachyarrhythmias, bradyarrhythmias, and asystole are commonly seen during ictal, interictal, and postictal phase in epilepsy patients. It is unclear if these rhythm disturbances need attention as some of them may be just benign findings. Evidence regarding prolonged cardiovascular monitoring or the benefit of pacemaker/defibrillator implantation for primary or secondary prevention in epilepsy patients is limited. Awareness regarding pathophysiology, cardiac effects, and management options of SUDEP will become useful in guiding more individualized treatment in the near future. (PACE 2011; 1-8).

  12. The extratemporal lobe epilepsies in the epilepsy monitoring unit

    PubMed Central

    Dash, Deepa; Tripathi, Manjari

    2014-01-01

    Extratemporal lobe epilepsies (ETLE) are characterized by the epileptogenic foci outside the temporal lobe. They have a wide spectrum of semiological presentation depending upon the site of origin. They can arise from frontal, parietal, occipital lobes and from hypothalamic hamartoma. We discuss in this review the semiology of different types of ETLE encountered in the epilepsy monitoring unit. PMID:24791090

  13. Understanding of Epilepsy by Children and Young People with Epilepsy

    ERIC Educational Resources Information Center

    Lewis, Ann; Parsons, Sarah

    2008-01-01

    There is a striking dearth of studies focusing sensitively and in depth on the mainstream educational experiences of children with epilepsy, as viewed by those children themselves. The one-year project (2006-7) reported here addresses that gap. Children's perceptions about mainstream teachers' understanding of epilepsy and school-based needs are…

  14. Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?

    PubMed Central

    Wandschneider, Britta; Centeno, Maria; Vollmar, Christian; Symms, Mark; Thompson, Pamela J.; Duncan, John S.

    2014-01-01

    Juvenile myoclonic epilepsy is a heritable idiopathic generalized epilepsy syndrome, characterized by myoclonic jerks and frequently triggered by cognitive effort. Impairment of frontal lobe cognitive functions has been reported in patients with juvenile myoclonic epilepsy and their unaffected siblings. In a recent functional magnetic resonance imaging study we reported abnormal co-activation of the motor cortex and increased functional connectivity between the motor system and prefrontal cognitive networks during a working memory paradigm, providing an underlying mechanism for cognitively triggered jerks. In this study, we used the same task in 15 unaffected siblings (10 female; age range 18–65 years, median 40) of 11 of those patients with juvenile myoclonic epilepsy (six female; age range 22–54 years, median 35) and compared functional magnetic resonance imaging activations with 20 age- and gender-matched healthy control subjects (12 female; age range 23–46 years, median 30.5). Unaffected siblings showed abnormal primary motor cortex and supplementary motor area co-activation with increasing cognitive load, as well as increased task-related functional connectivity between motor and prefrontal cognitive networks, with a similar pattern to patients (P < 0.001 uncorrected; 20-voxel threshold extent). This finding in unaffected siblings suggests that altered motor system activation and functional connectivity is not medication- or seizure-related, but represents a potential underlying mechanism for impairment of frontal lobe functions in both patients and siblings, and so constitutes an endophenotype of juvenile myoclonic epilepsy. PMID:25001494

  15. Aetiology and long-term outcome of juvenile epilepsy in 136 dogs.

    PubMed

    Arrol, L; Penderis, J; Garosi, L; Cripps, P; Gutierrez-Quintana, R; Gonçalves, R

    2012-03-01

    The aetiology and outcome of dogs with juvenile-onset seizures were investigated. One hundred and thirty-six dogs whose first seizure occurred before the age of one year were investigated. One hundred and two dogs were diagnosed with idiopathic epilepsy (IE), 23 with symptomatic epilepsy (SE), nine with reactive seizures (RS) and two with probable symptomatic epilepsy (pSE). The outcome was known in 114 dogs; 37 per cent died or were euthanased as a consequence of seizures. The mean survival time of this population of dogs was 7.1 years. Factors that were significantly associated with survival outcome included the diagnosis of SE and the number of antiepileptic drugs (AEDs) used before investigation. The use of one AED before investigation and a diagnosis of SE were associated with a negative outcome, whereas receiving no AED medications before referral was associated with a longer survival. For dogs with IE, survival time was shortened if the dog was a border collie or with a history of status epilepticus;receiving no AEDs before referral in the IE group was associated with a positive outcome. Seizure-free status was achieved in 22 per cent of dogs diagnosed with IE. While the survival times were longer than previously reported in canine epilepsy, similar remission rates to those reported in childhood epilepsy, where a 70 per cent remission rate is documented, were not seen in the canine juvenile population.

  16. The state of the art in the genetic analysis of the epilepsies.

    PubMed

    Greenberg, David A; Pal, Deb K

    2007-07-01

    Genetic influences as causal factors in the epilepsies continue to be vigorously investigated, and we review several important studies of genes reported in 2006. To date, mutations in ion channel and neuroreceptor component genes have been reported in the small fraction of cases with clear Mendelian inheritance. These findings confirm that the so-called "channelopathies" are generally inherited as monogenic disorders. At the same time, the literature in common epilepsies abounds with reports of associations and reports of nonreplication of those association studies, primarily with channel genes. These contradictory reports can mostly be explained by confounding factors unique to genetic studies. The methodology of genetic studies and their common biases and confounding factors are also explained in this review. Amid the controversy, steady progress is being made on the epilepsies of complex inheritance, which represent the most common idiopathic epilepsy. Recent discoveries show that genes influencing the developmental assembly of neural circuits and neuronal metabolism may play a more prominent role in the common epilepsies than genes affecting membrane excitability and synaptic transmission.

  17. [Evaluation of folate substitution in women with epilepsy. Determination of erythrocyte folic acid concentrations].

    PubMed

    Bauer, J; Bös, M; Rück, J; Stoffel-Wagner, B

    2011-04-01

    Insufficient maternal folate concentrations appear to be a fetal risk factor for neural tube defects (NTD). Erythrocyte folate concentrations are widely accepted as an indicator of tissue folate storage. We retrospectively evaluated erythrocyte folate concentrations to examine if a recommended daily dosage of 5 mg folic acid is sufficient to balance the impact of antiepileptic drugs (AED) on folate metabolism in women with epilepsy. Data of 48 women (mean age 30.3 years) with idiopathic epilepsy with generalized seizures (n=12) or symptomatic epilepsy with focal seizures (n=36) were available, 43 women submitted to further analysis and 30 women received AED monotherapy. Duration of folic acid supplementation varied between 0.5 and 12 months. The daily dosage of folic acid ranged from 0.4 to 15 mg and 32 women received 5 mg/day. Erythrocyte folate concentrations ranged from 282 to 1596 ng/ml (mean 780 ng/ml). In 29 out of the 32 women (90.6%) on 5 mg folic acid per day, red cell folate was ≥400 ng/ml. In previous studies the risk for NTD was estimated to be 0.8‰ if red cell folate was ≥400 ng/ml. Our results suggest that 5 mg/day folic acid as preconception supplementation in women with epilepsy is effective to balance the impact of AEDs on folate metabolism in women with epilepsy.

  18. Plants used to treat epilepsy by Tanzanian traditional healers.

    PubMed

    Moshi, Mainen J; Kagashe, Godeliver A B; Mbwambo, Zakaria H

    2005-02-28

    A cross-sectional study performed in Temeke District (Dar es Salaam, Tanzania) showed that 5.5% of the traditional healers have knowledge for the treatment of epilepsy. Of the 100 healers interviewed, 30 (30%) believed that epilepsy was caused by witchcraft, while 19 (19%) thought epilepsy has a genetic origin which can be inherited. Other healers thought epilepsy can be caused by head injury or malaria (24%), and the remaining 27% did not know the cause. Most of the healers (92%) could present an accurate account on the symptoms of the disease, including dizziness, loss of consciousness, abrupt falling down, frothing from the mouth, loss of memory, biting of the tongue, confusion, and restlessness. They showed competence in the treatment of the disease, whereby 60 plants that are commonly used were mentioned. Abrus precatorius L. (Leguminosae), Clausena anisata (Willd.) Oliv. (Rutaceae) and Hoslundia opposita Vahl (Lamiaceae), which are among the plants mentioned, have proven anticonvulsant activity, while a few other species on their list have been reported to be useful in the treatment of epilepsy. Biological testing of these plants, using different models of convulsions is, suggested.

  19. The Music Student with Epilepsy

    ERIC Educational Resources Information Center

    Murdock, Matthew C.; Morgan, Joseph A.; Laverghetta, Thomas S.

    2012-01-01

    The teacher-student relationship can afford the music educator an opportunity to be the first to identify behaviors associated with epilepsy. A case of a student with epilepsy, based on the authors' experience, is described in which the music educators were the first and only individuals to become aware of a change in the student's behavior, after…

  20. The Knowledge, Attitude, and Perception towards Epilepsy amongst Medical Students in Uyo, Southern Nigeria

    PubMed Central

    Ekeh, Bertha C.; Ekrikpo, Udeme E.

    2015-01-01

    Background and Aim. Epilepsy remains a stigmatized disease especially in Sub-Saharan Africa. Lack of information and illiteracy has been blamed as the cause of the stigmatization. This stigmatization stems from the fact that the traditional African belief views epilepsy as a spiritual disease. We studied the knowledge, attitude, and perception towards epilepsy amongst medical students comparing the knowledge of the clinical students with that of the basic medical (preclinical) students. Methodology. The participants were medical students in University of Uyo. We administered questionnaires which explored the knowledge of etiology (perceived and medically proven). We studied the beliefs in infectivity of epilepsy, treatment together with their attitudes, and perception to persons with epilepsy. Results. Most of the participants do not have a good knowledge of epilepsy. The knowledge, however, was much better amongst the clinical students. There is some difference in the attitudes of the clinical students compared with the basic students. Conclusion. There is a knowledge gap in epilepsy even amongst medical students. Participants still harbor the traditional African beliefs that epilepsy is a spiritual disease. Mercifully, the knowledge is better amongst the clinical students. This is not surprising since the clinical students have had clinical exposure to epilepsy. PMID:26556558

  1. The treatment of epilepsy in developing countries: where do we go from here?

    PubMed Central

    Scott, R. A.; Lhatoo, S. D.; Sander, J. W.

    2001-01-01

    Epilepsy is the most common serious neurological disorder and is one of the world's most prevalent noncommunicable diseases. As the understanding of its physical and social burden has increased it has moved higher up the world health agenda. Over four-fifths of the 50 million people with epilepsy are thought to be in developing countries; much of this condition results from preventable causes. Around 90% of people with epilepsy in developing countries are not receiving appropriate treatment. Consequently, people with epilepsy continue to be stigmatized and have a lower quality of life than people with other chronic illnesses. However, bridging the treatment gap and reducing the burden of epilepsy is not straightforward and faces many constraints. Cultural attitudes, a lack of prioritization, poor health system infrastructure, and inadequate supplies of antiepileptic drugs all conspire to hinder appropriate treatment. Nevertheless, there have been successful attempts to provide treatment, which have shown the importance of community-based approaches and also indicate that provision for sustained intervention over the long term is necessary in any treatment programme. Approaches being adopted in the demonstration projects of the Global Campaign Against Epilepsy--implemented by the International League Against Epilepsy, the International Bureau for Epilepsy, and the World Health Organization--may provide further advances. Much remains to be done but it is hoped that current efforts will lead to better treatment of people with epilepsy in developing countries. PMID:11357214

  2. Idiopathic Interstitial Pneumonia

    PubMed Central

    Flaherty, Kevin R.; Andrei, Adin-Cristian; King, Talmadge E.; Raghu, Ganesh; Colby, Thomas V.; Wells, Athol; Bassily, Nadir; Brown, Kevin; du Bois, Roland; Flint, Andrew; Gay, Steven E.; Gross, Barry H.; Kazerooni, Ella A.; Knapp, Robert; Louvar, Edmund; Lynch, David; Nicholson, Andrew G.; Quick, John; Thannickal, Victor J.; Travis, William D.; Vyskocil, James; Wadenstorer, Frazer A.; Wilt, Jeffrey; Toews, Galen B.; Murray, Susan; Martinez, Fernando J.

