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Sample records for atypical absence seizures

  1. Absence seizure

    MedlinePlus

    Seizure - petit mal; Seizure - absence; Petit mal seizure; Epilepsy - absence seizure ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff ... Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 101. ...

  2. Absence seizure

    MedlinePlus

    Seizure - petit mal; Seizure - absence; Petit mal seizure; Epilepsy - absence seizure ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff RB, ... 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap ...

  3. Current and emerging treatments for absence seizures in young patients

    PubMed Central

    Vrielynck, Pascal

    2013-01-01

    In this report, we review the pharmacological and non-pharmacological treatments of the different absence seizure types as recently recognized by the International League Against Epilepsy: typical absences, atypical absences, myoclonic absences, and eyelid myoclonia with absences. Overall, valproate and ethosuximide remain the principal anti-absence drugs. Typical absence seizures exhibit a specific electroclinical semiology, pathophysiology, and pharmacological response profile. A large-scale comparative study has recently confirmed the key role of ethosuximide in the treatment of childhood absence epilepsy, more than 50 years after its introduction. No new antiepileptic drug has proven major efficacy against typical absences. Of the medications under development, brivaracetam might be an efficacious anti-absence drug. Some experimental drugs also show efficacy in animal models of typical absence seizures. The treatment of other absence seizure types is not supported with a high level of evidence. Rufinamide appears to be the most promising new antiepileptic drug for atypical absences and possibly for myoclonic absences. The efficacy of vagal nerve stimulation should be further evaluated for atypical absences. Levetiracetam appears to display a particular efficacy in eyelid myoclonia with absences. Finally, it is important to remember that the majority of antiepileptic drugs, whether they be old or new, may aggravate typical and atypical absence seizures. PMID:23885176

  4. Galactosemia and phantom absence seizures.

    PubMed

    Aydin-Özemir, Zeynep; Tektürk, Pınar; Uyguner, Zehra Oya; Baykan, Betül

    2014-01-01

    Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association. PMID:25624930

  5. Acute and chronic pharmacological models of generalized absence seizures.

    PubMed

    Cortez, Miguel A; Kostopoulos, George K; Snead, O Carter

    2016-02-15

    This article reviews the contribution of pharmacologically induced acute and chronic animal models to our understanding of epilepsies featuring non-convulsive generalized seizures, the typical and atypical absence seizures. Typical absences comprise about 5% of all epilepsies regardless of age and the atypical ones are even more common. Although absence epilepsy was thought to be relatively benign, children with childhood epilepsy (CAE) turn out to have a high rate of pretreatment attention deficits that persist despite seizure freedom. The phenomenon of the absence seizure has long attracted research interest because of the clear temporal relationship of the conspicuous EEG rhythm of 3 Hz generalized spike and wave discharges (GSWD) and the parallel transient "loss of consciousness" characterizing these seizures which is time-locked with the GSWD. Indeed, clinical epileptologists, basic scientists and neurophysiologists have long recognized in GSWD a unique electrographic and behavioral marker of the genetic predisposition to most types of epilepsy. Interestingly, the subject is still controversial since it has recently been proposed that both classification terms of CAE currently in use: idiopathic and primary generalized, be abandoned - a point of debate. Both issues - underlying mechanisms and focal origin of absence seizures - may be further enlightened by observations in valid animal models. PMID:26343323

  6. Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

    PubMed

    Verrotti, Alberto; Palka, Chiara; Prezioso, Giovanni; Alfonsi, Melissa; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco

    2015-01-01

    We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, TGIF1 is expressed in the fetal and adult nervous system, and its deletion has been related to central nervous system diseases. TGIF1 deletions have previously been reported in patients with a comparable phenotype as seen in our case and in children whose neurological signs and symptoms were considerable, but not epileptiform. Mutations and deletions involving the TGIF1 gene have been described in patients with HPE in an autosomal dominant model of inheritance. However, TGIF1 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity. Therefore, a TGIF1 deletion may not be always related to HPE, and it may have a link to the development of epilepsy. PMID:26278570

  7. Childhood Absence Epilepsy: Poor Attention Is More Than Seizures

    MedlinePlus

    ... Spencer, MD Steven Karceski, MD Childhood absence epilepsy Poor attention is more than seizures Liu Lin Thio, ... of this article is prohibited. Childhood absence epilepsy: Poor attention is more than seizures Liu Lin Thio ...

  8. Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures.

    PubMed

    Awad, Patricia N; Sanon, Nathalie T; Chattopadhyaya, Bidisha; Carriço, Josianne Nunes; Ouardouz, Mohamed; Gagné, Jonathan; Duss, Sandra; Wolf, Daniele; Desgent, Sébastien; Cancedda, Laura; Carmant, Lionel; Di Cristo, Graziella

    2016-07-01

    Atypical febrile seizures are considered a risk factor for epilepsy onset and cognitive impairments later in life. Patients with temporal lobe epilepsy and a history of atypical febrile seizures often carry a cortical malformation. This association has led to the hypothesis that the presence of a cortical dysplasia exacerbates febrile seizures in infancy, in turn increasing the risk for neurological sequelae. The mechanisms linking these events are currently poorly understood. Potassium-chloride cotransporter KCC2 affects several aspects of neuronal circuit development and function, by modulating GABAergic transmission and excitatory synapse formation. Recent data suggest that KCC2 downregulation contributes to seizure generation in the epileptic adult brain, but its role in the developing brain is still controversial. In a rodent model of atypical febrile seizures, combining a cortical dysplasia and hyperthermia-induced seizures (LHS rats), we found a premature and sustained increase in KCC2 protein levels, accompanied by a negative shift of the reversal potential of GABA. In parallel, we observed a significant reduction in dendritic spine size and mEPSC amplitude in CA1 pyramidal neurons, accompanied by spatial memory deficits. To investigate whether KCC2 premature overexpression plays a role in seizure susceptibility and synaptic alterations, we reduced KCC2 expression selectively in hippocampal pyramidal neurons by in utero electroporation of shRNA. Remarkably, KCC2 shRNA-electroporated LHS rats show reduced hyperthermia-induced seizure susceptibility, while dendritic spine size deficits were rescued. Our findings demonstrate that KCC2 overexpression in a compromised developing brain increases febrile seizure susceptibility and contribute to dendritic spine alterations. PMID:26875662

  9. Mapping preictal networks preceding childhood absence seizures using magnetoencephalography.

    PubMed

    Jacobs-Brichford, Eliza; Horn, Paul S; Tenney, Jeffrey R

    2014-10-01

    The electrographic hallmark of childhood absence seizures is 3 Hz generalized spike and wave discharges; however, there is likely a focal thalamic or cortical onset that cannot be detected using scalp electroencephalography (EEG). The purpose of this study was to study the earliest preictal changes in children with absence epilepsy. In this report, magnetoencephalography recordings of 44 absence seizures recorded from 12 children with drug-naïve childhood absence seizures were used to perform time frequency analysis and source localization prior to the onset of the seizures. Evidence of preictal magnetoencephalography frequency changes were detected a mean of 694 ms before the initial spike on the EEG. A consistent pattern of focal sources was present in the frontal cortex and thalamus during this preictal period, but source localization occurred synchronously so that independent activity between the 2 structures could not be distinguished. PMID:24532809

  10. Symptom differences in children with absence seizures versus inattention.

    PubMed

    Williams, Jane; Sharp, Gregory B.; DelosReyes, Emily; Bates, Stephen; Phillips, Tonya; Lange, Bernadette; Griebel, May L.; Edwards, Mark; Simpson, Pippa