    2007-01-01

    Rationale: Treatment and prognoses of diffuse parenchymal lung diseases (DPLDs) varies by diagnosis. Obtaining a uniform diagnosis among observers is difficult. Objectives: Evaluate diagnostic agreement between academic and community-based physicians for patients with DPLDs, and determine if an interactive approach between clinicians, radiologists, and pathologists improved diagnostic agreement in community and academic centers. Methods: Retrospective review of 39 patients with DPLD. A total of 19 participants reviewed cases at 2 community locations and 1 academic location. Information from the history, physical examination, pulmonary function testing, high-resolution computed tomography, and surgical lung biopsy was collected. Data were presented in the same sequential fashion to three groups of physicians on separate days. Measurements and Main Results: Each observer's diagnosis was coded into one of eight categories. A κ statistic allowing for multiple raters was used to assess agreement in diagnosis. Interactions between clinicians, radiologists, and pathologists improved interobserver agreement at both community and academic sites; however, final agreement was better within academic centers (κ = 0.55–0.71) than within community centers (κ = 0.32–0.44). Clinically significant disagreement was present between academic and community-based physicians (κ = 0.11–0.56). Community physicians were more likely to assign a final diagnosis of idiopathic pulmonary fibrosis compared with academic physicians. Conclusions: Significant disagreement exists in the diagnosis of DPLD between physicians based in communities compared with those in academic centers. Wherever possible, patients should be referred to centers with expertise in diffuse parenchymal lung disorders to help clarify the diagnosis and provide suggestions regarding treatment options. PMID:17255566

  3. Longitudinal course of epilepsy in Rett syndrome and related disorders.

    PubMed

    Tarquinio, Daniel C; Hou, Wei; Berg, Anne; Kaufmann, Walter E; Lane, Jane B; Skinner, Steven A; Motil, Kathleen J; Neul, Jeffrey L; Percy, Alan K; Glaze, Daniel G

    2017-02-01

    Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015. Clinical details were collected, and cumulative lifetime prevalence of epilepsy was determined using the Kaplan-Meier estimator. Risk factors for epilepsy were assessed using Cox proportional hazards models. Of 1205 participants enrolled in the study, 922 had classic Rett syndrome, and 778 of these were followed longitudinally for 3939 person-years. The diagnosis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence of epilepsy than those with classic Rett syndrome. While point prevalence of active seizures ranged from 30% to 44%, the estimated cumulative lifetime prevalence of epilepsy using Kaplan-Meier approached 90%. Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. In contrast, many clinical features were associated with seizure prevalence; frequency of hospitalizations, inability to walk, bradykinesia, scoliosis, gastrostomy feeding, age of seizure onset, and late age of diagnosis were independently associated with higher odds of an individual having epilepsy. Aggressive behaviour was associated with lower odds. Three distinct patterns of seizure prevalence emerged in classic Rett syndrome, including those who did not have seizures throughout the study, those who had frequent relapse and remission, and those who had relentless seizures. Although 248 of those with classic Rett

  4. Idiopathic myointimal hyperplasia of mesenteric veins and pneumatosis intestinalis: a previously unreported association.

    PubMed

    García-Castellanos, Raquel; López, Raquel; de Vega, Vicente Moreno; Ojanguren, Isabel; Piñol, Marta; Boix, Jaume; Domènech, Eugeni; Cabré, Eduard

    2011-06-01

    Idiopathic myointimal hyperplasia of mesenteric veins is a very rare disease occurring in young male patients, with no more than eight cases reported in the world literature. It causes venous ischemia in the sigmoid colon and rectum that clinically resembles inflammatory bowel disease. Pneumatosis intestinalis is also a rare condition usually associated to a wide range of diseases including bowel ischemia. We herein report on a case of pneumatosis intestinalis associated to idiopathic myointimal hyperplasia of mesenteric veins. To our knowledge, this is the first report of such an association, and the first one of idiopathic myointimal hyperplasia of mesenteric veins occurring in a female patient as well.

  5. Idiopathic burning mouth syndrome: a common treatment-refractory somatoform condition responsive to ECT.

    PubMed

    McGirr, Alexander; Davis, Lindsay; Vila-Rodriguez, Fidel

    2014-04-30

    Somatic symptom disorders are common causes of disability and suffering, and can pose significant management challenges. Idiopathic burning mouth syndrome is a challenging somatic symptom disorder with relatively high prevalence, particularly among post-menopausal women. Here, we present the case of a woman with severe treatment refractory idiopathic burning mouth syndrome and comorbid major depressive disorder, who was successfully treated with bitemporal electroconvulsive therapy. This case highlights the potential effectiveness of electroconvulsive therapy in idiopathic burning mouth syndrome when other treatment options have been exhausted.

  6. Idiopathic Sporadic Onychomadesis of Toenails

    PubMed Central

    Nitayavardhana, Sunatra

    2016-01-01

    Onychomadesis is a clinical sign of nail plate separation due to transient or permanent arrest of nail matrix activities. Onychomadesis can be considered as a severe form of Beau's line. This condition usually occurs after trauma, causal diseases, or medications, yet it rarely occurs as an idiopathic condition. We report a case of a 38-year-old Thai female who developed recurrence onychomadesis in several toenails in the absence of predisposing factors or associated conditions. To the best of our knowledge, our patient is the first reported case of idiopathic onychomadesis limited to toenails. PMID:27437152

  7. Gelastic epilepsy: Beyond hypothalamic hamartomas.

    PubMed

    Uribe-San-Martin, Reinaldo; Ciampi, Ethel; Lawson-Peralta, Balduin; Acevedo-Gallinato, Keryma; Torrealba-Marchant, Gonzalo; Campos-Puebla, Manuel; Godoy-Fernández, Jaime

    2015-01-01

    Gelastic epilepsy or laughing seizures have been historically related to children with hypothalamic hamartomas. We report three adult patients who had gelastic epilepsy, defined as the presence of seizures with a prominent laugh component, including brain imaging, surface/invasive electroencephalography, positron emission tomography, and medical/surgical outcomes. None of the patients had hamartoma or other hypothalamic lesion. Two patients were classified as having refractory epilepsy (one had biopsy-proven neurocysticercosis and the other one hippocampal sclerosis and temporal cortical dysplasia). The third patient had no lesion on MRI and had complete control with carbamazepine. Both lesional patients underwent resective surgery, one with complete seizure control and the other one with poor outcome. Although hypothalamic hamartomas should always be ruled out in patients with gelastic epilepsy, laughing seizures can also arise from frontal and temporal lobe foci, which can be surgically removed. In addition, we present the first case of gelastic epilepsy due to neurocysticercosis.

  8. The neurosurgical treatment of epilepsy.

    PubMed

    Tatum, W O; Benbadis, S R; Vale, F L

    2000-01-01

    Despite the new advancements in antiepileptic drug development, thousands of people with epilepsy will remain intractable to medication. For a considerable proportion of these people, epilepsy surgery is a consideration for better control of their seizures. Resective surgery is now standard practice for patients with medication-refractory epilepsy. Temporal lobectomy continues to be the most common surgery performed. Once patients fail 2 to 3 optimal trials of antiepileptic medication, further drug therapy offers a minimal number of patients freedom from seizures. In contrast, temporal lobectomy in carefully selected patients may result in seizure-free outcomes in more than 70% to 90% of patients with intractable seizures. As technology and drug availability increases in the new millennium, it is important for the primary care physician to be aware of epilepsy surgery as a means to treat patients with antiepileptic drug-refractory epilepsy. Arch Fam Med. 2000;9:1142-1147

  9. Neuropsychological profiles and outcomes in children with new onset frontal lobe epilepsy.

    PubMed

    Matricardi, Sara; Deleo, Francesco; Ragona, Francesca; Rinaldi, Victoria Elisa; Pelliccia, Sarah; Coppola, Giangennaro; Verrotti, Alberto

    2016-02-01

    Frontal lobe epilepsy (FLE) is the second most frequent type of localization-related epilepsy, and it may impact neurocognitive functioning with high variability. The prevalence of neurocognitive impairment in affected children remains poorly defined. This report outlines the neuropsychological profiles and outcomes in children with new onset FLE, and the impact of epilepsy-related factors, such as seizure frequency and antiepileptic drug (AED) load, on the neurocognitive development. Twenty-three consecutive children (15 males and 8 females) with newly diagnosed cryptogenic FLE were enrolled; median age at epilepsy onset was 7 years (6-9.6 years). They underwent clinical and laboratory evaluation and neuropsychological assessment before starting AED treatment (time 0) and after one year of treatment (time 1). Twenty age-matched patients affected by idiopathic generalized epilepsy (10 male and 10 females) and eighteen age-matched healthy subjects (9 males and 9 females) were enrolled as controls and underwent the same assessment. All patients with FLE showed a significant difference in almost all assessed cognitive domains compared with controls, mainly in frontal functions and memory. At time 1, patients were divided into two groups according to epilepsy-related factors: group 1 (9 patients) with persisting seizures despite AED polytherapy, and group 2 (14 patients) with good seizure control in monotherapy. A significant difference was highlighted in almost all subtests in group 1 compared with group 2, both at time 0 and at time 1. In children with FLE showing a broad range of neurocognitive impairments, the epilepsy-related factors mostly related to a worse neurocognitive outcome are poor seizure control and the use of AED polytherapy, suggesting that epileptic discharges may have a negative impact on the functioning of the involved cerebral regions.

  10. Levetiracetam: a review of its use in epilepsy.

    PubMed

    Lyseng-Williamson, Katherine A

    2011-03-05

    Levetiracetam (Keppra®, E Keppra®) is an established second-generation antiepileptic drug (AED). Worldwide, levetiracetam is most commonly approved as adjunctive treatment of partial onset seizures with or without secondary generalization; other approved indications include monotherapy treatment of partial onset seizures with or without secondary generalization, and adjunctive treatment of myoclonic seizures associated with juvenile myoclonic epilepsy and primary generalized tonic-clonic (GTC) seizures associated with idiopathic generalized epilepsy. Levetiracetam has a novel structure and unique mechanisms of action. Unlike other AEDs, the mechanisms of action of levetiracetam appear to involve neuronal binding to synaptic vesicle protein 2A, inhibiting calcium release from intraneuronal stores, opposing the activity of negative modulators of GABA- and glycin-gated currents and inhibiting excessive synchronized activity between neurons. In addition, levetiracetam inhibits N-type calcium channels. Levetiracetam is associated with rapid and complete absorption, high oral bioavailability, minimal metabolism that consists of hydrolysis of the acetamide group, and primarily renal elimination. It lacks cytochrome P450 isoenzyme-inducing potential and is not associated with clinically significant pharmacokinetic interactions with other drugs, including other AEDs. The efficacy of oral immediate-release levetiracetam in controlling seizures has been established in numerous randomized, double-blind, controlled, multicentre trials in patients with epilepsy. Adjunctive levetiracetam reduced the frequency of seizures in paediatric and adult patients with refractory partial onset seizures to a significantly greater extent than placebo. Monotherapy with levetiracetam was noninferior to that with carbamazepine controlled release in controlling seizures in patients with newly diagnosed partial onset seizures. Levetiracetam also provided seizure control relative to placebo as

  11. Therapeutic Devices for Epilepsy

    PubMed Central

    Fisher, Robert S.

    2011-01-01

    Therapeutic devices provide new options for treating drug-resistant epilepsy. These devices act by a variety of mechanisms to modulate neuronal activity. Only vagus nerve stimulation, which continues to develop new technology, is approved for use in the United States. Deep brain stimulation (DBS) of anterior thalamus for partial epilepsy recently was approved in Europe and several other countries. Responsive neurostimulation, which delivers stimuli to one or two seizure foci in response to a detected seizure, recently completed a successful multicenter trial. Several other trials of brain stimulation are in planning or underway. Transcutaneous magnetic stimulation (TMS) may provide a noninvasive method to stimulate cortex. Controlled studies of TMS split on efficacy, and may depend on whether a seizure focus is near a possible region for stimulation. Seizure detection devices in the form of “shake” detectors via portable accelerometers can provide notification of an ongoing tonic-clonic seizure, or peace of mind in the absence of notification. Prediction of seizures from various aspects of EEG is in early stages. Prediction appears to be possible in a subpopulation of people with refractory seizures and a clinical trial of an implantable prediction device is underway. Cooling of neocortex or hippocampus reversibly can attenuate epileptiform EEG activity and seizures, but engineering problems remain in its implementation. Optogenetics is a new technique that can control excitability of specific populations of neurons with light. Inhibition of epileptiform activity has been demonstrated in hippocampal slices, but use in humans will require more work. In general, devices provide useful palliation for otherwise uncontrollable seizures, but with a different risk profile than with most drugs. Optimizing the place of devices in therapy for epilepsy will require further development and clinical experience. PMID:22367987

  12. Treatment of Epilepsy

    PubMed Central

    Bailey, Allan A.