    2002-06-01

    Objective. Differentiation between the diagnoses of absence seizures and Attention Deficit Hyperactivity Disorder (ADHD), Predominantly Inattentive Type, is frequently confounded by similarities in symptom presentation. The purpose of the present study was to determine symptoms that would distinguish between the disorders.Methods. Prior to diagnosis, parents of children with absence seizures (n=17) or ADHD, Predominantly Inattentive Type (n=26), were administered the Attention Deficit Disorder Evaluation Scale-Home Version (ADDES-HV). A statistical model was developed based on age, gender, race, and items from the Inattentive Scale of the ADDES-HV.Results. Two items, "does not complete homework" and "does not remain on task," correctly classified 40 of 43 children. Children with absence seizures were rated by their parents as having a low rate of occurrence of these behaviors.Conclusion. Lack of sustained attention distinguished between the groups and was much more prevalent in children with ADHD, Predominantly Inattentive Type. PMID:12662604

  11. Absence of seizures in Rasmussen encephalitis with active inflammation.

    PubMed

    Samanta, Debopam; Gokden, Murat; Albert, Gregory W

    2016-06-01

    Severe focal motor epilepsy is considered a clinical hallmark of Rasmussen encephalitis (RE). The authors report a 6-year-old girl with progressive right sided hemiparesis, loss of language skills, left sided hemispheric atrophy, and brain pathologic features characteristic for RE. The patient did not experience seizures over a 2year period after symptom onset and for several months during follow-up. This report expands the clinical spectrum of RE and suggests that seizures are not a universal symptom of RE. Our patient's quite remarkable neurologic deficits along with active inflammation in the absence of epilepsy supports that, at least in some individuals, unilateral hemispheric progressive inflammation can occur without active seizure activity. PMID:26775150

  12. Cellular and network mechanisms of genetically-determined absence seizures.

    PubMed

    Pinault, Didier; O'Brien, Terence J

    2005-01-01

    The absence epilepsies are characterized by recurrent episodes of loss of consciousness associated with generalized spike-and-wave discharges, with an abrupt onset and offset, in the thalamocortical system. In the absence of detailed neurophysiological studies in humans, many of the concepts regarding the pathophysiological basis of absence seizures are based on studies in animal models. Each of these models has its particular strengths and limitations, and the validity of findings from these models for the human condition cannot be assumed. Consequently, studies in different models have produced some conflicting findings and conclusions. A long-standing concept, based primarily from studies in vivo in cats and in vitro brain slices, is that these paroxysmal electrical events develop suddenly from sleep-related spindle oscillations. More specifically, it is proposed that the initial mechanisms that underlie absence-related spike-and-wave discharges are located in the thalamus, involving especially the thalamic reticular nucleus. By contrast, more recent studies in well-established, genetic models of absence epilepsy in rats demonstrate that spike-and-wave discharges originate in a cortical focus and develop from a wake-related natural corticothalamic sensorimotor rhythm. In this review we integrate recent findings showing that, in both the thalamus and the neocortex, genetically-determined, absence-related spike-and-wave discharges are the manifestation of hypersynchronized, cellular, rhythmic excitations and inhibitions that result from a combination of complex, intrinsic, synaptic mechanisms. Arguments are put forward supporting the hypothesis that layer VI corticothalamic neurons act as 'drivers' in the generation of spike-and-wave discharges in the somatosensory thalamocortical system that result in corticothalamic resonances particularly initially involving the thalamic reticular nucleus. However an important unresolved question is: what are the cellular and

  13. Seizures as an Atypical Feature of Beal's Syndrome.

    PubMed

    Jaman, Nazreen B K; Al-Sayegh, Abeer

    2016-08-01

    Congenital contractural arachnodactyly, commonly known as Beal's syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal's syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal's syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors' knowledge, this is the first report of Beal's syndrome with seizure symptoms as a potential feature. PMID:27606123

  14. Frontal lobe epilepsy with atypical seizure semiology resembling shuddering attacks or wet dog shake seizures.

    PubMed

    Jahodova, Alena; Krsek, Pavel; Komarek, Vladimir; Kudr, Martin; Kyncl, Martin; Zamecnik, Josef; Tichy, Michal

    2012-03-01

    We report a girl with a drug-resistant frontal lobe epilepsy caused by focal cortical dysplasia, who exhibited uncommon seizures. The seizures consisted of shoulder or whole body shuddering after a short psychic aura and face grimacing. Consciousness was fully preserved. The seizures resembled "wet dog shake" seizures described in rat models of epilepsy or shuddering attacks in infants. EEG findings were inconclusive, however, MRI showed a clear dysplastic lesion in the right frontal mesial and polar structures. The patient underwent an extended lesionectomy guided by neuronavigation and intraoperative electrocorticography. Focal cortical dysplasia type Ib was histologically confirmed and the patient has been seizure-free for the three years following resection. [Published with video sequences]. PMID:22425715

  15. Epileptic activity during early postnatal life in the AY-9944 model of atypical absence epilepsy.

    PubMed

    Jung, Seungmoon; Jeong, Yong; Jeon, Daejong

    2015-05-01

    Atypical absence epilepsy (AAE) is an intractable disorder characterized by slow spike-and-wave discharges in electroencephalograms (EEGs) and accompanied by severe cognitive dysfunction and neurodevelopmental or neurological deficits in humans. Administration of the cholesterol biosynthesis inhibitor AY-9944 (AY) during the postnatal developmental period induces AAE in animals; however, the neural mechanism of seizure development remains largely unknown. In this study, we characterized the cellular manifestations of AY-induced AAE in the mouse. Treatment of brain slices with AY increased membrane excitability of hippocampal CA1 neurons. AY treatment also increased input resistance of CA1 neurons during early postnatal days (PND) 5-10. However, these effects were not observed during late PND (14-21) or in adulthood (7-10 weeks). Notably, AY treatment elicited paroxysmal depolarizing shift (PDS)-like epileptiform discharges during the early postnatal period, but not during late PND or in adults. The PDS-like events were not compromised by application of glutamate or GABA receptor antagonists. However, the PDS-like events were abolished by blockage of voltage-gated Na(+) channels. Hippocampal neurons isolated from an in vivo AY model of AAE showed similar PDS-like epileptiform discharges. Further, AY-treated neurons from T-type Ca(2+) channel α1G knockout (Cav3.1(-/-)) mice, which do not exhibit typical absence seizures, showed similar PDS-like epileptiform discharges. These results demonstrate that PDS-like epileptiform discharges during the early postnatal period are dependent upon Na(+) channels and are involved in the generation of AY-induced AAE, which is distinct from typical absence epilepsy. Our findings may aid our understanding of the pathophysiological mechanisms of clinical AAE in individuals, such as those with Lennox-Gastaut syndrome. PMID:25890840

  16. Seizures as an Atypical Feature of Beal’s Syndrome

    PubMed Central

    Jaman, Nazreen B. K.; Al-Sayegh, Abeer

    2016-01-01

    Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature. PMID:27606123

  17. MRI volumetry shows increased anterior thalamic volumes in patients with absence seizures.

    PubMed

    Betting, Luiz Eduardo; Mory, Susana Barreto; Lopes-Cendes, Iscia; Li, Li Min; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando

    2006-05-01

    The interaction between thalamus and cortex appears to be critical to the pathophysiology of idiopathic generalized epilepsies (IGEs). The objective of this study was to investigate thalamic volumes of a group of patients with IGEs using high-resolution MRI. Thalamic segmentation was performed by the same rater, who was unaware of the diagnosis. Thalamic volumes were divided into anterior half and posterior half. One hundred forty-seven patients were scanned (71 with juvenile myoclonic epilepsy, 49 with generalized tonic-clonic seizures only, and 27 with absence epilepsy). Subgroup analyses with corrections for multiple comparisons showed that, when compared with those of controls, anterior thalamic volumes were increased in patients with absence epilepsy and juvenile myoclonic epilepsy with absence seizures, but not in patients with generalized tonic-clonic seizures only and juvenile myoclonic epilepsy without absence seizures. Our results demonstrated that the anterior thalamus is structurally different in patients with IGEs and absence seizures as compared with patients with IGEs without absence seizures. PMID:16530016