    1963-01-01

    The main clinical types of epilepsy and their treatment are described. The treatment of choice in petit mal epilepsy is trimethadione (Trimedone) 0.3 g., three to six times a day, or acetazolamide (Diamox) 125-250 mg., three to four times a day. Phenobarbital is usually given as well to prevent grand mal seizures. Diphenylhydantoin sodium (Dilantin Sodium), 100 mg., and/or phenobarbital, 30-100 mg., three to four times a day, is recommended in patients with focal and grand mal epilepsy. Psychomotor automatisms are a form of focal seizure. Primidone (Mysoline), in doses of 125-250 mg. two to three times a day, is a very useful anticonvulsant in patients with myoclonic features, psychomotor automatisms and grand mal seizures. Primidone should be started in small doses. Drug reactions, especially cerebellar ataxia in the case of diphenylhydantoin and blood dyscrasias in the case of some drugs, should be recognized. Excessive drowsiness can be avoided by proper dosage and proper timing of drug administration. Patients should be seen regularly at least two to three times a year. The objective of treatment is to achieve optimum control of seizures by using the appropriate drug in adequate dosage. Social adaptation is good in the majority of patients, who should be encouraged to carry on their life independently, usually free to marry and have children. Attention to special occupational hazards has to be considered. Education of employers and employees is often necessary. Special work arrangements are occasionally indicated for selected patients. Patients should be seizure-free for two to three years before permission is given to drive an automobile. PMID:13969008

  13. Reactions of the immune system in epilepsy

    PubMed Central

    COJOCARU, Inimioara Mihaela; COJOCARU, Manole

    2010-01-01

    ABSTRACT Epilepsy may present as a symptom of many neurological disorders and often an etiological explanation cannot be identified. There is growing evidence that autoimmune mechanisms might have a role in some patients. The evidence for immunological mechanisms in epilepsy can be examined within the following three main areas: the childhood epilepsy syndromes, epilepsy associated with other immunologically mediated diseases, and the more common unselected groups of patients with epilepsy. Autoimmunity was recently suspected to be involved in the pathology of certain human epilepsies. This includes numerous reports of the detection of theoretically relevant serum autoantibodies, experimental data showing that antibodies can be epileptogenic, and a response of some epilepsy syndromes to immunomodulation. The high prevalence of epilepsies in specific immune diseases suggests that immune system may play a role in the pathogenesis of epilepsy or might be associated with it. There is some evidence that immune mechanisms play a role in the pathogenesis of some epilepsy syndromes. PMID:21977153

  14. Theories of Impaired Consciousness in Epilepsy

    PubMed Central

    Yu, Lissa; Blumenfeld, Hal

    2015-01-01

    Although the precise mechanisms for control of consciousness are not fully understood, emerging data show that conscious information processing depends on the activation of certain networks in the brain and that the impairment of consciousness is related to abnormal activity in these systems. Epilepsy can lead to transient impairment of consciousness, providing a window into the mechanisms necessary for normal consciousness. Thus, despite differences in behavioral manifestations, cause, and electrophysiology, generalized tonic–clonic, absence, and partial seizures engage similar anatomical structures and pathways. We review prior concepts of impaired consciousness in epilepsy, focusing especially on temporal lobe complex partial seizures, which are a common and debilitating form of epileptic unconsciousness. We discuss a “network inhibition hypothesis” in which focal temporal lobe seizure activity disrupts normal cortical–subcortical interactions, leading to depressed neocortical function and impaired consciousness. This review of the major prior theories of impaired consciousness in epilepsy allows us to put more recent data into context and to reach a better understanding of the mechanisms important for normal consciousness. PMID:19351355

  15. Epilepsy in Dante's poetry.

    PubMed

    Mula, Marco

    2016-04-01

    Dante Alighieri is the greatest Italian poet and one of the most important writers in Western literature. He is best known for the epic poem "Commedia", later named "La Divina Commedia" that has profoundly influenced not only poetic imagination but also all subsequent allegorical creations of imaginary worlds in literature. This paper examines the poetic description of some episodes of loss of consciousness in Dante's poetry discussing how and why typical elements of epileptic seizures have been used. On the 750th anniversary of Dante's birth, his poetry still remains to be an inspiring source of debate and reflection. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  16. Evaluation of Glutamic Acid Decarboxylase Antibody Levels in Patients with Juvenile Myoclonic Epilepsy and Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis

    PubMed Central

    CEYHAN DİRİCAN, Ayten; ELİBİRLİK, Sevilay; KÖKSAL, Ayhan; ÖZTÜRK, Musa; ALTUNKAYNAK, Yavuz; BAYBAŞ, Sevim; DİRİCAN, Ahmet

    2016-01-01

    Introduction Several clinical studies have been conducted to investigate the role of autoantibodies and immunological mechanisms in the etiology of treatment-resistant epilepsy in recent years. Some immunological treatments have been suggested as a result of these studies. In this study, we aimed to investigate the role of autoimmunity in partial and idiopathic generalized epilepsy and determine the relationship between drug resistance and autoimmune antibodies. Methods Twenty-eight patients (24 treatment-responsive and 4 treatment-resistant) with juvenile myoclonic epilepsy (JME), 26 patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS) resistant to antiepileptic drug treatment, and 26 age-matched healthy control subjects were included in a two-year cross sectional study. Glutamic acid decarboxylase antibody (GADA) levels were measured with a radioimmunoassay method in the serum of the included subjects. Results High GADA titers were detected in 2 patients with JME (7.1%), 1 patient with MTLEHS (3.8%), and 1 healthy subject (3.8%). There was no statistically significant difference among the groups regarding the serum GADA level. Although a limited number of drug-resistant patients with JME our study did not show relationships among anti-GADAs, both epileptic syndromes and drug resistance. Conclusion Because we did not determine any significant relationship between GADA levels and JME or MTLEHS, we do not recommend analysis of serum GADA levels in routine examinations where there is no evidence to suggest risk factors for autoimmunity. PMID:28373803

  17. Epilepsy Surgery: An Evidence Summary

    PubMed Central

    2012-01-01

    Background The Medical Advisory Secretariat, the predecessor of Health Quality Ontario, published an evidence-based analysis on functional brain imaging. This analysis highlighted the low uptake of epilepsy surgery in Ontario and internationally. Objective The objective of this analysis was to review the effectiveness of epilepsy surgery at reducing seizure frequency, as well as the safety of epilepsy surgery. Data Sources The literature search included studies published between January 1995 and March 2012. Search terms included epilepsy, surgery, resection, safety, and complications. Review Methods Studies were eligible for inclusion if they included at least 20 patients undergoing surgery; had a comparison group of patients with epilepsy who were not undergoing surgery; and reported follow-up periods of at least 1 year. Outcomes of interest included seizure frequency and complications associated with surgery. Results Six systematic reviews reported pooled seizure-free rates that ranged from 43% to 75%. Two randomized controlled trials compared the effectiveness of epilepsy surgery with no surgery in patients with drug-refractory epilepsy. Both trials reported significant improvements in the seizure frequency in the surgery group compared with the nonsurgery group. Eight retrospective cohort studies reported on the safety of epilepsy surgery. Of the 2,725 patients included in these studies, there were 3 deaths reportedly related to surgery. Other complications included hemiparesis, infection, and visual field defects. The studies had long follow-up periods ranging from a mean of 2 to 7 years. Limitations The most recent randomized controlled trial was stopped early due to slow enrolment rates. Thus results need to be interpreted with caution. Conclusions There is high quality evidence that epilepsy surgery is effective at reducing seizure frequency. Two randomized controlled trials compared surgery to no surgery in patients with drug-refractory epilepsy. Both

  18. Hippocampus and epilepsy: findings from human tissues

    PubMed Central

    Huberfeld, Gilles; Blauwblomme, Thomas; Miles, Richard

    2015-01-01

    Surgical removal of the epileptogenic zone provides an effective therapy for several epileptic syndromes. This surgery offers the opportunity to study pathological activity in living human tissue for pharmacoresistant partial epilepsy syndromes including (1) temporal lobe epilepsies with hippocampal sclerosis, (2) cortical dysplasias, (3) epilepsies associated with tumors and (4) developmental malformations. Slices of tissue from patient with these syndromes retain functional neuronal networks and may generate epileptic activities. The properties of cells in this tissue may not be greatly changed, but excitatory synaptic transmission is often enhanced and GABAergic inhibition is preserved. Typically epileptic activity is not generated spontaneously by the neocortex, whether dysplastic or not, but can be induced by convulsants. The initiation of ictal discharges in neocortex depends on both GABAergic signaling and increased extracellular potassium. In contrast, a spontaneous interictal-like activity is generated by tissues from patients with temporal lobe epilepsies associated with hippocampal sclerosis. This activity is initiated, not in the hippocampus but in the subiculum an output region which projects to the entorhinal cortex. Interictal events seem to be triggered by GABAergic cells which paradoxically excite about 20% of subicular pyramidal cells while simultaneously inhibiting the majority. Interictal discharges thus depend on both GABAergic and glutamatergic signaling. The depolarizing effects of GABA depend on a pathological elevation in levels of chloride in some subicular cells, similar to those of developmentally immature cells. Such defect is caused by a perturbed expression of the cotransporters regulating intracellular chloride concentration, the importer NKCC1 and the extruder KCC2. Blockade of NKCC1 actions by the diuretic bumetanide, restores intracellular chloride and thus hyperpolarizing GABAergic actions so suppressing interictal activity. PMID

  19. Temporal plus epilepsy is a major determinant of temporal lobe surgery failures.

    PubMed

    Barba, Carmen; Rheims, Sylvain; Minotti, Lorella; Guénot, Marc; Hoffmann, Dominique; Chabardès, Stephan; Isnard, Jean; Kahane, Philippe; Ryvlin, Philippe

    2016-02-01

    Reasons for failed temporal lobe epilepsy surgery remain unclear. Temporal plus epilepsy, characterized by a primary temporal lobe epileptogenic zone extending to neighboured regions, might account for a yet unknown proportion of these failures. In this study all patients from two epilepsy surgery programmes who fulfilled the following criteria were included: (i) operated from an anterior temporal lobectomy or disconnection between January 1990 and December 2001; (ii) magnetic resonance imaging normal or showing signs of hippocampal sclerosis; and (iii) postoperative follow-up ≥ 24 months for seizure-free patients. Patients were classified as suffering from unilateral temporal lobe epilepsy, bitemporal epilepsy or temporal plus epilepsy based on available presurgical data. Kaplan-Meier survival analysis was used to calculate the probability of seizure freedom over time. Predictors of seizure recurrence were investigated using Cox proportional hazards model. Of 168 patients included, 108 (63.7%) underwent stereoelectroencephalography, 131 (78%) had hippocampal sclerosis, 149 suffered from unilateral temporal lobe epilepsy (88.7%), one from bitemporal epilepsy (0.6%) and 18 (10.7%) from temporal plus epilepsy. The probability of Engel class I outcome at 10 years of follow-up was 67.3% (95% CI: 63.4-71.2) for the entire cohort, 74.5% (95% CI: 70.6-78.4) for unilateral temporal lobe epilepsy, and 14.8% (95% CI: 5.9-23.7) for temporal plus epilepsy. Multivariate analyses demonstrated four predictors of seizure relapse: temporal plus epilepsy (P < 0.001), postoperative hippocampal remnant (P = 0.001), past history of traumatic or infectious brain insult (P = 0.022), and secondary generalized tonic-clonic seizures (P = 0.023). Risk of temporal lobe surgery failure was 5.06 (95% CI: 2.36-10.382) greater in patients with temporal plus epilepsy than in those with unilateral temporal lobe epilepsy. Temporal plus epilepsy represents a hitherto unrecognized prominent cause of

  20. Idiopathic CD4 Lymphocytopenia

    PubMed Central

    Régent, Alexis; Autran, Brigitte; Carcelain, Guislaine; Cheynier, Rémi; Terrier, Benjamin; Charmeteau-De Muylder, Bénédicte; Krivitzky, Alain; Oksenhendler, Eric; Costedoat-Chalumeau, Nathalie; Hubert, Pascale; Lortholary, Olivier; Dupin, Nicolas; Debré, Patrice; Guillevin, Loïc; Mouthon, Luc

    2014-01-01

    Abstract Idiopathic CD4 T lymphocytopenia (ICL) is a rare and severe condition with limited available data. We conducted a French multicenter study to analyze the clinical and immunologic characteristics of a cohort of patients with ICL according to the Centers for Disease Control criteria. We recruited 40 patients (24 female) of mean age 44.2 ± 12.2 (19–70) years. Patients underwent T-lymphocyte phenotyping and lymphoproliferation assay at diagnosis, and experiments related to thymic function and interferon (IFN)-γ release by natural killer (NK) cell were performed. Mean follow-up was 6.9 ± 6.7 (0.14–24.3) years. Infectious, autoimmune, and neoplastic events were recorded, as were outcomes of interleukin 2 therapy. In all, 25 patients had opportunistic infections (12 with human papillomavirus infection), 14 had autoimmune symptoms, 5 had malignancies, and 8 had mild or no symptoms. At the time of diagnosis, the mean cell counts were as follows: mean CD4 cell count: 127/mm3 (range, 4–294); mean CD8: 236/mm3 (range, 1–1293); mean CD19: 113/mm3 (range, 3–547); and mean NK cell count: 122/mm3 (range, 5–416). Most patients had deficiency in CD8, CD19, and/or NK cells. Cytotoxic function of NK cells was normal, and patients with infections had a significantly lower NK cell count than those without (p = 0.01). Patients with autoimmune manifestations had increased CD8 T-cell count. Proliferation of thymic precursors, as assessed by T-cell rearrangement excision circles, was increased. Six patients died (15%). CD4 T-cell count <150/mm3 and NK cell count <100/mm3 were predictors of death. In conclusion, ICL is a heterogeneous disorder often associated with deficiencies in CD8, CD19, and/or NK cells. Long-term prognosis may be related to initial CD4 and NK cell deficiency. PMID:24646462

  1. Idiopathic atrophie blanche.

    PubMed

    Amato, Lauretta; Chiarini, Caterina; Berti, Samantha; Massi, Daniela; Fabbri, Paolo

    2006-01-01

    clinical, serologic, histopathologic, and immunopathologic findings, a diagnosis of idiopathic atrophie blanche was made. The patient was treated with dapsone (50 mg p.o. q.d.) and pentoxifylline (400 mg p.o. t.i.d.) with pain relief and complete resolution of the ulcerations after 6 weeks of therapy.

  2. Rapamycin attenuates the development of posttraumatic epilepsy in a mouse model of traumatic brain injury.

    PubMed

    Guo, Dongjun; Zeng, Linghui; Brody, David L; Wong, Michael

    2013-01-01

    Posttraumatic epilepsy is a major source of disability following traumatic brain injury (TBI) and a common cause of medically-intractable epilepsy. Previous attempts to prevent the development of posttraumatic epilepsy with treatments administered immediately following TBI have failed. Recently, the mammalian target of rapamycin complex 1 (mTORC1) pathway has been implicated in mechanisms of epileptogenesis and the mTORC1 inhibitor, rapamycin, has been proposed to have antiepileptogenic effects in preventing some types of epilepsy. In this study, we have tested the hypothesis that rapamycin has antiepileptogenic actions in preventing the development of posttraumatic epilepsy in an animal model of TBI. A detailed characterization of posttraumatic epilepsy in the mouse controlled cortical impact model was first performed using continuous video-EEG monitoring for 16 weeks following TBI. Controlled cortical impact injury caused immediate hyperactivation of the mTORC1 pathway lasting at least one week, which was reversed by rapamycin treatment. Rapamycin decreased neuronal degeneration and mossy fiber sprouting, although the effect on mossy fiber sprouting was reversible after stopping rapamycin and did not directly correlate with inhibition of epileptogenesis. Most posttraumatic seizures occurred greater than 10 weeks after TBI, and rapamycin treatment for one month after TBI decreased the seizure frequency and rate of developing posttraumatic epilepsy during the entire 16 week monitoring session. These results suggest that rapamycin may represent a rational treatment for preventing posttraumatic epilepsy in patients with TBI.

  3. WONOEP appraisal: new genetic approaches to study epilepsy

    PubMed Central

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  4. Treatment of epilepsy in adults.

    PubMed

    Burakgazi, Evren; French, Jacqueline A

    2016-09-01

    Epilepsy is a chronic neurological disorder in adults and requires treatment with antiepileptic medication. While the majority of patients with epilepsy can be treated with medication, about one third will fail on medical treatment. Therefore, other treatment options such as surgery, devices, and the ketogenic diet are other options to consider, in addition to medical treatment. The treatment of epilepsy requires many other factors to be taken into consideration, and these include, but are not limited to, age, gender, coexistent medical conditions, and the use of concomitant medications. The goal of treatment is to provide optimal seizure control while using the least possible number of medications, particularly for young females at reproductive age or the elderly who may suffer from other medical diseases and receive other concomitant medications. Certain conditions may co-exist with epilepsy, such as migraine, mood disorder, and memory disturbances, therefore the decision to choose the most appropriate medication for epilepsy patients should also involve treatment of these conditions. Here, we review current clinical practice in epilepsy and focus on the most common problems and conditions that clinicians face on a daily basis to treat adult patients with epilepsy. Side effect profiles, spectrum of efficacy and optimal choices per predominant type of seizures are summarized and can be used for educational purposes.

  5. Natural approaches to epilepsy.

    PubMed

    Gaby, Alan R

    2007-03-01

    This article reviews research on the use of diet, nutritional supplements, and hormones in the treatment of epilepsy. Potentially beneficial dietary interventions include identifying and treating blood glucose dysregulation, identifying and avoiding allergenic foods, and avoiding suspected triggering agents such as alcohol, aspartame, and monosodium glutamate. The ketogenic diet may be considered for severe, treatment-resistant cases. The Atkins diet (very low in carbohydrates) is a less restrictive type of ketogenic diet that may be effective in some cases. Nutrients that may reduce seizure frequency include vitamin B6, magnesium, vitamin E, manganese, taurine, dimethylglycine, and omega-3 fatty acids. Administration of thiamine may improve cognitive function in patients with epilepsy. Supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anticonvulsant drugs. Vitamin K1 has been recommended near the end of pregnancy for women taking anticonvulsants. Melatonin may reduce seizure frequency in some cases, and progesterone may be useful for women with cyclic exacerbations of seizures. In most cases, nutritional therapy is not a substitute for anticonvulsant medications. However, in selected cases, depending on the effectiveness of the interventions, dosage reductions or discontinuation of medications may be possible.

  6. Managing epilepsy in pregnancy.

    PubMed

    Thomas, Sanjeev V

    2011-01-01

    There are close to one and half million women with epilepsy (WWE) in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of infertility. About 10% of their babies may have major congenital malformations. Most of the adverse biological outcomes for WWE are related to adverse effects of antiepileptic drugs (AEDs). Traditional AEDs like phenobarbitone and sodium valproate are probably associated with increased risk of fetal malformations or other adverse fetal outcomes. Polytherapy and use of high dose of any AED is associated with higher risk fetal complications. It is very important that all WWE have a preconception evaluation done by a neurologist, when the need to continue AEDs or possibility of reducing AED load could be assessed. All WWE need to take folic acid 5 mg daily during preconception period and pregnancy. They should undergo a detailed screening for fetal malformations between 12 and 18 weeks of pregnancy. The neurologist, gynecologist, imageologist and pediatrician need to work as a team while managing pregnancy in WWE. It is important to reassure WWE and their relatives that pregnancy is safe in WWE and their children are healthy in more than 90% instances.

  7. Phenotype definition in epilepsy.

    PubMed

    Winawer, Melodie R

    2006-05-01

    Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.

  8. Crohn's disease mistaken for long-standing idiopathic mesenteric panniculitis

    PubMed Central

    Nuzzo, Alexandre; Zappa, Magaly; Cazals-Hatem, Dominique; Bouhnik, Yoram

    2016-01-01

    Abstract Background: Mesenteric panniculitis (MP) is mostly an associated sign of an intra-abdominal or systemic inflammatory primary disease. Nevertheless, etiological and differential diagnosis of idiopathic MP can be challenging when an associate primary cause is not in the foreground. Methods: We report here the case of an isolated small bowel Crohn's disease, long time considered as idiopathic MP. Results: This patient presented to our department with a 10-year history of acute abdominal symptoms evolving with flare-up and remission. A diagnosis of idiopathic MP was made based on compatible CT-scan features along with normal laboratory tests and upper and lower bowel endoscopies. As symptoms recurred, a steroid course was proposed which dramatically improved his condition for years. Finally, an explorative laparoscopy was performed because of concern of malignancy when he returned to our unit with a steroid refractory flare-up and weight loss, along with MP nodes growing up to 10 mm. Crohn's disease was eventually diagnosed, based on histopathological middle-gut bowel resection and numerous granulomas in mesenteric nodes without necrosis. Conclusion: This case emphasizes the importance of excluding inflammatory intestinal lesions before making the diagnosis of idiopathic MP (fecal calprotectin, magnetic resonance enterography, wireless capsule endoscopy). PMID:27684882

  9. Idiopathic giant cell myocarditis in childhood: A case report.

    PubMed

    Pehlivan, Sultan; Akçan, Ramazan; Heybet, Eyup Ruşen; Cavlak, Mehmet; Pehlivan, Ali

    2016-03-01

    Idiopathic giant cell myocarditis is a rare entity of unknown origin, which causes sudden death in more than half of the affected patients. It is rarely seen in childhood, and might result in death due to heart failure and ventricular arrhythmias. Idiopathic giant cell myocarditis is mostly diagnosed at autopsy incidentally. Here we present a rare case of childhood idiopathic giant cell myocarditis. A 10-year old boy found dead in his bed in the morning. Interview with family members revealed death the boy was in good health conditions apart from being overweight. At autopsy, external examination was completely normal. Internal examination revealed normal findings; the heart was 297g and macroscopically normal. No traces of any toxic agents detected in complete toxicological analyses. Areas characterized with granulomatous lesions, lymphocytes, histiocytes, and multinucleated giant cells were observed in myocardium at histopathological examination. No necrosis was observed in granulomatous areas. Tuberculosis was negative in the PCR assays. There were no signs indicative of fungal infection, and clinical status of the case was not compatible with the sarcoidosis. In this respect death was attributed to idiopathic giant cell myocarditis.

  10. Illness perceptions of neurologists and psychiatrists in relation to epilepsy and nonepileptic attack disorder.

    PubMed

    Whitehead, Kimberley; Reuber, Markus

    2012-03-01

    Previous studies have demonstrated that the illness perceptions of doctors can affect treatment outcomes. This is likely to be particularly relevant in chronic disorders such as epilepsy or nonepileptic attack disorder (NEAD) in which treatment success depends on adherence to tablet treatments with significant side effects or a potentially difficult process of engagement in psychological treatment. This study describes the illness perceptions of neurologists and psychiatrists to epilepsy and NEAD. 85 doctors (45 neurologists and 40 psychiatrists) completed the adapted Illness Perception Questionnaire-Revised (IPQ-R) and the Symptom Attribution Question for epilepsy and NEAD. Both groups of doctors thought that patients with NEAD had greater personal control over their condition than patients with epilepsy (p<.02) and that NEAD was a more cyclical condition than epilepsy (p<.001). Both groups of doctors professed a greater understanding of epilepsy than NEAD (p<.001). Psychiatrists alone believed epilepsy to be more chronic than NEAD (p=.002). Psychiatrists felt that epilepsy had less of an emotional impact on patients (p=.004) and were more likely to endorse psychological causes for epilepsy (p=.008) when compared to neurologists. Psychiatrists felt that NEAD had less negative consequences (p=.014) and were more likely to endorse nonpsychological causes for NEAD (p=.020) when compared to neurologists. The IPQ-R and Symptom Attribution Question demonstrated important differences in attitudes of neurologists and psychiatrists towards epilepsy and NEAD. Different attitudes towards the two seizure disorders may cause problems with communication and treatment if patients are referred from one speciality to the other.

  11. [Images of epilepsy in Shakespeare].

    PubMed

    Breuer, Horst

    2002-01-01

    Epilepsy and the "falling sickness" are mentioned three times in Shakespeare, in Julius Caesar, I.ii, Othello, IV.i., and figuratively in King Lear, II.ii. The present article surveys these passages in the context of modern research findings, literary as well as medico-historical. It adds further material from Renaissance texts and concludes that epilepsy is an omnibus term for a variety of symptoms and pathological conditions, and that Shakespeare's idea of epilepsy is closer to popular stereotypes than has hitherto been assumed.

  12. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

    PubMed

    Fujiwara, Tateki

    2006-08-01

    Severe myoclonic epilepsy in infancy (SMEI) manifests very frequent generalized tonic-clonic seizures (GTC), accompanied by myoclonic seizures, absences and partial seizures [Dravet, C., 1978. Les épilepsie grave de l'enfant. Vie Méd. 8, 543-548; Dravet, C., Roger, J., Bureau, M., Dalla Bernardina, B., 1982. Myoclonic epilepsies in childhood. In: Akimoto, H., Kazamatsuri, H., Seino, M., Ward, A. (Eds.), Advances in Epileptology. Raven Press, New York, pp. 135-140; Dravet, C., Bureau, M., Oguni, H., Fukuyama, Y., Cokar, O., 2002. Severe myoclonic epilepsy of infancy (Dravet syndrome). In: Roger, J., Bureau, M., Dravet, C., Genton, P., Tassinari, C.A., Wolf, P. (Eds.), Epileptic Syndromes in Infancy, Childhood and Adolescence, third ed. John Libbey, London, pp. 81-103]. However, there is a group of severe epilepsy that has many characteristics common to SMEI except for myoclonic seizures. We reported this group of epilepsy as intractable childhood epilepsy with GTC (ICEGTC) [Watanabe, M., Fujiwara, T., Yagi, K., Seino, M., Higashi, T., 1989b. Intractable childhood epilepsy with generalized tonic-clonic seizures. J. Jpn. Epil. Soc. 7, 96-105 (in Japanese); Fujiwara, T., Watanabe, M., Takahashi, Y., Higashi, T., Yagi, K., Seino, M., 1992. Long-term course of childhood epilepsy with intractable grand mal seizures. Jpn. J. Psychiatr. Neurol. 46, 297-302]. Recently, mutations of the neuronal voltage-gated sodium channel alphasubunit type 1 gene (SCN1A) have been found in SMEI [Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P., 2001, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 327-1332]. Mutations in SCN1A are found in both SMEI and ICEGTC at high rates of 70-81%. The loci of the mutations seen in ICEGTC are quite similar to those found in SMEI, suggesting a genotypic continuity between these entities. The clinical spectrum of epilepsies harboring SCN1A

  13. “It is always HIV/AIDS and TB”: Home-based carers’ perspectives on epilepsy in Cape Town, South Africa

    PubMed Central

    Keikelame, Mpoe Johannah; Swartz, Leslie

    2016-01-01

    The study highlights the complex cultural religious factors affecting epilepsy and a need for integrated home-based care services. Two focus group discussions exploring home-based carers’ (HBCs) perspectives on epilepsy were conducted using a semi-structured focus group interview guide, which was based on Kleinman's explanatory model framework. The audio-recorded data were transcribed verbatim, and a thematic analysis was done. The three main themes were epilepsy names and metaphors, religious beliefs about the cause and treatment of epilepsy, and HBCs’ perceived roles and strategies for engaging in epilepsy care. Findings provide some insights for research, policy, and practice. PMID:27258583

  14. Did St Birgitta suffer from epilepsy? A neuropathography.

    PubMed

    Landtblom, Anne-Marie

    2004-04-01

    Several famous religious personalities have been discussed as possibly having had epilepsy. Partial epileptic fits can be accompanied by religious experiences. The Swedish St Birgitta of Vadstena is focused on from this perspective as the exterior of the skull thought to belong to her has a prominent tuberculum with a corresponding interior indentation possibly indicating the previous existence of a meningioma, a well known cause of epilepsy. This article scrutinises arguments for and against the possibility of epileptic features in the revelations of the saint, as well as in her life story.