  18. Critical Roles of the Direct GABAergic Pallido-cortical Pathway in Controlling Absence Seizures.

    PubMed

    Chen, Mingming; Guo, Daqing; Li, Min; Ma, Tao; Wu, Shengdun; Ma, Jingling; Cui, Yan; Xia, Yang; Xu, Peng; Yao, Dezhong

    2015-10-01

    The basal ganglia (BG), serving as an intermediate bridge between the cerebral cortex and thalamus, are believed to play crucial roles in controlling absence seizure activities generated by the pathological corticothalamic system. Inspired by recent experiments, here we systematically investigate the contribution of a novel identified GABAergic pallido-cortical pathway, projecting from the globus pallidus externa (GPe) in the BG to the cerebral cortex, to the control of absence seizures. By computational modelling, we find that both increasing the activation of GPe neurons and enhancing the coupling strength of the inhibitory pallido-cortical pathway can suppress the bilaterally synchronous 2-4 Hz spike and wave discharges (SWDs) during absence seizures. Appropriate tuning of several GPe-related pathways may also trigger the SWD suppression, through modulating the activation level of GPe neurons. Furthermore, we show that the previously discovered bidirectional control of absence seizures due to the competition between other two BG output pathways also exists in our established model. Importantly, such bidirectional control is shaped by the coupling strength of this direct GABAergic pallido-cortical pathway. Our work suggests that the novel identified pallido-cortical pathway has a functional role in controlling absence seizures and the presented results might provide testable hypotheses for future experimental studies. PMID:26496656

  19. Critical Roles of the Direct GABAergic Pallido-cortical Pathway in Controlling Absence Seizures

    PubMed Central

    Li, Min; Ma, Tao; Wu, Shengdun; Ma, Jingling; Cui, Yan; Xia, Yang; Xu, Peng; Yao, Dezhong

    2015-01-01

    The basal ganglia (BG), serving as an intermediate bridge between the cerebral cortex and thalamus, are believed to play crucial roles in controlling absence seizure activities generated by the pathological corticothalamic system. Inspired by recent experiments, here we systematically investigate the contribution of a novel identified GABAergic pallido-cortical pathway, projecting from the globus pallidus externa (GPe) in the BG to the cerebral cortex, to the control of absence seizures. By computational modelling, we find that both increasing the activation of GPe neurons and enhancing the coupling strength of the inhibitory pallido-cortical pathway can suppress the bilaterally synchronous 2–4 Hz spike and wave discharges (SWDs) during absence seizures. Appropriate tuning of several GPe-related pathways may also trigger the SWD suppression, through modulating the activation level of GPe neurons. Furthermore, we show that the previously discovered bidirectional control of absence seizures due to the competition between other two BG output pathways also exists in our established model. Importantly, such bidirectional control is shaped by the coupling strength of this direct GABAergic pallido-cortical pathway. Our work suggests that the novel identified pallido-cortical pathway has a functional role in controlling absence seizures and the presented results might provide testable hypotheses for future experimental studies. PMID:26496656

  20. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.

    PubMed

    Guerrero-López, Rosa; Ortega-Moreno, Laura; Giráldez, Beatriz G; Alarcón-Morcillo, Cristina; Sánchez-Martín, Gema; Nieto-Barrera, Manuel; Gutiérrez-Delicado, Eva; Gómez-Garre, Pilar; Martínez-Bermejo, Antonio; García-Peñas, Juan J; Serratosa, José M

    2014-10-01

    A benign prognosis has been claimed in benign familial infantile seizures (BFIS). However, few studies have assessed the long-term evolution of these patients. The objective of this study is to describe atypical courses and presentations in BFIS families with mutations in PRRT2 gene. We studied clinically affected individuals from five BFIS Spanish families. We found mutations in PRRT2 in all 5 families. A non-BFIS phenotype or an atypical BFIS course was found in 9/25 (36%) patients harbouring a PRRT2 mutation. Atypical features included neonatal onset, mild hemiparesis, learning difficulties or mental retardation, and recurrent seizures during adulthood. We also report a novel PRRT2 mutation (c.121_122delGT). In BFIS families an atypical phenotype was present in a high percentage of the patients. These findings expand the clinical spectrum of PRRT2 mutations including non-benign epileptic phenotypes. PMID:25060993

  1. Seizures

    MedlinePlus

    ... minutes The person does not awaken or have normal behavior after a seizure Another seizure starts soon after a seizure ends The person had a seizure in water The person is pregnant, injured, or has diabetes ...

  2. Seizures

    MedlinePlus

    ... two or more seizures may be diagnosed with epilepsy , also known as seizure disorder. Seizure Basics Under ... over and over might indicate the ongoing condition epilepsy . Febrile seizures can happen in children younger than ...

  3. Seizures

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy First Aid: Seizures KidsHealth > For Parents > First Aid: Seizures Print A A A Text Size en ... Seizures Febrile Seizures Brain and Nervous System Epilepsy First Aid: Febrile Seizures Word! Seizure Epilepsy Epilepsy Contact Us ...

  4. Disinhibition-induced transitions between absence and tonic-clonic epileptic seizures

    PubMed Central

    Fan, Denggui; Wang, Qingyun; Perc, Matjaž

    2015-01-01

    Electrophysiological experiments have long revealed the existence of two-way transitions between absence and tonic-clonic epileptic seizures in the cerebral cortex. Based on a modified spatially-extended Taylor & Baier neural field model, we here propose a computational framework to mathematically describe the transition dynamics between these epileptic seizures. We first demonstrate the existence of various transition types that are induced by disinhibitory functions between two inhibitory variables in an isolated Taylor & Baier model. Moreover, we show that these disinhibition-induced transitions can lead to stable tonic-clonic oscillations as well as periodic spike with slow-wave discharges, which are the hallmark of absence seizures. We also observe fascinating dynamical states, such as periodic 2-spike with slow-wave discharges, tonic death, bursting oscillations, as well as saturated firing. Most importantly, we identify paths that represent physiologically plausible transitions between absence and tonic-clonic seizures in the modified spatially-extended Taylor & Baier model. PMID:26224066

  5. Using Relevance Feedback to Distinguish the Changes in EEG During Different Absence Seizure Phases.

    PubMed

    Li, Jing; Liu, Xianzeng; Ouyang, Gaoxiang

    2016-07-01

    We carried out a series of statistical experiments to explore the utility of using relevance feedback on electroencephalogram (EEG) data to distinguish between different activity states in human absence epilepsy. EEG recordings from 10 patients with absence epilepsy are sampled, filtered, selected, and dissected from seizure-free, preseizure, and seizure phases. A total of 112 two-second 19-channel EEG epochs from 10 patients were selected from each phase. For each epoch, multiscale permutation entropy of the EEG data was calculated. The feature dimensionality was reduced by linear discriminant analysis to obtain a more discriminative and compact representation. Finally, a relevance feedback technique, that is, direct biased discriminant analysis, was applied to 68 randomly selected queries over nine iterations. This study is a first attempt to apply the statistical analysis of relevance feedback to the distinction of different EEG activity states in absence epilepsy. The average precision in the top 10 returned results was 97.5%, and the standard deviation suggested that embedding relevance feedback can effectively distinguish different seizure phases in absence epilepsy. The experimental results indicate that relevance feedback may be an effective tool for the prediction of different activity states in human absence epilepsy. The simultaneous analysis of multichannel EEG signals provides a powerful tool for the exploration of abnormal electrical brain activity in patients with epilepsy. PMID:25245133

  6. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

    PubMed

    Audenaert, D; Claes, L; Ceulemans, B; Löfgren, A; Van Broeckhoven, C; De Jonghe, P

    2003-09-23

    Generalized epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous syndrome with childhood onset, characterized by febrile seizures (FS) and a variety of afebrile epileptic seizure types. The authors performed a mutational analysis of SCN1B on 74 unrelated probands with GEFS+, FS, or FS plus (FS+). In a family with FS+ and early-onset absence epilepsy, a mutation was identified that predicts a deletion of five amino acids in the extracellular immunoglobulin-like domain of SCN1B and potential loss of function. SCN1B mutations are associated with GEFS+ and may have a role in the elicitation of absence seizures. PMID:14504340

  7. Neurochemical and Behavioral Features in Genetic Absence Epilepsy and in Acutely Induced Absence Seizures

    PubMed Central

    Bazyan, A. S.; van Luijtelaar, G.