  15. Research priorities in epilepsy for the Asia-Oceanian region.

    PubMed

    Kwan, Patrick; Cabral-Lim, Leonor; D'Souza, Wendyl; Jain, Satish; Lee, Byung-In; Liao, Weiping; Lim, Shih-Hui; Otsuki, Taisuke; Tan, Chong-Tin; Wantanabe, Masako

    2015-05-01

    The Asia-Oceanian region is the most populous region in the world. Although there has been substantial economic development and improvement in health services in recent years, epilepsy remains generally an underrecognized and understudied condition. To help promote research in the region, the Commission on Asian and Oceanian Affairs (CAOA) of the International League Against Epilepsy (ILAE) appointed the Research Task Force (RTF) to facilitate the development of research priorities for the region. Research that focuses on issues that are unique or of particular importance in the Asia-Oceanian region is encouraged, and that captures the impact of the dynamic socioeconomic changes taking place in the region is emphasized. Based on these considerations, we propose research "dimensions" as priorities within the Asia-Oceanian region. These are studies (1) that would lead to fuller appreciation of the health burden of epilepsy, particularly the treatment gap; (2) that would lead to better understanding of the causes of epilepsy; (3) that would alleviate the psychosocial consequences of epilepsy; (4) that would develop better therapies and improved therapeutic outcomes; and (5) that would improve the research infrastructure.

  16. Telemedicine for Epilepsy Support in Resource-Poor Settings

    PubMed Central

    Patterson, Victor

    2014-01-01

    The Problem: Epilepsy is a common disease worldwide causing significant physical and social disability. It is one of the most treatable neurological diseases. Yet, in rural, poorer countries like much of India and Nepal, most people with epilepsy are not undergoing any treatment often because they cannot access doctors. Conventional Approaches: It is being appreciated that perhaps doctors are not the solution and that enabling health workers to treat epilepsy may be better. Few details, however, have been put forward about how that might be achieved. Thinking Differently: Untreated epilepsy should be considered a public health problem like HIV/AIDS, the various steps needed for treatment identified and solutions found. Telemedicine Approaches: Telemedicine might contribute to two steps – diagnosis and review. A tool that enables non-doctors to diagnose episodes as epileptic has been developed as a mobile phone app and has good applicability, sensitivity, and specificity for the diagnosis. There are a number of ways in which the use of phone review or short messaging service can improve management. Conclusion: Telemedicine, as part of a public health program, can potentially help the millions of people in the resource-poor world with untreated epilepsy. PMID:25191650

  17. Epilepsy Imaging Study Guideline Criteria

    PubMed Central

    Gaillard, William D; Cross, J Helen; Duncan, John S; Stefan, Hermann; Theodore, William H

    2011-01-01

    Recognition of limited economic resources, as well as potential adverse effects of ‘over testing,’ has increased interest in ‘evidence-based’ assessment of new medical technology. This creates a particular problem for evaluation and treatment of epilepsy, increasingly dependent on advanced imaging and electrophysiology, since there is a marked paucity of epilepsy diagnostic and prognostic studies that meet rigorous standards for evidence classification. The lack of high quality data reflects fundamental weaknesses in many imaging studies but also limitations in the assumptions underlying evidence classification schemes as they relate to epilepsy, and to the practicalities of conducting adequately powered studies of rapidly evolving technologies. We review the limitations of current guidelines and propose elements for imaging studies that can contribute meaningfully to the epilepsy literature. PMID:21740417

  18. Neuropsychological profile of adult patients with nonsymptomatic occipital lobe epilepsies.

    PubMed

    Bilo, Leonilda; Santangelo, Gabriella; Improta, Ilaria; Vitale, Carmine; Meo, Roberta; Trojano, Luigi

    2013-02-01

    To explore the neuropsychological and neurobehavioral profile in adult patients affected by nonsymptomatic (cryptogenic and idiopathic) occipital lobe epilepsy (OLE), with normal intelligence, we enrolled 20 adult patients with nonsymptomatic OLE and 20 age-, sex-, and education-matched healthy subjects. All participants underwent neuropsychiatric assessment scales, and standardized neuropsychological tests tapping memory, executive functions, constructional, visuospatial and visuoperceptual skills. After Bonferroni correction for multiple comparisons, patients performed significantly worse than controls on several tests tapping complex visuospatial skills and frontal lobe functions. The analysis of single patients' performance revealed that a significantly higher number of OLE patients achieved age- and education-adjusted pathological scores on three tests (Benton Judgment of Line Orientation Test, Freehand Copying of Drawings Test, color-word interference task of Stroop test) with respect to controls. Patients did not differ from control subjects on neuropsychiatric aspects. The direct comparison between OLE subtypes showed that cryptogenetic OLE patients tended to achieve lower scores than idiopathic OLE patients on most tests, but no difference between the two groups was fully significant. In summary, patients with nonsymptomatic OLE can be affected by clinically relevant impairments in selected neuropsychological domains: complex visuospatial skills and executive functions. It could be speculated that frontal and visuospatial cognitive deficits might be the result of epileptic activity spreading within a neural network that includes structures far beyond the occipital lobe.

  19. Idiopathic pulmonary hemosiderosis - a diagnostic challenge

    PubMed Central

    2014-01-01

    Idiopathic pulmonary hemosiderosis is a rare disorder that can occur at any age and is characterized by the triad of hemoptysis, iron deficiency anemia and diffuse pulmonary infiltrates. The clinical course is exceedingly variable especially in children and a substantial proportion of this age group is undiagnosed. It is probably due to the fact that iron deficiency anemia may be the first and the only manifestation of IPH, preceding other symptoms and signs by several months and IPH is not considered as a rare cause of anemia, unless the typical triad is present. We present a case of IPH in a 13-year-old girl, treated for several months with persistent iron deficiency anemia, without response to therapy. PMID:24708654

  20. [Idiopathic hypersomnia of the central nervous system].

    PubMed

    Bové-Ribé, A

    Idiopathic hypersomnia of the central nervous system is a cause of excessive diurnal somnolence which affects 5-10% of the patients who attend sleep clinics for this reason. We describe three male patients who consulted for excessive diurnal somnolence. Nocturnal polysomnographic studies followed by tests for multiple latencies of sleep were done. In all cases there was confirmation of lengthening of the time of nocturnal sleep with normal phases of sleep and an increase in the number of sleep spindles in phase II. Similarly there was an average latency of sleep of less than 10 minutes and fewer than two phases of REM in the multiple latencies test. All patients improved with drugs stimulating vigil, two of them with centramine and the third with methilphenidate. We consider the clinical data the polysomnographic criteria which help to establish the diagnosis.

  1. Acute Exacerbations of Idiopathic Pulmonary Fibrosis

    PubMed Central

    Collard, Harold R.; Moore, Bethany B.; Flaherty, Kevin R.; Brown, Kevin K.; Kaner, Robert J.; King, Talmadge E.; Lasky, Joseph A.; Loyd, James E.; Noth, Imre; Olman, Mitchell A.; Raghu, Ganesh; Roman, Jesse; Ryu, Jay H.; Zisman, David A.; Hunninghake, Gary W.; Colby, Thomas V.; Egan, Jim J.; Hansell, David M.; Johkoh, Takeshi; Kaminski, Naftali; Kim, Dong Soon; Kondoh, Yasuhiro; Lynch, David A.; Müller-Quernheim, Joachim; Myers, Jeffrey L.; Nicholson, Andrew G.; Selman, Moisés; Toews, Galen B.; Wells, Athol U.; Martinez, Fernando J.

    2007-01-01

    The natural history of idiopathic pulmonary fibrosis (IPF) has been characterized as a steady, predictable decline in lung function over time. Recent evidence suggests that some patients may experience a more precipitous course, with periods of relative stability followed by acute deteriorations in respiratory status. Many of these acute deteriorations are of unknown etiology and have been termed acute exacerbations of IPF. This perspective is the result of an international effort to summarize the current state of knowledge regarding acute exacerbations of IPF. Acute exacerbations of IPF are defined as acute, clinically significant deteriorations of unidentifiable cause in patients with underlying IPF. Proposed diagnostic criteria include subjective worsening over 30 days or less, new bilateral radiographic opacities, and the absence of infection or another identifiable etiology. The potential pathobiological roles of infection, disordered cell biology, coagulation, and genetics are discussed, and future research directions are proposed. PMID:17585107

  2. Transition to adult life in the monogenic epilepsies.

    PubMed

    Scheffer, Ingrid E; Dravet, Charlotte

    2014-08-01

    There are many monogenic disorders associated with epilepsy that begin in childhood and persist into adult life. Each of these disorders raises specific issues for transition, in addition to common issues facing this group of patients as they move from pediatric to adult care. Such comorbidities include psychiatric and movement disorders. Epileptic encephalopathies may be caused by monogenic disorders, with Dravet syndrome being the best characterized. Although some patients have a relatively good adult outcome, others have persisting severe epilepsy complicated by autistic spectrum disorder and problems with gait. When reevaluating a patient as they transition to adult care, a thorough reconsideration of the genetic etiology of their epilepsy should be performed. This should be followed by genetic counseling for the patient and their family members.

  3. Sudden unexpected death in epilepsy: Identifying risk and preventing mortality.

    PubMed

    Lhatoo, Samden; Noebels, Jeffrey; Whittemore, Vicky

    2015-11-01

    Premature death among individuals with epilepsy is higher than in the general population, and sudden unexpected death is the most common cause of this mortality. A new multisite collaborative research consortium, the Center for sudden unexpected death in epilepsy (SUDEP) Research (CSR), has received major funding from the National Institutes of Health (NIH) to examine the possible biologic mechanisms underlying this potentially preventable comorbidity and develop predictive biomarkers for interventions that could lower SUDEP incidence. This inaugural report describes the structure of the CSR, its priorities for human and experimental research, and the strategic collaborations and advanced tools under development to reduce this catastrophic outcome of epilepsy. The CSR Partners Program will work closely with committed volunteer agencies, industry, and academic institutions to accelerate and communicate these advances to the professional and lay community.

  4. Quinidine in the Treatment of KCNT1-Positive Epilepsies

    PubMed Central

    Mikati, Mohamad A; Jiang, Yong-hui; Carboni, Michael; Shashi, Vandana; Petrovski, Slave; Spillmann, Rebecca; Milligan, Carol J.; Li, Melody; Grefe, Annette; McConkie, Allyn; Berkovic, Samuel; Scheffer, Ingrid; Mullen, Saul; Bonner, Melanie; Petrou, Steven; Goldstein, David

    2016-01-01

    We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epilepsies. PMID:26369628

  5. Quinidine in the treatment of KCNT1-positive epilepsies.

    PubMed

    Mikati, Mohamad A; Jiang, Yong-Hui; Carboni, Michael; Shashi, Vandana; Petrovski, Slave; Spillmann, Rebecca; Milligan, Carol J; Li, Melody; Grefe, Annette; McConkie, Allyn; Berkovic, Samuel; Scheffer, Ingrid; Mullen, Saul; Bonner, Melanie; Petrou, Steven; Goldstein, David

    2015-12-01

    We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epilepsies.

  6. Autism Spectrum Disorder and Epilepsy: disorders with a shared biology

    PubMed Central

    Lee, Bo Hoon; Smith, Tristram; Paciorkowski, Alex R.

    2015-01-01

    There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information is available regarding the genetic causes of both disorders. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available to practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. PMID:25900226

  7. Orthodontic treatment in patient with idiopathic root resorption: A case report

    PubMed Central

    Rey, Diego; Smit, Rosana Martínez; Gamboa, Liliana

    2015-01-01

    Multiple idiopathic external root resorption is a rare pathological condition usually detected as an incidental radiographic finding. External root resorption of permanent teeth is a multifactorial process related to several local and systemic factors. If an etiological factor cannot be identified for root resorption, the term "idiopathic" is applied. This report presents a case of multiple idiopathic apical root resorption. The condition was found in a young female patient seeking orthodontic treatment due to malocclusion. This kind of resorption starts apically and progresses coronally, causing a gradual shortening and rounding of the remaining root. Patients with this condition are not the ideal candidates for orthodontic treatment; however, the aim of this report is to describe an unusual case of idiopathic root resorption involving the entire dentition, and to present the orthodontic treatment of this patient. It describes the progress and completion of orthodontic therapy with satisfactory end results. PMID:25741832

  8. [Hemiconvulsion-hemiplegia-epilepsy syndrome in a girl with adrenogenital syndrome].

    PubMed

    Vestergaard, Maiken; Uldall, Peter

    2014-12-15

    Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a very rare condition caused by a fever-associated status epilepticus causing various degrees of hemiplegia and secondary epilepsy affecting children under the age of four. The aetiology is not fully understood. We report a case of a two-year-old girl with adrenogenital syndrome presenting with HHE syndrome in the course of a bacterial septicaemia.

  9. Gait in 5-year-old children with idiopathic clubfoot

    PubMed Central

    Lööf, Elin; Andriesse, Hanneke; André, Marie; Böhm, Stephanie; Broström, Eva W

    2016-01-01

    Background and purpose Idiopathic clubfoot can be bilateral or unilateral; however, most studies of gait have assessed clubfoot cases as one uniform group. The contralateral foot in children with unilateral clubfoot has shown deviations in pedobarographic measurements, but it is seldom included in studies of gait. We evaluated gait in children with idiopathic clubfoot, concentrating on foot involvement. Patients and methods Three-dimensional gait analyses of 59 children, mean age 5.4 years, with bilateral (n = 30) or unilateral (n = 29) idiopathic clubfoot were stratified into groups of bilateral, unilateral, or contralateral feet. Age-matched controls (n = 28) were evaluated for comparison. Gait assessment included: (1) discrete kinematic and kinetic parameters, and (2) gait deviation index for kinematics (GDI) and kinetics (GDI-k). Results No differences in gait were found between bilateral and unilateral idiopathic clubfoot, but both groups deviated when compared to controls. Compared to control feet, contralateral feet showed no deviations in discrete gait parameters, but discrepancies were evident in relation to unilateral clubfoot, causing gait asymmetries in children with unilateral involvement. However, all groups deviated significantly from control feet according to GDI and GDI-k. Interpretation Bilateral and unilateral idiopathic clubfoot cases show the same persistent deviations in gait, mainly regarding reduced plantarflexion. Nevertheless, knowledge of foot involvement is important as children with unilateral clubfoot show gait asymmetries, which might give an impression of poorer deviations. The results of GDI/GDI-k indicate global gait adaptations of the contralateral foot, so the foot should preferably not be used as a reference for gait. PMID:27331243

  10. Video material and epilepsy.

    PubMed

    Harding, G F; Jeavons, P M; Edson, A S

    1994-01-01

    Nine patients who had epileptic attacks while playing computer games were studied in the laboratory. Patients had an EEG recorded as well as their response to intermittent photic stimulation (IPS) at flash rates of 1-60 fps. In addition, pattern sensitivity was assessed in all patients by a gratings pattern. Only 2 patients had no previous history of convulsions, and only 2 had a normal basic EEG. All but 1 were sensitive to IPS, and all but 1 were pattern sensitive. Most patients were male, but although this appears to conflict with previously published literature results regarding the sex ratio in photosensitivity, it was due to the male predominance of video game usage. We compared our results with those reported in the literature. Diagnosing video game epilepsy requires performing an EEG with IPS and pattern stimulation. We propose a standard method of testing.

  11. Heart in An Eggshell Calcification: Idiopathic Calcific Constrictive Pericarditis

    PubMed Central

    Song, Bong Gun; Kang, Gu Hyun; Park, Yong Hwan; Chun, Woo Jung; Oh, Ju Hyeon

    2011-01-01

    Constrictive pericarditis is caused by fibrosis and calcification of the pericardium, which inhibits diastolic filling of the heart. Chest roentgenogram can show the calcification as a mass or sheet over the heart and computed tomography scan allows anatomic delineation of the pericardium and determines the extent of calcification. We reported a case of eggshell calcification of idiopathic chronic constrictive pericarditis diagnosed by echocardiography and multi-detector computed tomography.

  12. [Current therapy of polyarticular forms of juvenile idiopathic arthritis].

    PubMed

    Hospach, A; Rühlmann, J M; Weller-Heinemann, F

    2016-04-01

    Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in infancy and childhood. Approximately 20 % of patients with JIA suffer from the polyarticular form of the disease, which causes a substantial disease burden and long-term sequelae. Therapeutic approaches have used steroids and conventional disease modifying antirheumatic drugs (DMARD) but over the last decade new drugs have become available for the treatment of JIA, in particular biologic DMARD. This article summarizes the current therapy options for polyarticular JIA.

  13. Hyperconnectivity in juvenile myoclonic epilepsy: A network analysis

    PubMed Central

    Caeyenberghs, K.; Powell, H.W.R.; Thomas, R.H.; Brindley, L.; Church, C.; Evans, J.; Muthukumaraswamy, S.D.; Jones, D.K.; Hamandi, K.

    2014-01-01

    Objective Juvenile myoclonic epilepsy (JME) is a common idiopathic (genetic) generalized epilepsy (IGE) syndrome characterized by impairments in executive and cognitive control, affecting independent living and psychosocial functioning. There is a growing consensus that JME is associated with abnormal function of diffuse brain networks, typically affecting frontal and fronto-thalamic areas. Methods Using diffusion MRI and a graph theoretical analysis, we examined bivariate (network-based statistic) and multivariate (global and local) properties of structural brain networks in patients with JME (N = 34) and matched controls. Neuropsychological assessment was performed in a subgroup of 14 patients. Results Neuropsychometry revealed impaired visual memory and naming in JME patients despite a normal full scale IQ (mean = 98.6). Both JME patients and controls exhibited a small world topology in their white matter networks, with no significant differences in the global multivariate network properties between the groups. The network-based statistic approach identified one subnetwork of hyperconnectivity in the JME group, involving primary motor, parietal and subcortical regions. Finally, there was a significant positive correlation in structural connectivity with cognitive task performance. Conclusions Our findings suggest that structural changes in JME patients are distributed at a network level, beyond the frontal lobes. The identified subnetwork includes key structures in spike wave generation, along with primary motor areas, which may contribute to myoclonic jerks. We conclude that analyzing the affected subnetworks may provide new insights into understanding seizure generation, as well as the cognitive deficits observed in JME patients. PMID:25610771

  14. The Managing Epilepsy Well Network:: Advancing Epilepsy Self-Management.

    PubMed

    Sajatovic, Martha; Jobst, Barbara C; Shegog, Ross; Bamps, Yvan A; Begley, Charles E; Fraser, Robert T; Johnson, Erica K; Pandey, Dilip K; Quarells, Rakale C; Scal, Peter; Spruill, Tanya M; Thompson, Nancy J; Kobau, Rosemarie

    2017-03-01

    Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs. The Centers for Disease Control and Prevention translated recommendations on self-management research and dissemination into an applied research program through the Prevention Research Centers Managing Epilepsy Well (MEW) Network. MEW Network objectives are to advance epilepsy self-management research by developing effective interventions that can be broadly disseminated for use in people's homes, healthcare providers' offices, or in community settings. The aim of this report is to provide an update on the MEW Network research pipeline, which spans efficacy, effectiveness, and dissemination. Many of the interventions use e-health strategies to eliminate barriers to care (e.g., lack of transportation, functional limitations, and stigma). Strengths of this mature research network are the culture of collaboration, community-based partnerships, e-health methods, and its portfolio of prevention activities, which range from efficacy studies engaging hard-to-reach groups, to initiatives focused on provider training and knowledge translation. The MEW Network works with organizations across the country to expand its capacity, help leverage funding and other resources, and enhance the development, dissemination, and sustainability of MEW Network programs and tools. Guided by national initiatives targeting chronic disease or epilepsy burden since 2007, the MEW Network has been responsible for more than 43 scientific journal articles, two

  15. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

    PubMed Central

    Kasperavičiūtė, Dalia; Catarino, Claudia B.; Matarin, Mar; Leu, Costin; Novy, Jan; Tostevin, Anna; Leal, Bárbara; Hessel, Ellen V. S.; Hallmann, Kerstin; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Ryten, Mina; Trabzuni, Daniah; Ramasamy, Adaikalavan; Alhusaini, Saud; Doherty, Colin P.; Dorn, Thomas; Hansen, Jörg; Krämer, Günter; Steinhoff, Bernhard J.; Zumsteg, Dominik; Duncan, Susan; Kälviäinen, Reetta K.; Eriksson, Kai J.; Kantanen, Anne-Mari; Pandolfo, Massimo; Gruber-Sedlmayr, Ursula; Schlachter, Kurt; Reinthaler, Eva M.; Stogmann, Elisabeth; Zimprich, Fritz; Théâtre, Emilie; Smith, Colin; O’Brien, Terence J.; Meng Tan, K.; Petrovski, Slave; Robbiano, Angela; Paravidino, Roberta; Zara, Federico; Striano, Pasquale; Sperling, Michael R.; Buono, Russell J.; Hakonarson, Hakon; Chaves, João; Costa, Paulo P.; Silva, Berta M.; da Silva, António M.; de Graan, Pierre N. E.; Koeleman, Bobby P. C.; Becker, Albert; Schoch, Susanne; von Lehe, Marec; Reif, Philipp S.; Rosenow, Felix; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Rössler, Karl; Buchfelder, Michael; Hamer, Hajo M.; Kobow, Katja; Coras, Roland; Blumcke, Ingmar; Scheffer, Ingrid E.; Berkovic, Samuel F.; Weale, Michael E.; Delanty, Norman; Depondt, Chantal; Cavalleri, Gianpiero L.; Kunz, Wolfram S.

    2013-01-01

    Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10−9, odds ratio (A) = 1.42, 95% confidence interval: 1.26–1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures

  16. [Socio-cultural aspects of epilepsy in a rural community in northern Benin in 2011].

    PubMed

    Adoukonou, T; Tognon-Tchegnonsi, F; Gnonlonfoun, D; Djidonou, A; Sego-Sounon, D; Gandaho, P; Houinato, D

    2015-03-01

    Despite the development of knowledge in diagnosis and therapeutic of epilepsy it remains to be cause of rejection and stigma. We aimed to study the knowledge, attitude and practice toward epilepsy and the stigma in a rural community. The cross-sectional study was carried out from 1st to 31st March 2011 in a rural community (Tourou) at Parakou in the northern Benin. It was a door-to-door survey and included 1 031 adults older than 15 years. The diagnosis of epilepsy was based on International League Against Epilepsy. The specific questionnaire was used and comprised 16 items which explored knowledge, attitude and practice toward epilepsy. Another questionnaire was developed to study stigma among epileptics. The associated factors to the misconception toward epilepsy have been studied. All adults have heard about epilepsy and knew the generalized tonic-clonic form of epilepsy and knew someone with epilepsy. Hereditary (98%) and witchcraft (97.9%) and social problems (65.9%) were mentioned as the most cause of epilepsy. Epilepsy was cited as contagious disease by 90.6% of respondents and the associated factors were the sex (p=0.005) and occupational status (0.024). The saliva (98.1%) and witness of the place of seizure (97.8%) were the frequently mentioned modes of transmission. 65% of all mentioned that epileptics can not get marriage and the main associated factors to this belief were the advanced age (p=0.008) and occupational status (0.004). 64.4% believed that children with epilepsy shouldn't be attend to school, age (0.004), ethnicity (0.047) and occupational status were the associated factors with this misconception. Despite 99.4% considered epilepsy as treatable disease only 12.7% would have referred epileptics to the hospital. All the seven epileptics considered themselves as victims of stigma and rejected by their family and the community. The misconceptions associated to the epilepsy can explain the stigma and the therapeutic gap in this rural community.

  17. Why epilepsy challenges social life.

    PubMed

    Steiger, Bettina K; Jokeit, Hennric

    2017-01-01

    Social bonds are at the center of our daily living and are an essential determinant of our quality of life. In people with epilepsy, numerous factors can impede cognitive and affective functions necessary for smooth social interactions. Psychological and psychiatric complications are common in epilepsy and may hinder the processing of social information. In addition, neuropsychological deficits such as slowed processing speed, memory loss or attentional difficulties may interfere with enjoyable reciprocity of social interactions. We consider societal, psychological, and neuropsychological aspects of social life with particular emphasis on socio-cognitive functions in temporal lobe epilepsy. Deficits in emotion recognition and theory of mind, two main aspects of social cognition, are frequently observed in individuals with mesial temporal lobe epilepsy. Results from behavioural studies targeting these functions will be presented with a focus on their relevance for patients' daily life. Furthermore, we will broach the issue of pitfalls in current diagnostic tools and potential directions for future research. By giving a broad overview of individual and interpersonal determinants of social functioning in epilepsy, we hope to provide a basis for future research to establish social cognition as a key component in the comprehensive assessment and care of those with epilepsy.

  18. Lipoprotein macroaggregates in bronchoalveolar lavage fluid from patients with diffuse interstitial lung disease: comparison with idiopathic alveolar lipoproteinosis.

    PubMed Central

    Haslam, P L; Hughes, D A; Dewar, A; Pantin, C F

    1988-01-01

    Lipoprotein macroaggregates were present in cytocentrifuge preparations of bronchoalveolar lavage fluid from four patients with diffuse lung diseases other than idiopathic alveolar lipoproteinosis. In three patients the primary diagnosis was cryptogenic fibrosing alveolitis and in one sarcoidosis. We confirmed the presence of large multilamellar aggregates of lipoprotein by ultrastructural examination in patients with both interstitial lung disease and idiopathic alveolar lipoproteinosis. The small lamellar bodies and amorphous debris found in idiopathic alveolar lipoproteinosis were rare in the patients with interstitial lung disease. The lavage fluid from patient with interstitial lung disease did not show the substantial alterations in phospholipid composition that were seen in lavage fluid in idiopathic alveolar lipoproteinosis. These ultrastructural and biochemical features may help to distinguish idiopathic from other causes of alveolar lipoproteinosis, particularly at an early stage, when differential diagnosis may be difficult. Images PMID:3353885

  19. Phenobarbitone-induced haematological abnormalities in idiopathic epileptic dogs: prevalence, risk factors, clinical presentation and outcome.