    2013-01-01

    The absence epilepsy typical electroencephalographic pattern of sharp spikes and slow waves (SWDs) is considered to be due to an interaction of an initiation site in the cortex and a resonant circuit in the thalamus. The hyperpolarization-activated cyclic nucleotide-gated cationic Ih pacemaker channels (HCN) play an important role in the enhanced cortical excitability. The role of thalamic HCN in SWD occurrence is less clear. Absence epilepsy in the WAG/Rij strain is accompanied by deficiency of the activity of dopaminergic system, which weakens the formation of an emotional positive state, causes depression-like symptoms, and counteracts learning and memory processes. It also enhances GABAA receptor activity in the striatum, globus pallidus, and reticular thalamic nucleus, causing a rise of SWD activity in the cortico-thalamo-cortical networks. One of the reasons for the occurrence of absences is that several genes coding of GABAA receptors are mutated. The question arises: what the role of DA receptors is. Two mechanisms that cause an infringement of the function of DA receptors in this genetic absence epilepsy model are proposed. PMID:23738145

  8. A brief history on the oscillating roles of thalamus and cortex in absence seizures

    PubMed Central

    Avoli, Massimo

    2016-01-01

    Summary This review summarizes the findings obtained over the past 70 years on the fundamental mechanisms underlying generalized spike-wave (SW) discharges associated with absence seizures. Thalamus and cerebral cortex are the brain areas that have attracted most of the attention from both clinical and experimental researchers. However, these studies have often favored either one or the other structure in playing a major role, thus leading to conflicting interpretations. Beginning with Jasper and Penfield’s topistic view of absence seizures as the result of abnormal functions in the so-called centrencephalon, we witness the naissance of a broader concept that considered both thalamus and cortex as equal players in the process of SW discharge generation. Furthermore, we discuss how recent studies have identified fine changes in cortical and thalamic excitability that may account for the expression of absence seizures in naturally occurring genetic rodent models and knockout mice. The end of this fascinating tale is presumably far from being written. However, I can confidently conclude that in the unfolding of this “novel,” we have discovered several molecular, cellular, and pharmacologic mechanisms that govern forebrain excitability, and thus consciousness, during the awake state and sleep. PMID:22360294

  9. Absence-like seizures and their pharmacological profile in tottering-6j mice.

    PubMed

    Kim, Tae Yeon; Maki, Takehiro; Zhou, Ying; Sakai, Keita; Mizuno, Yuri; Ishikawa, Akiyoshi; Tanaka, Ryo; Niimi, Kimie; Li, Weidong; Nagano, Norihiro; Takahashi, Eiki

    We previously showed that recessive ataxic tottering-6j mice carried a base substitution (C-to-A) in the consensus splice acceptor sequence linked to exon 5 of the α1 subunit of the Cav2.1 channel gene (Cacna1a), resulting in the skipping of exon 5 and deletion of part of the S4-S5 linker, S5, and part of the S5-S6 linker in domain I of the α1 subunit of the Cav2.1 channel. However, the electrophysiological and pharmacological consequences of this mutation have not previously been investigated. Upon whole-cell patch recording of the recombinant Cav2.1 channel in heterologous reconstitution expression systems, the mutant-type channel exhibited a lower recovery time after inactivation of Ca(2+) channel current, without any change in peak current density or the current-voltage relationship. Tottering-6j mice exhibited absence-like seizures, characterized by bilateral and synchronous 5-8 Hz spike-and-wave discharges on cortical and hippocampal electroencephalograms, concomitant with sudden immobility and staring. The pharmacological profile of the seizures was similar to that of human absence epilepsy; the seizures were inhibited by ethosuximide and valproic acid, but not by phenytoin. Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy. PMID:26002462

  10. Insights into the Mechanisms of Absence Seizure Generation Provided by EEG with Functional MRI

    PubMed Central

    Carney, Patrick W.; Jackson, Graeme D.

    2014-01-01

    Absence seizures (AS) are brief epileptic events characterized by loss of awareness with subtle motor features. They may be very frequent, and impact on attention, learning, and memory. A number of pathophysiological models have been developed to explain the mechanism of absence seizure generation, which relies heavily on observations from animal studies. Studying the structural and functional relationships between large-scale brain networks in humans is only practical with non-invasive whole brain techniques. EEG with functional MRI (EEG-fMRI) is one such technique that provides an opportunity to explore the interactions between brain structures involved in AS generation. A number of fMRI techniques including event-related analysis, time-course analysis, and functional connectivity (FC) have identified a common network of structures involved in AS. This network comprises the thalamus, midline, and lateral parietal cortex [the default mode network (DMN)], caudate nuclei, and the reticular structures of the pons. The main component displaying an increase in blood oxygen level dependent (BOLD) signal relative to the resting state, in group studies, is the thalamus while the most consistent cortical change is reduced BOLD signal in the DMN. Time-course analysis shows that, rather than some structures being activated or inactivated during AS, there appears to be increase in activity across components of the network preceding or following the electro-clinical onset of the seizure. The earliest change in BOLD signal occurs in the DMN, prior to the onset of epileptiform events. This region also shows altered FC in patients with AS. Hence, it appears that engagement of this network is central to AS. In this review, we will explore the insights of EEG-fMRI studies into the mechanisms of AS and consider how the DMN is likely to be the major large-scale brain network central to both seizure generation and seizure manifestations. PMID:25225491

  11. Transplantation of GABAergic Interneurons into the Neonatal Primary Visual Cortex Reduces Absence Seizures in Stargazer Mice.

    PubMed

    Hammad, Mohamed; Schmidt, Stephen L; Zhang, Xuying; Bray, Ryan; Frohlich, Flavio; Ghashghaei, H Troy

    2015-09-01

    Epilepsies are debilitating neurological disorders characterized by repeated episodes of pathological seizure activity. Absence epilepsy (AE) is a poorly understood type of seizure with an estimated 30% of affected patients failing to respond to antiepileptic drugs. Thus, novel therapies are needed for the treatment of AE. A promising cell-based therapeutic strategy is centered on transplantation of embryonic neural stem cells from the medial ganglionic eminence (MGE), which give rise to gamma-aminobutyric acidergic (GABAergic) interneurons during embyronic development. Here, we used the Stargazer (Stg) mouse model of AE to map affected loci using c-Fos immunohistochemistry, which revealed intense seizure-induce activity in visual and somatosensory cortices. We report that transplantation of MGE cells into the primary visual cortex (V1) of Stg mice significantly reduces AE episodes and lowers mortality. Electrophysiological analysis in acute cortical slices of visual cortex demonstrated that Stg V1 neurons exhibit more pronounced increases in activity in response to a potassium-mediated excitability challenge than wildtypes (WT). The defective network activity in V1 was significantly altered following WT MGE transplantation, associating it with behavioral rescue of seizures in Stgs. Taken together, these findings present MGE grafting in the V1 as a possible clinical approach in the treatment of AE. PMID:24812085

  12. Rebound burst firing in the reticular thalamus is not essential for pharmacological absence seizures in mice.

    PubMed

    Lee, Seung Eun; Lee, Jaekwang; Latchoumane, Charles; Lee, Boyoung; Oh, Soo-Jin; Saud, Zahangir Alam; Park, Cheongdahm; Sun, Ning; Cheong, Eunji; Chen, Chien-Chang; Choi, Eui-Ju; Lee, C Justin; Shin, Hee-Sup

    2014-08-12

    Intrinsic burst and rhythmic burst discharges (RBDs) are elicited by activation of T-type Ca(2+) channels in the thalamic reticular nucleus (TRN). TRN bursts are believed to be critical for generation and maintenance of thalamocortical oscillations, leading to the spike-and-wave discharges (SWDs), which are the hallmarks of absence seizures. We observed that the RBDs were completely abolished, whereas tonic firing was significantly increased, in TRN neurons from mice in which the gene for the T-type Ca(2+) channel, CaV3.3, was deleted (CaV3.3(-/-)). Contrary to expectations, there was an increased susceptibility to drug-induced SWDs both in CaV3.3(-/-) mice and in mice in which the CaV3.3 gene was silenced predominantly in the TRN. CaV3.3(-/-) mice also showed enhanced inhibitory synaptic drive onto TC neurons. Finally, a double knockout of both CaV3.3 and CaV3.2, which showed complete elimination of burst firing and RBDs in TRN neurons, also displayed enhanced drug-induced SWDs and absence seizures. On the other hand, tonic firing in the TRN was increased in these mice, suggesting that increased tonic firing in the TRN may be sufficient for drug-induced SWD generation in the absence of burst firing. These results call into question the role of burst firing in TRN neurons in the genesis of SWDs, calling for a rethinking of the mechanism for absence seizure induction. PMID:25071191

  13. [Seizure].

    PubMed

    Saito, Ayumi; Terayama, Yasuo

    2013-06-01

    Seizure is defined as "a strong shrinkage state of the skeletal muscle which is involuntary, and occurs spasmodically" and it is often accompanied by disturbance of consciousness. The typical disease which causes seizure is epilepsy. But there is many conditions causing seizure. Therefore, diagnosis of epilepsy should be careful. Seizure among eldery increases in an era of an aging population in Japan. The risk of recurrence of seizure or epilepsy in elderly is higher than that in youth. In considering of the treatment of seizure among elderly, differential diagnosis from various condition must be done. PMID:23855204

  14. Seizures

    MedlinePlus

    ... defects) Brain tumor (rare) Drug abuse Electric shock Epilepsy Fever (particularly in young children) Head injury Heart ... age. There may be a family history of epilepsy or seizures. If seizures continue repeatedly after the ...

  15. Interaction of flunarizine with sodium valproate or ethosuximide in gamahydroxybutyrate induced absence seizures in rats.

    PubMed

    Subramanyam, K; David, J; Joseph, T

    2001-10-01

    Sodium valproate(VPA), ethosuximide(ESM), 200 mg/kg ip and flunarizine (FLU) 5 or 10 mg/kg ip were first administered independently to rats in order to study their effects on behavioural and EEG aspects of spike and wave discharges (SWDs) induced by y- hydroxybutyrate (GHB,100 mg/kg ip). GHB treated rats show behavioural changes and concomitant repetitive EEG episodes of 7 to 9 Hz SWDs, mimicking human absence seizures (AS), and can be used as a pharmacological model. The number and duration of SWDs were calculated for 1 hr from the EEG and were parameters for drug evaluation. VPA and ESM at 200 mg/kg, significantly reduced SWD number and duration/hr, while FLU showed significant reduction only at 10 but not at 5 mg/kg. Combination of FLU, 10 mg/kg with either VPA or ESM showed significant reduction of SWD number and duration, suggesting an additive effect of the anti-absence agents with the calcium channel blocker, FLU, on experimental absence seizures in rats. PMID:11883524

  16. Analysis of absence seizure generation using EEG spatial-temporal regularity measures.

    PubMed

    Mammone, Nadia; Labate, Domenico; Lay-Ekuakille, Aime; Morabito, Francesco C

    2012-12-01

    Epileptic seizures are thought to be generated and to evolve through an underlying anomaly of synchronization in the activity of groups of neuronal populations. The related dynamic scenario of state transitions is revealed by detecting changes in the dynamical properties of Electroencephalography (EEG) signals. The recruitment procedure ending with the crisis can be explored through a spatial-temporal plot from which to extract suitable descriptors that are able to monitor and quantify the evolving synchronization level from the EEG tracings. In this paper, a spatial-temporal analysis of EEG recordings based on the concept of permutation entropy (PE) is proposed. The performance of PE are tested on a database of 24 patients affected by absence (generalized) seizures. The results achieved are compared to the dynamical behavior of the EEG of 40 healthy subjects. Being PE a feature which is dependent on two parameters, an extensive study of the sensitivity of the performance of PE with respect to the parameters' setting was carried out on scalp EEG. Once the optimal PE configuration was determined, its ability to detect the different brain states was evaluated. According to the results here presented, it seems that the widely accepted model of "jump" transition to absence seizure should be in some cases coupled (or substituted) by a gradual transition model characteristic of self-organizing networks. Indeed, it appears that the transition to the epileptic status is heralded before the preictal state, ever since the interictal stages. As a matter of fact, within the limits of the analyzed database, the frontal-temporal scalp areas appear constantly associated to PE levels higher compared to the remaining electrodes, whereas the parieto-occipital areas appear associated to lower PE values. The EEG of healthy subjects neither shows any similar dynamic behavior nor exhibits any recurrent portrait in PE topography. PMID:23186273

  17. A Critical Evaluation of the Gamma-Hydroxybutyrate (GHB) Model of Absence Seizures

    PubMed Central

    Venzi, Marcello; Di Giovanni, Giuseppe; Crunelli, Vincenzo

    2015-01-01

    Typical absence seizures (ASs) are nonconvulsive epileptic events which are commonly observed in pediatric and juvenile epilepsies and may be present in adults suffering from other idiopathic generalized epilepsies. Our understanding of the pathophysiological mechanisms of ASs has been greatly advanced by the availability of genetic and pharmacological models, in particular the γ-hydroxybutyrate (GHB) model which, in recent years, has been extensively used in studies in transgenic mice. GHB is an endogenous brain molecule that upon administration to various species, including humans, induces not only ASs but also a state of sedation/hypnosis. Analysis of the available data clearly indicates that only in the rat does there exist a set of GHB-elicited behavioral and EEG events that can be confidently classified as ASs. Other GHB activities, particularly in mice, appear to be mostly of a sedative/hypnotic nature: thus, their relevance to ASs requires further investigation. At the molecular level, GHB acts as a weak GABA-B agonist, while the existence of a GHB receptor remains elusive. The pre- and postsynaptic actions underlying GHB-elicited ASs have been thoroughly elucidated in thalamus, but little is known about the cellular/network effects of GHB in neocortex, the other brain region involved in the generation of ASs. PMID:25403866

  18. A critical evaluation of the gamma-hydroxybutyrate (GHB) model of absence seizures.

    PubMed

    Venzi, Marcello; Di Giovanni, Giuseppe; Crunelli, Vincenzo

    2015-02-01

    Typical absence seizures (ASs) are nonconvulsive epileptic events which are commonly observed in pediatric and juvenile epilepsies and may be present in adults suffering from other idiopathic generalized epilepsies. Our understanding of the pathophysiological mechanisms of ASs has been greatly advanced by the availability of genetic and pharmacological models, in particular the γ-hydroxybutyrate (GHB) model which, in recent years, has been extensively used in studies in transgenic mice. GHB is an endogenous brain molecule that upon administration to various species, including humans, induces not only ASs but also a state of sedation/hypnosis. Analysis of the available data clearly indicates that only in the rat does there exist a set of GHB-elicited behavioral and EEG events that can be confidently classified as ASs. Other GHB activities, particularly in mice, appear to be mostly of a sedative/hypnotic nature: thus, their relevance to ASs requires further investigation. At the molecular level, GHB acts as a weak GABA-B agonist, while the existence of a GHB receptor remains elusive. The pre- and postsynaptic actions underlying GHB-elicited ASs have been thoroughly elucidated in thalamus, but little is known about the cellular/network effects of GHB in neocortex, the other brain region involved in the generation of ASs. PMID:25403866