    PubMed

    Bersan, E; Volk, H A; Ros, C; De Risio, L

    2014-09-13

    The aim of this retrospective study was to assess prevalence, risk factors, clinical presentation and outcome of phenobarbitone induced haematological abnormalities (PBIHA) in dogs. The medical records of two veterinary referral institutions were searched for dogs diagnosed with idiopathic epilepsy and treated with PB as monotherapy or polytherapy between March 2003 and September 2010. Sixteen dogs had PBIHA; the median age at diagnosis was 69.5 months. Phenobarbitone was administered at a median dose of 3 mg/kg twice a day for a median period of 100.5 days and the median serum phenobarbitone level was 19 μg/ml. Two dogs had neutropenia, three had anaemia and thrombocytopenia, two had anaemia and neutropenia; the remaining nine had pancytopenia. All dogs were referred for non-specific clinical signs. Phenobarbitone was discontinued after diagnosis, and the median time to resolution of PBIHA was 17 days. The prevalence and risk factors for PBIHA were evaluated from a questionnaire survey of referring practices to obtain more detailed follow-up on cases diagnosed with idiopathic epilepsy. The prevalence rate of PBIHA was 4.2%, and the condition occurred in dogs treated with standard therapeutic doses often within the first three months after starting treatment. Serial haematological evaluations should be therefore considered from the beginning of phenobarbitone therapy to allow early diagnosis and treatment of PBIHA.

  20. Valproate in the treatment of epilepsy in girls and women of childbearing potential.

    PubMed

    Tomson, Torbjörn; Marson, Anthony; Boon, Paul; Canevini, Maria Paola; Covanis, Athanasios; Gaily, Eija; Kälviäinen, Reetta; Trinka, Eugen

    2015-07-01

    This document provides guidance on the use of valproate in girls and women of childbearing age from a joint Task Force of the Commission on European Affairs of the International League Against Epilepsy (CEA-ILAE) and the European Academy of Neurology (EAN), following strengthened warnings from the Coordination Group for Mutual Recognition and Decentralised Procedures-Human (CMDh) of the European Medicines Agency (EMA), which highlight the risk of malformations and developmental problems in infants who are exposed to valproate in the womb. To produce these recommendations, the Task Force has considered teratogenic risks associated with use of valproate and treatment alternatives, the importance of seizure control and of patient and fetal risks with seizures, and the effectiveness of valproate and treatment alternatives in the treatment of different epilepsies. The Task Force's recommendations include the following: (1) Where possible, valproate should be avoided in women of childbearing potential. (2) The choice of treatment for girls and women of childbearing potential should be based on a shared decision between clinician and patient, and where appropriate, the patient's representatives. Discussions should include a careful risk-benefit assessment of reasonable treatment options for the patient's seizure or epilepsy type. (3) For seizure (or epilepsy) types where valproate is the most effective treatment, the risks and benefits of valproate and other treatment alternatives should be discussed. (4) Valproate should not be prescribed as a first-line treatment for focal epilepsy. (5) Valproate may be offered as a first-line treatment for epilepsy syndromes where it is the most effective treatment, including idiopathic (genetic) generalized syndromes associated with tonic-clonic seizures. (6) Valproate may be offered as a first-line treatment in situations where pregnancy is highly unlikely (e.g., significant intellectual or physical disability). (7) Women and girls

  1. Structural Abnormalities in Childhood Absence Epilepsy: Voxel-Based Analysis Using Diffusion Tensor Imaging

    PubMed Central

    Qiu, Wenchao; Gao, Yuan; Yu, Chuanyong; Miao, Ailiang; Tang, Lu; Huang, Shuyang; Hu, Zheng; Xiang, Jing; Wang, Xiaoshan

    2016-01-01

    Purpose: Childhood absence epilepsy (CAE) is a common syndrome of idiopathic generalized epilepsy. However, little is known about the brain structural changes in this type of epilepsy, especially in the default mode network (DMN) regions. This study aims at using the diffusion tensor imaging (DTI) technique to quantify structural abnormalities of DMN nodes in CAE patients. Method: DTI data were acquired in 14 CAE patients (aged 8.64 ± 2.59 years, seven females and seven males) and 16 age- and sex-matched healthy controls. The data were analyzed using voxel-based analysis (VBA) and statistically compared between patients and controls. Pearson correlation was explored between altered DTI metrics and clinical parameters. The difference of brain volumes between patients and controls were also tested using unpaired t-test. Results: Patients showed significant increase of mean diffusivity (MD) and radial diffusivity (RD) in left medial prefrontal cortex (MPFC), and decrease of fractional anisotropy (FA) in left precuneus and axial diffusivity (AD) in both left MPFC and precuneus. In correlation analysis, MD value from left MPFC was positively associated with duration of epilepsy. Neither the disease duration nor the seizure frequency showed significant correlation with FA values. Between-group comparison of brain volumes got no significant difference. Conclusion: The findings indicate that structural impairments exist in DMN regions in children suffering from absence epilepsy and MD values positively correlate with epilepsy duration. This may contribute to understanding the pathological mechanisms of chronic neurological deficits and promote the development of new therapies for this disorder. PMID:27733824

  2. The social competence and behavioral problem substrate of new- and recent-onset childhood epilepsy.

    PubMed

    Almane, Dace; Jones, Jana E; Jackson, Daren C; Seidenberg, Michael; Hermann, Bruce P

    2014-02-01

    This study examined patterns of syndrome-specific problems in behavior and competence in children with new- or recent-onset epilepsy compared with healthy controls. Research participants consisted of 205 children aged 8-18, including youth with recent-onset epilepsy (n=125, 64 localization-related epilepsy [LRE] and 61 idiopathic generalized epilepsy [IGE]) and healthy first-degree cousin controls (n=80). Parents completed the Child Behavior Checklist for children aged 6-18 (CBCL/6-18) from the Achenbach System of Empirically Based Assessment (ASEBA). Dependent variables included Total Competence, Total Problems, Total Internalizing, Total Externalizing, and Other Problems scales. Comparisons of children with LRE and IGE with healthy controls were examined followed by comparisons of healthy controls with those having specific epilepsy syndromes of LRE (BECTS, Frontal/Temporal Lobe, and Focal NOS) and IGE (Absence, Juvenile Myoclonic, and IGE NOS). Children with LRE and/or IGE differed significantly (p<0.05) from healthy controls, but did not differ from each other, across measures of behavior (Total Problems, Total Internalizing, Total Externalizing, and Other Problems including Thought and Attention Problems) or competence (Total Competence including School and Social). Similarly, children with specific syndromes of LRE and IGE differed significantly (p<0.05) from controls across measures of behavior (Total Problems, Total Internalizing, and Other Problems including Attention Problems) and competence (Total Competence including School). Only on the Thought Problems scale were there syndrome differences. In conclusion, children with recent-onset epilepsy present with significant behavioral problems and lower competence compared with controls, with little syndrome specificity whether defined broadly (LRE and IGE) or narrowly (specific syndromes of LRE and IGE).

  3. [Idiopathic interstitial pneumonias in 2016].

    PubMed

    Debray, M-P; Borie, R; Danel, C; Khalil, A; Majlath, M; Crestani, B

    2017-02-01

    Idiopathic interstitial pneumonias comprise 8 clinicopathological entities, most of them with a chronic course and various prognosis. Idiopathic pulmonary fibrosis is the most frequent and most severe of these. Computed tomography has an important role for its diagnosis. It can identify the corresponding pathological pattern of usual interstitial pneumonia in about 50 percent of cases. It can suggest differential diagnosis in other cases, most frequently fibrosing nonspecific interstitial pneumonia and chronic hypersensitivity pneumonitis. Imaging features should be integrated to clinical and available pathologic data during multidisciplinary team meetings involving physicians with a good knowledge of interstitial diseases. Some cases may be unclassifiable, but these could later be reclassified as new data may occur or imaging features may change. Surgical lung biopsy is being less frequently performed and an emerging less invasive technique, lung cryobiopsy, is under evaluation. Pleuroparenchymal fibroelastosis is a distinct entity only recently described, with uncertain prevalence and prognosis that seems being quite often associated to another pattern of interstitial pneumonia.

  4. Treatment of Idiopathic Membranous Nephropathy

    PubMed Central

    Austin, Howard A.

    2012-01-01

    Exciting progress recently has been made in our understanding of idiopathic membranous nephropathy, as well as treatment of this disease. Here, we review important advances regarding the pathogenesis of membranous nephropathy. We will also review the current approach to treatment and its limitations and will highlight new therapies that are currently being explored for this disease including Rituximab, mycophenolate mofetil, and adrenocorticotropic hormone, with an emphasis on results of the most recent clinical trials. PMID:22859855

  5. Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

    PubMed

    Bai, Dongsheng; Alonso, Maria E; Medina, Marco T; Bailey, Julia N; Morita, Ryoji; Cordova, Sergio; Rasmussen, Astrid; Ramos-Peek, Jaime; Ochoa, Adriana; Jara, Aurelio; Donnadieu, Francisco R; Cadena, Gilbert; Yamakawa, Kazuhiro; Delgado-Escueta, Antonio V

    2002-12-01

    Juvenile myoclonic epilepsy is a common subtype of idiopathic epilepsy accounting for 4-11% of all epilepsies. We reported previously significant evidence of linkage between chromosome 6p12-11 microsatellites and the clinical epilepsy and EEG traits of JME families from Belize and Los Angeles. To narrow the JME region, we ascertained and genotyped 31 new JME families from Mexico using a later generation of Généthon microsatellites. Two point linkage analyses obtained significant Z(max) values of 3.70 for D6S1573 and 2.65 for D6S1714 at theta(m = f) = 0.10, and 3.49 for D6S465, 2.11 for D6S1960 at theta(m = f) = 0.05 assuming autosomal dominant inheritance with 70% age-dependent penetrance. Multipoint LOD score curve peaked at 4.21 for D6S1573. Haplotype and recombination analysis reduced the JME region to 3.5 cM flanked by D6S272 and D6S1573. These results provide confirmatory evidence that a major susceptibility gene for JME exists in chromosome 6p12 in Spanish-Amerinds of Mexico.

  6. Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

    PubMed Central

    2013-01-01

    Background Mitochondrial diseases caused by mutations in mitochondrial DNA (mtDNA) affect tissues with high energy demand. Epilepsy is one of the manifestations of mitochondrial dysfunction when the brain is affected. We have studied here 79 Finnish patients with epilepsy and who have maternal first- or second-degree relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus. Methods The entire mtDNA was studied by using conformation sensitive gel electrophoresis and PCR fragments that differed in mobility were directly sequenced. Results We found a common nonsynonymous variant m.15218A > G (p.T158A, MTCYB) that occurs in haplogroup U5a1 to be more frequent in patients with epilepsy. The m.15218A > G variant was present in five patients with epilepsy and in four out of 403 population controls (p = 0.0077). This variant was present in two branches in the phylogenetic network constructed on the basis of mtDNA variation among the patients. Three algorithms predicted that m.15218A > G is damaging in effect. Conclusions We suggest that the m.15218A > G variant is mildly deleterious and that mtDNA involvement should be considered in patients with epilepsy and who have a maternal history of epilepsy, sensorineural hearing impairment or diabetes mellitus. PMID:23870133

  7. A systematic approach for the diagnosis and treatment of idiopathic peptic ulcers.

    PubMed

    Chung, Chen-Shuan; Chiang, Tsung-Hsien; Lee, Yi-Chia

    2015-09-01

    An idiopathic peptic ulcer is defined as an ulcer with unknown cause or an ulcer that appears to arise spontaneously. The first step in treatment is to exclude common possible causes, including Helicobacter pylori infection, infection with other pathogens, ulcerogenic drugs, and uncommon diseases with upper gastrointestinal manifestations. When all known causes are excluded, a diagnosis of idiopathic peptic ulcer can be made. A patient whose peptic ulcer is idiopathic may have a higher risk for complicated ulcer disease, a poorer response to gastric acid suppressants, and a higher recurrence rate after treatment. Risk factors associated with this disease may include genetic predisposition, older age, chronic mesenteric ischemia, smoking, concomitant diseases, a higher American Society of Anesthesiologists score, and higher stress. Therefore, the diagnosis and management of emerging disease should systematically explore all known causes and treat underlying disease, while including regular endoscopic surveillance to confirm ulcer healing and the use of proton-pump inhibitors on a case-by-case basis.

  8. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International classification of sleep disorders, 2nd edition.

    PubMed

    Billiard, Michel

    2007-10-01

    Defining the precise nosological limits of narcolepsy and idiopathic hypersomnia is an ongoing process dating back to the first description of the two conditions. The most recent step forward has been done within the preparation of the second edition of the "International classification of sleep disorders" published in June 2005. Appointed by Dr Emmanuel Mignot, the Task Force on "Hypersomnias of central origin, not due to a circadian rhythm sleep disorder, sleep related breathing disorder, or other causes of disturbed nocturnal sleep" thoroughly revisited the nosology of narcolepsy and of idiopathic hypersomnia. Narcolepsy is now distinguished into three different entities, narcolepsy with cataplexy, narcolepsy without cataplexy and narcolepsy due to medical condition, and idiopathic hypersomnia into two entities, idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. Nevertheless there are still a number of pending issues. What are the limits of narcolepsy without cataplexy? Is there a continuum in the pathophysiology of narcolepsy with and without cataplexy? Should sporadic and familial forms of narcolepsy with cataplexy appear as subgroups in the classification? Are idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time, two forms of the same condition or two different conditions? Is there a pathophysiological relationship between narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time?