  19. Experimental absence seizures: potential role of gamma-hydroxybutyric acid and GABAB receptors.

    PubMed

    Bernasconi, R; Lauber, J; Marescaux, C; Vergnes, M; Martin, P; Rubio, V; Leonhardt, T; Reymann, N; Bittiger, H

    1992-01-01

    We have investigated whether the pathogenesis of spontaneous generalized non-convulsive seizures in rats with genetic absence epilepsy is due to an increase in the brain levels of gamma-hydroxybutyric acid (GHB) or in the rate of its synthesis. Concentrations of GHB or of its precursor gamma-butyrolactone (GBL) were measured with a new GC/MS technique which allows the simultaneous assessment of GHB and GBL. The rate of GHB synthesis was estimated from the increase in GHB levels after inhibition of its catabolism with valproate. The results of this study do not indicate significant differences in GHB or GBL levels, or in their rates of synthesis in rats showing spike-and-wave discharges (SWD) as compared to rats without SWD. Binding data indicate that GHB, but not GBL, has a selective, although weak affinity for GABAB receptors (IC50 = 150 microM). Similar IC50 values were observed in membranes prepared from rats showing SWD and from control rats. The average GHB brain levels of 2.12 +/- 0.23 nmol/g measured in the cortex and of 4.28 +/- 0.90 nmol/g in the thalamus are much lower than the concentrations necessary to occupy a major part of the GABAB receptors. It is unlikely that local accumulations of GHB reach concentrations 30-70-fold higher than the average brain levels. After injection of 3.5 mmol/kg GBL, a dose sufficient to induce SWD, brain concentrations reach 240 +/- 31 nmol/g (Snead, 1991) and GHB could thus stimulate the GABAB receptor. Like the selective and potent GABAB receptor agonist R(-)-baclofen, GHB causes a dose-related decrease in cerebellar cGMP. This decrease and the increase in SWD caused by R(-)-baclofen were completely blocked by the selective and potent GABAB receptor antagonist CGP 35348, whereas only the increase in the duration of SWD induced by GHB was totally antagonized by CGP 35348. The decrease in cerebellar cGMP levels elicited by GHB was only partially antagonized by CGP 35348. These findings suggest that all effects of R

  20. An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome

    PubMed Central

    Kim, Tae-Kyoung; Jung, Eui Sung; Park, Jong-Moo; Kang, Kyusik; Lee, Woong-Woo; Lee, Jung-Ju

    2016-01-01

    Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion. PMID:27390677

  1. An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome.

    PubMed

    Kim, Tae-Kyoung; Jung, Eui Sung; Park, Jong-Moo; Kang, Kyusik; Lee, Woong-Woo; Lee, Jung-Ju

    2016-06-01

    Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion. PMID:27390677

  2. GABAB receptors as a common target for hypothermia and spike and wave seizures: intersecting mechanisms of thermoregulation and absence epilepsy.

    PubMed

    Ostojić, Z S; Ilić, T V; Vesković, S M; Andjus, P R

    2013-05-15

    In the current study the link among the γ-hydroxybutyrate (GHB)/pentylenetetrazole (PTZ)-induced absence-like seizures and concomitant decreases in the core temperature, as well as electroencephalographic (EEG) activity during rewarming from deep hypothermia produced by a drug-free protocol were investigated. During the rewarming period after deep cooling, most Wistar rats suffered from bilaterally synchronous spike and waves with no or mild behavioral correlates. Spike and wave seizures were temperature-dependent and were initially registered when body temperature (Tb) reached 25-27°C, but mostly during the mild hypothermia of 0.3-1.3°C (Tb of 36.3-37.3°C). In chemical absence models, spike and wave discharges were also closely accompanied by mild systemic hypothermia, as both PTZ- and GHB-induced temperature decreases ranged from about 1-1.4°C respectively, together with EEG markers of absence activity. Thus, throughout the different experimental designs, the occurrence of spike and wave discharges was always related to a mild (0.3-1.4°C) decrease of Tb. Benzodiazepine diazepam as the GABAA-positive allosteric modulator and CGP 62349 as the selective antagonist of GABAB receptors were used to determine if their well-known anticonvulsant properties also affect hypothermia elicited by these drugs. Finally, during the course of spontaneous rewarming from deep hypothermia, another selective GABAB-blocking agent, CGP 35348, was used to elucidate if GABAB inhibitory system could be critically implicated in the generation of hypothermia-dependent spike and waves. Diazepam prevented both the PTZ-induced hypothermia and electrographic absence seizures, but these two beneficial effects did not occur in the GHB model. Even though diazepam delayed GHB-induced maximal temperature decrease, the GHB effects remained highly significant. The GABAB antagonist CGP 62349 completely prevented hypothermia as well as absence seizures in both chemical models. Likewise, spike and

  3. γ-Hydroxybutyric Acid-Induced Electrographic Seizures

    PubMed Central

    Cheung, Joseph; Lucey, Brendan P.; Duntley, Stephen P.; Darken, Rachel S.

    2014-01-01

    We describe a case of absence-like electrographic seizures during NREM sleep in a patient who was taking sodium oxybate, a sodium salt of γ-hydroxybutyric acid (GHB). An overnight full montage electroencephalography (EEG) study revealed numerous frontally predominant rhythmic 1.5-2 Hz sharp waves and spike-wave activity during stage N2 and N3 sleep at the peak dose time for sodium oxybate, resembling atypical absence-like electrographic seizures. The patient was later weaned off sodium oxybate, and a repeat study did not show any such electrographic seizures. Absence-like seizures induced by GHB had previously been described in experimental animal models. We present the first reported human case of absence-like electrographic seizure associated with sodium oxybate. Citation: Cheung J, Lucey BP, Duntley SP, Darken RS. γ-hydroxybutyric acid-induced electrographic seizures. J Clin Sleep Med 2014;10(7):811-812. PMID:25024661

  4. Cannabis agonist injection effect on the coupling architecture in cortex of WAG/Rij rats during absence seizures

    NASA Astrophysics Data System (ADS)

    Sysoeva, Marina V.; Kuznetsova, Galina D.; van Rijn, Clementina M.; Sysoev, Ilya V.

    2016-04-01

    WAG/Rij rats are well known genetic model of absence epilepsy, which is traditionally considered as a nonconvulsive generalised epilepsy of unknown aetiology. In current study the effect of (R)-(+)-WIN 55,212-2 (cannabis agonist) injection on the coupling between different parts of cortex was studied on 27 male 8 month old rats using local field potentials. Recently developed non-linear adapted Granger causality approach was used as a primary method. It was shown that first 2 hours after the injection the coupling between most channel pairs rises in comparison with the spontaneous activity, whilst long after the injection (2-6 hours) it drops down. The coupling increase corresponds to the mentioned before treatment effect, when the number and the longitude of seizures significantly decreases. However the subsequent decrease of the coupling in the cortex is accompanied by the dramatic increase of the longitude and the number of seizures. This assumes the hypothesis that a relatively higher coupling in the cortical network can prevent the seizure propagation and generalisation.