  9. Epilepsy in children with trisomy 18.

    PubMed

    Kumada, Tomohiro; Maihara, Toshiro; Higuchi, Yoshihisa; Nishida, Yoshinobu; Taniguchi, Yoshihiro; Fujii, Tatsuya

    2013-04-01

    Although the reported incidence of epilepsy associated with trisomy 18 is 25-50%, there have been no detailed descriptions of the characteristics of trisomy 18-related epilepsy. We investigated the characteristics of epilepsy in children with trisomy 18 who remained alive for over 1 year by sending questionnaires to pediatric neurologists belonging to the Kyoto Multi-institutional Study Group of Pediatric Neurology. Eleven patients with trisomy 18 were enrolled (age at the study, from 15 to 134 months; median, 43 months), of whom seven (64%) had epilepsy. The age at seizure onset ranged from 1 to 42 months (median: 11 months). Among the seven patients with epilepsy, two had focal epilepsy, four had generalized epilepsy including infantile spasms in three, and the remaining one had an unclassified type. Seizure seminology included complex partial seizures in both the patients with focal epilepsy. At the time of the investigation, three children with generalized epilepsy still had daily seizures, while the remaining four were seizure-free. In conclusion, the characteristics of epilepsy in patients with trisomy 18 were as follows: over half of the children developed epilepsy during infancy or early childhood; infantile spasms might be one of the common epileptic syndromes; the epilepsy was intractable in half of the children, especially in those with generalized epilepsy.

  10. Are Absence Epilepsy and Nocturnal Frontal Lobe Epilepsy System Epilepsies of the Sleep/Wake System?

    PubMed Central

    Halász, Péter

    2015-01-01

    System epilepsy is an emerging concept interpreting major nonlesional epilepsies as epileptic dysfunctions of physiological systems. I extend here the concept of reflex epilepsy to epilepsies linked to input dependent physiological systems. Experimental and clinical reseach data were collected to create a coherent explanation of underlying pathomechanism in AE and NFLE. We propose that AE should be interpreted as epilepsy linked to the corticothalamic burst-firing mode of NREM sleep, released by evoked vigilance level oscillations characterized by reactive slow wave response. In the genetic variation of NFLE the ascending cholinergic arousal system plays an essential role being in strong relationship with a gain mutation of the nicotinic acethylcholin receptors, rendering the arousal system hyperexcitable. I try to provide a more unitary interpretation for the variable seizure manifestation integrating them as different degree of pathological arosuals and alarm reactions. As a supporting hypothesis the similarity between arousal parasomnias and FNLE is shown, underpinned by overlaping pathomechanism and shared familiarity, but without epileptic features. Lastly we propose that both AE and NFLE are system epilepsies of the sleep-wake system representing epileptic disorders of the antagonistic sleep/arousal network. This interpretation may throw new light on the pathomechanism of AE and NFLE. PMID:26175547

  11. Premature mortality of epilepsy in low- and middle-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

    PubMed

    Levira, Francis; Thurman, David J; Sander, Josemir W; Hauser, W Allen; Hesdorffer, Dale C; Masanja, Honorati; Odermatt, Peter; Logroscino, Giancarlo; Newton, Charles R

    2017-01-01

    To determine the magnitude of risk factors and causes of premature mortality associated with epilepsy in low- and middle-income countries (LMICs). We conducted a systematic search of the literature reporting mortality and epilepsy in the World Bank-defined LMICs. We assessed the quality of the studies based on representativeness; ascertainment of cases, diagnosis, and mortality; and extracted data on standardized mortality ratios (SMRs) and mortality rates in people with epilepsy. We examined risk factors and causes of death. The annual mortality rate was estimated at 19.8 (range 9.7-45.1) deaths per 1,000 people with epilepsy with a weighted median SMR of 2.6 (range 1.3-7.2) among higher-quality population-based studies. Clinical cohort studies yielded 7.1 (range 1.6-25.1) deaths per 1,000 people. The weighted median SMRs were 5.0 in male and 4.5 in female patients; relatively higher SMRs within studies were measured in children and adolescents, those with symptomatic epilepsies, and those reporting less adherence to treatment. The main causes of death in people with epilepsy living in LMICs include those directly attributable to epilepsy, which yield a mean proportional mortality ratio (PMR) of 27.3% (range 5-75.5%) derived from population-based studies. These direct causes comprise status epilepticus, with reported PMRs ranging from 5 to 56.6%, and sudden unexpected death in epilepsy (SUDEP), with reported PMRs ranging from 1 to 18.9%. Important causes of mortality indirectly related to epilepsy include drowning, head injury, and burns. Epilepsy in LMICs has a significantly greater premature mortality, as in high-income countries, but in LMICs the excess mortality is more likely to be associated with causes attributable to lack of access to medical facilities such as status epilepticus, and preventable causes such as drowning, head injuries, and burns. This excess premature mortality could be substantially reduced with education about the risk of death and

  12. Personalized medicine approaches in epilepsy.

    PubMed

    Walker, L E; Mirza, N; Yip, V L M; Marson, A G; Pirmohamed, M

    2015-02-01

    Epilepsy affects 50 million persons worldwide, a third of whom continue to experience debilitating seizures despite optimum anti-epileptic drug (AED) treatment. Twelve-month remission from seizures is less likely in female patients, individuals aged 11-36 years and those with neurological insults and shorter time between first seizure and starting treatment. It has been found that the presence of multiple seizures prior to diagnosis is a risk factor for pharmacoresistance and is correlated with epilepsy type as well as intrinsic severity. The key role of neuroinflammation in the pathophysiology of resistant epilepsy is becoming clear. Our work in this area suggests that high-mobility group box 1 isoforms may be candidate biomarkers for treatment stratification and novel drug targets in epilepsy. Furthermore, transporter polymorphisms contributing to the intrinsic severity of epilepsy are providing robust neurobiological evidence on an emerging theory of drug resistance, which may also provide new insights into disease stratification. Some of the rare genetic epilepsies enable treatment stratification through testing for the causal mutation, for example SCN1A mutations in patients with Dravet's syndrome. Up to 50% of patients develop adverse reactions to AEDs which in turn affects tolerability and compliance. Immune-mediated hypersensitivity reactions to AED therapy, such as toxic epidermal necrolysis, are the most serious adverse reactions and have been associated with polymorphisms in the human leucocyte antigen (HLA) complex. Pharmacogenetic screening for HLA-B*15:02 in Asian populations can prevent carbamazepine-induced Stevens-Johnson syndrome. We have identified HLA-A*31:01 as a potential risk marker for all phenotypes of carbamazepine-induced hypersensitivity with applicability in European and other populations. In this review, we explore the currently available key stratification approaches to address the therapeutic challenges in epilepsy.

  13. Vagus Nerve Stimulation for Treating Epilepsy

    MedlinePlus

    ... Evidence-based Guideline for PATIENTS and their FAMILIES VAGUS NERVE STIMULATION FOR TREATING EPILEPSY This information sheet is provided to help you understand how vagus nerve stimulation (VNS) may help treat epilepsy. The American ...

  14. [Contemporary opinions on classification, pathogenesis and treatment of drug-resistant epilepsy].

    PubMed

    Jóźwiak, Sergiusz

    2007-01-01

    Epilepsy is one of the most frequent neurological disorders, both in children and adult persons. About 0.5-1% of general population suffer from epilepsy, which means that about 50 million people in the world are affected. First years of life and very late adulthood are periods in human's life particularly predisposing to epilepsy. Repetitive epileptic seizures may cause many life-threatening situations and significantly lower patient's quality of life. To the most serious complications belong status epilepticus and sudden unexpected deaths due to epilepsy (SUDEP). Absences from work or school caused by seizures, difficulties in social life, frequent injuries and necessity of polytherapy are also important for patients. All these factors result in low self-esteem and poor quality of life. The main aim of the treatment was control of epileptic seizures. However, despite of new antiepileptic drugs developed almost every year, in one third of all patients with epilepsy seizures remain out of control. Those patients are regarded to have "drug-resistant epilepsy". Despite of significant scale of the problem, there is no one definition of the phenomenon. In the presented review the authors outline current definitions, recent opinions on pathogenesis and risk factors, and provide practical rules of pharmacotherapy of epilepsy, which should help to restrict drug-resistancy.

  15. Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.

    PubMed

    Maniar, S; Azzi, K; Iraqi, H; El Hassan Garbi, M; Chraibi, A; Gaouzi, A

    2011-02-01

    The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its isolated form, it is called idiopathic. The latter may be associated with several anomalies including dermatological and urogenital abnormalities with increased risk of developing embryonal tumors. We report the case of a 22-month-old infant, who was referred by his pediatrician at the age of 15 months for a corporeal hemihypertrophy associated with hemihypertrichosis. In his medical history, a second degree parental consanguinity and a hypospadias in the father and a paternal uncle were found. Clinical examination found a weight and a size greater than chronological age (3 standard deviations), a hemihypertrophy of entire left side with a difference of length and diameter between the left and right limbs of 2 cm. The hemihypertrichosis was widespread in the left body and the genital examination found a hypospadias. Biological and radiological assessments did not show any abnormality, with the exception of an initially high plasma testosterone level, which gradually normalized. Thus, the diagnosis of idiopathic hemihypertrophy with congenital hemihypertrichosis was retained. This is the fourth case reported in the literature. Its management is similar to all hemihypertrophies, which consists of an initial assessment to detect an embryonic tumor, followed by a monitoring protocol including an abdominal and renal ultrasound every 6 months until the age of 8, determination of alpha-feto-protein every 6 to 12 weeks until the age of 4 years to track the development of the two most frequent tumors: Wilms tumor and hepatoblastoma. The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the

  16. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    PubMed Central

    Leu, Costin; Balestrini, Simona; Maher, Bridget; Hernández-Hernández, Laura; Gormley, Padhraig; Hämäläinen, Eija; Heggeli, Kristin; Schoeler, Natasha; Novy, Jan; Willis, Joseph; Plagnol, Vincent; Ellis, Rachael; Reavey, Eleanor; O'Regan, Mary; Pickrell, William O.; Thomas, Rhys H.; Chung, Seo-Kyung; Delanty, Norman; McMahon, Jacinta M.; Malone, Stephen; Sadleir, Lynette G.; Berkovic, Samuel F.; Nashef, Lina; Zuberi, Sameer M.; Rees, Mark I.; Cavalleri, Gianpiero L.; Sander, Josemir W.; Hughes, Elaine; Helen Cross, J.; Scheffer, Ingrid E.; Palotie, Aarno; Sisodiya, Sanjay M.

    2015-01-01

    Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls. Association analysis revealed a significantly increased genome-wide polygenic burden per individual in the SUDEP cohort when compared to epilepsy (P = 5.7 × 10− 3) and non-epilepsy disease controls (P = 1.2 × 10− 3). The polygenic burden was driven both by the number of variants per individual, and over-representation of variants likely to be deleterious in the SUDEP cohort. As determined by this study, more than a thousand genes contribute to the observed polygenic burden within the framework of this study. Subsequent gene-based association analysis revealed five possible candidate genes significantly associated with SUDEP or epilepsy, but no one single gene emerges as common to the SUDEP cases. Our findings provide further evidence for a genetic susceptibility to SUDEP, and suggest an extensive polygenic contribution to SUDEP causation. Thus, an overall increased burden of deleterious variants in a highly polygenic background might be important in rendering a given individual more susceptible to SUDEP. Our findings suggest that exome sequencing in people with epilepsy might eventually contribute to generating SUDEP risk estimates, promoting stratified medicine in epilepsy, with the eventual aim of reducing an individual patient's risk of SUDEP. PMID:26501104

  17. The treatment gap and primary health care for people with epilepsy in rural Gambia.

    PubMed Central

    Coleman, Rosalind; Loppy, Louie; Walraven, Gijs

    2002-01-01

    OBJECTIVE: To study primary-level management for people with epilepsy in rural Gambia by means of community surveys. METHODS: After population screening was carried out, visits were made by a physician who described the epidemiology of epilepsy and its management. Gaps between required management and applied management were investigated by conducting interviews and discussions with people with epilepsy and their communities. FINDINGS: The lifetime prevalence of epilepsy was 4.9/1000 and the continuous treatment rate was less than 10%. The choice of treatment was shaped by beliefs in an external spiritual cause of epilepsy and was commonly expected to be curative but not preventive. Treatment rarely led to the control of seizures, although when control was achieved, the level of community acceptance of people with epilepsy increased. Every person with epilepsy had sought traditional treatment. Of the 69 people with active epilepsy, 42 (61%) said they would like to receive preventive biomedical treatment if it were available in their local community. Key programme factors included the local provision of effective treatment and community information with, in parallel, clarification of the use of preventive treatment and genuine integration with current traditional sources of treatment and advice. CONCLUSION: Primary-level management of epilepsy could be integrated into a chronic disease programme covering hypertension, diabetes, asthma and mental health. Initial diagnosis and prescribing could take place away from the periphery but recurrent dispensing would be conducted locally. Probable epilepsy etiologies suggest that there is scope for primary prevention through the strengthening of maternal and child health services. PMID:12077613

  18. CHD2 variants are a risk factor for photosensitivity in epilepsy

    PubMed Central

    Myers, Candace T.; Leu, Costin; de Kovel, Carolien G. F.; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G.; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V.; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S.; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L.; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G.; Mullen, Saul A.; Berkovic, Samuel F.; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D.; Esguerra, Camila V.; Kasteleijn-Nolst Trenité, Dorothee G. A.

    2015-01-01

    Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and