  5. Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report

    PubMed Central

    Sagayaraj, Benjamin; Kumar, Radha

    2015-01-01

    Seizures coexists in children with intellectual disability and are often attributed to neural dysfunction associated with it. Often a careful clinical examination will unravel many diagnostic pointers as in this 8-year-old child with global development delay, deaf-mutism and moderate intellectual disability (mental retardation) who presented with seizures in the emergency department. General examination revealed dysmorphic features like anonychia, low set ears, long philtrum, large lower lips and abnormal dermatoglyphics with features of osteodystrophy on radiology. She was diagnosed as a case of DOORS syndrome, an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported, worldwide till date, since its first description in 1961. Her genetic analysis did not reveal the common TBC1D24 mutation in 16p13.3 resulting often from substitutions affecting the arginine at position 242, in spite of all classical clinical features associated with it, suggesting genetic heterogeneity in DOORS syndrome. Though four year follow-up revealed changes in seizure pattern, there was no optic atrophy, change in IQ or peripheral nerve problem. This probably suggests that children with typical clinical features and TBC1D24 mutations may have more progressive deterioration than those without it and newer molecular techniques may identify unexplained phenotypic expressions. PMID:26023614

  6. Intracranial Tuberculoma Presenting as Atypical Eclampsia: A Case Report

    PubMed Central

    Murugesan, Sharmila; Pradeep, Sunitha; John, Lopamudra; Kolluru, Vasavi

    2016-01-01

    Occurrence of eclampsia before 20 weeks of pregnancy and after 48 hours of delivery in the absence of typical signs of hypertension and or proteinuria is termed as atypical eclampsia. Atypical or non-classic eclampsia will have some symptoms of eclampsia but without the usual proteinuria or hypertension. All patients with atypical onset should undergo neurological evaluation to rule out neurologic causes of seizures. Cerebral tuberculosis is a rare and serious form of disease secondary to haematogenous spread of Mycobacterium tuberculosis. Here we present a case of cerebral tuberculoma with seizures in late pregnancy mimicking eclampsia.

  7. γ-Hydroxybutyric acid-induced electrographic seizures.

    PubMed

    Cheung, Joseph; Lucey, Brendan P; Duntley, Stephen P; Darken, Rachel S

    2014-07-15

    We describe a case of absence-like electrographic seizures during NREM sleep in a patient who was taking sodium oxybate, a sodium salt of γ-hydroxybutyric acid (GHB). An overnight full montage electroencephalography (EEG) study revealed numerous frontally predominant rhythmic 1.5-2 Hz sharp waves and spike-wave activity during stage N2 and N3 sleep at the peak dose time for sodium oxybate, resembling atypical absence-like electrographic seizures. The patient was later weaned off sodium oxybate, and a repeat study did not show any such electrographic seizures. Absence-like seizures induced by GHB had previously been described in experimental animal models. We present the first reported human case of absence-like electrographic seizure associated with sodium oxybate. PMID:25024661

  8. Absence of femoral cortical thickening in long-term bisphosphonate users: Implications for atypical femur fractures

    PubMed Central

    Chen, Foster; Wang, Zhong; Bhattacharyya, Timothy

    2014-01-01

    The radiographs of patients on long term bisphosphonates with atypical femur fractures demonstrate markedly thick cortices at the site of the fracture. We conducted a prospective clinical study to determine if cortical thickening is increased in long term bisphosphonate users. We recruited 43 patients who had taken bisphosphonates for more than 5 years. A group of 45 healthy volunteers and 12 patients recently diagnosed with osteoporosis served as controls. We measured the cortical thickening as the ratio of femoral cortical thickness to diameter of the femur, and looked for cortical beaking. No difference in the cortical thickness ratio was observed between long term bisphosphonate users and osteoporotic controls (0.53 vs. 0.54, p= 0.659). No cases of cortical beaking were seen and no increase in thigh pain was observed. The power of the study was 95% to detect a 10% difference in cortical thickness ratio. We conclude that long term bisphosphonate use does not produce a generalized increase in subtrochanteric femoral cortical thickening in the majority of patients. PMID:24468718

  9. Dynamics of networks during absence seizure's on- and offset in rodents and man

    PubMed Central

    Lüttjohann, Annika; van Luijtelaar, Gilles

    2015-01-01

    Network mechanisms relevant for the generation, maintenance and termination of spike-wave discharges (SWD), the neurophysiological hallmark of absence epilepsy, are still enigmatic and widely discussed. Within the last years, however, improvements in signal analytical techniques, applied to both animal and human fMRI, EEG, MEG, and ECoG data, greatly increased our understanding and challenged several, dogmatic concepts of SWD. This review will summarize these recent data, demonstrating that SWD are not primary generalized, are not sudden and unpredictable events. It will disentangle different functional contributions of structures within the cortico-thalamo-cortical system, relevant for the generation, generalization, maintenance, and termination of SWD and will present a new “network based” scenario for these oscillations. Similarities and differences between rodent and human data are presented demonstrating that in both species a local cortical onset zone of SWD exists, although with different locations; that in both some forms of cortical and thalamic precursor activity can be found, and that SWD occur through repetitive cyclic activity between cortex and thalamus. The focal onset zone in human data could differ between patients with varying spatial and temporal dynamics; in rats the latter is still poorly investigated. PMID:25698972

  10. Using ictal high-frequency oscillations (80-500Hz) to localize seizure onset zones in childhood absence epilepsy: a MEG study.

    PubMed

    Miao, Ailiang; Xiang, Jing; Tang, Lu; Ge, Huaiting; Liu, Hongxing; Wu, Ting; Chen, Qiqi; Hu, Zheng; Lu, Xiaopeng; Wang, Xiaoshan

    2014-04-30

    This study aimed to use ictal high-frequency oscillations (HFOs) ranging from 80Hz to 500Hz to locate seizure onset zones in childhood absence epilepsy (CAE) using non-invasive magnetoencephalography (MEG). Ten drug-naïve children with CAE were studied using a 275-channel MEG system. MEG data were digitized at a sampling rate of 6000Hz. HFO spectral power in real-time spectrograms was assessed using Morlet continuous wavelet transform. Magnetic sources were volumetrically localized through dynamic magnetic source imaging with a slide window. HFOs were identified in all patients. The total time of fast ripples (250-500Hz) was greater than that of ripples (80-250Hz) during absence seizures. The rate of fast ripples was associated with seizure frequency. HFO duration was significantly longer when co-occurring with spikes than when occurring independently, and the maximum frequency of HFOs co-occurring with spikes was higher than that of HFOs occurring independently. HFOs were predominantly localized in the medial prefrontal cortex (MPFC), whereas spikes were widespread to a variety of regions during the absence seizures. Compared with spikes, HFOs appeared to be more focal. The findings indicate that HFOs in the MPFC have a primary function in initializing epileptic activity in CAE. PMID:24582907

  11. Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures.

    PubMed

    Venzi, Marcello; David, François; Bellet, Joachim; Cavaccini, Anna; Bombardi, Cristiano; Crunelli, Vincenzo; Di Giovanni, Giuseppe

    2016-09-01

    Absence seizures (ASs) are the hallmark of childhood/juvenile absence epilepsy. Monotherapy with first-line anti-absence drugs only controls ASs in 50% of patients, indicating the need for novel therapeutic targets. Since serotonin family-2 receptors (5-HT2Rs) are known to modulate neuronal activity in the cortico-thalamo-cortical loop, the main network involved in AS generation, we investigated the effect of selective 5-HT2AR and 5-HT2CR ligands on ASs in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS), a well established polygenic rat model of these non-convulsive seizures. GAERS rats were implanted with fronto-parietal EEG electrodes under general anesthesia, and their ASs were later recorded under freely moving conditions before and after intraperitoneal administration of various 5-HT2AR and 5-HT2CR ligands. The 5-HT2A agonist TCB-2 dose-dependently decreased the total time spent in ASs, an effect that was blocked by the selective 5-HT2A antagonist MDL11,939. Both MDL11,939 and another selective 5-HT2A antagonist (M100,907) increased the length of individual seizures when injected alone. The 5-HT2C agonists lorcaserin and CP-809,101 dose-dependently suppressed ASs, an effect blocked by the selective 5-HT2C antagonist SB 242984. In summary, 5-HT2ARs and 5-HT2CRs negatively control the expression of experimental ASs, indicating that selective agonists at these 5-HT2R subtypes might be potential novel anti-absence drugs. PMID:27085605

  12. Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.

    PubMed

    Witsch, Jens; Golkowski, Daniel; Hahn, Thomas T G; Petrou, Steven; Spors, Hartwig

    2015-05-01

    Childhood absence epilepsy (CAE) is one of the most common forms of epilepsy among children. The study of a large Australian family demonstrated that a point mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor (G2R43Q) leads to an autosomal dominantly inherited form of CAE and febrile seizures (FS). In a transgenic mouse model carrying the gamma2 (R43Q) mutation heterozygous animals recapitulate the human phenotype. In-vitro experiments indicated that this point mutation impairs cortical inhibition and thus increases the likelihood of seizures. Here, using whole-cell (WC) and extracellular (EC) recordings as well as voltage-sensitive dye imaging (VSDI), we systematically searched for an in vivo correlate of cortical alterations caused by the G2R43Q mutation, as suggested by the mentioned in vitro results. We measured spontaneous and whisker-evoked activity in the primary somatosensory cortex and ventral posteriomedial nucleus of the thalamus (VPM) before and after intraperitoneal injection of the ictogenic substance pentylenetetrazol (PTZ) in urethane-anesthetized G2R43Q mice and controls in a blinded setting. Compared to wildtype controls in G2R43Q mice after PTZ injection we found 1.) Increased cortical spontaneous activity in layer 2/3 and layer 5/6 pyramidal neurons (increased standard deviation of the mean membrane potential in WC recordings), 2.) Increased variance of stimulus evoked cortical responses in VSDI experiments. 3.) The cortical effects are not due to increased strength or precision of thalamic output. In summary our findings support the hypothesis of a cortical pathology in this mouse model of human genetic absence epilepsy. Further study is needed to characterize underlying molecular mechanisms. PMID:25731747

  13. Potentiation of mGlu5 receptors with the novel enhancer, VU0360172, reduces spontaneous absence seizures in WAG/Rij rats

    PubMed Central

    D’Amore, V.; Santolini, I.; van Rijn, C.M.; Biagioni, F.; Molinaro, G.; Prete, A.; Conn, P.J.; Lindsley, C.W.; Zhou, Y.; Vinson, P.N.; Rodriguez, A.L.; Jones, C.K.; Stauffer, S.R.; Nicoletti, F.; van Luijtelaar, G.; Ngomba, R.T.

    2013-01-01

    Absence epilepsy is generated by the cortico-thalamo-cortical network, which undergoes a finely tuned regulation by metabotropic glutamate (mGlu) receptors. We have shown previously that potentiation of mGlu1 receptors reduces spontaneous occurring spike and wave discharges (SWDs) in the WAG/Rij rat model of absence epilepsy, whereas activation of mGlu2/3 and mGlu4 receptors produces the opposite effect. Here, we have extended the study to mGlu5 receptors, which are known to be highly expressed within the cortico-thalamo-cortical network. We used presymptomatic and symptomatic WAG/Rij rats and aged-matched ACI rats. WAG/Rij rats showed a reduction in the mGlu5 receptor protein levels and in the mGlu5-receptor mediated stimulation of polyphosphoinositide hydrolysis in the ventrobasal thalamus, whereas the expression of mGlu5 receptors was increased in the somatosensory cortex. Interestingly, these changes preceded the onset of the epileptic phenotype, being already visible in pre-symptomatic WAG/Rij rats. SWDs in symptomatic WAG/Rij rats were not influenced by pharmacological blockade of mGlu5 receptors with MTEP (10 or 30 mg/kg, i.p.), but were significantly decreased by mGlu5 receptor potentiation with the novel enhancer, VU0360172 (3 or 10 mg/kg, s.c.), without affecting motor behaviour. The effect of VU0360172 was prevented by co-treatment with MTEP. These findings suggest that changes in mGlu5 receptors might lie at the core of the absence-seizure prone phenotype of WAG/Rij rats, and that mGlu5 receptor enhancers are potential candidates to the treatment of absence epilepsy. PMID:22705340

  14. Potentiation of mGlu5 receptors with the novel enhancer, VU0360172, reduces spontaneous absence seizures in WAG/Rij rats.

    PubMed

    D'Amore, V; Santolini, I; van Rijn, C M; Biagioni, F; Molinaro, G; Prete, A; Conn, P J; Lindsley, C W; Zhou, Y; Vinson, P N; Rodriguez, A L; Jones, C K; Stauffer, S R; Nicoletti, F; van Luijtelaar, G; Ngomba, R T

    2013-03-01

    Absence epilepsy is generated by the cortico-thalamo-cortical network, which undergoes a finely tuned regulation by metabotropic glutamate (mGlu) receptors. We have shown previously that potentiation of mGlu1 receptors reduces spontaneous occurring spike and wave discharges (SWDs) in the WAG/Rij rat model of absence epilepsy, whereas activation of mGlu2/3 and mGlu4 receptors produces the opposite effect. Here, we have extended the study to mGlu5 receptors, which are known to be highly expressed within the cortico-thalamo-cortical network. We used presymptomatic and symptomatic WAG/Rij rats and aged-matched ACI rats. WAG/Rij rats showed a reduction in the mGlu5 receptor protein levels and in the mGlu5-receptor mediated stimulation of polyphosphoinositide hydrolysis in the ventrobasal thalamus, whereas the expression of mGlu5 receptors was increased in the somatosensory cortex. Interestingly, these changes preceded the onset of the epileptic phenotype, being already visible in pre-symptomatic WAG/Rij rats. SWDs in symptomatic WAG/Rij rats were not influenced by pharmacological blockade of mGlu5 receptors with MTEP (10 or 30 mg/kg, i.p.), but were significantly decreased by mGlu5 receptor potentiation with the novel enhancer, VU0360172 (3 or 10 mg/kg, s.c.), without affecting motor behaviour. The effect of VU0360172 was prevented by co-treatment with MTEP. These findings suggest that changes in mGlu5 receptors might lie at the core of the absence-seizure prone phenotype of WAG/Rij rats, and that mGlu5 receptor enhancers are potential candidates to the treatment of absence epilepsy. This article is part of a Special Issue entitled 'Metabotropic Glutamate Receptors'. PMID:22705340

  15. Comparative profiles of sodium valproate and ethosuximide on electro-behavioural correlates in gamma-hydroxybutyrate and pentylenetetrazol induced absence seizures in rats.

    PubMed

    Kumaresan, S; David, J; Joseph, T

    2000-10-01

    Sodium valproate (VPA) and ethosuximide (ESM) were compared on behavioural and EEG changes in gamma-hydroxybutyrate (GHB) and pentylenetetrazole (PTZ) rat models of Absence Seizures (AS). Both GHB, 100 mg/kg i.p. and PTZ, 20 mg/kg i.p., produced repetitive episodes of staring and immobility with concomitant 6 to 9 Hz spike and wave discharges (SWDs) in the EEG. The parameters used for drug evaluation were the number and duration of SWDs/hour. Though the number of SWDs/hour produced by GHB and PTZ were not significantly different, the duration of SWDs was significantly longer in GHB treated rats (P < 0.001) VPA and ESM, at 200 mg/kg i.p., reduced SWD number and duration in GHB pretreated rats, whereas ESM, 50 mg/kg i.p., was four times more effective than VPA, 200 mg/kg i.p., in the PTZ model. Phenytoin (PHY) 20 and Carbamazepine (CBZ) 10 mg/kg i.p., worsened AS, a feature which has also been reported clinically. Both rat models of experimental AS can be used to defect potential anti-absence activity in new chemical entities. PMID:11214495

  16. Febrile Seizures

    MedlinePlus

    ... or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do ... develop the reoccurring seizures that re characteristic of epilepsy. Certain children who have febrile seizures face an ...

  17. Febrile Seizures

    MedlinePlus

    ... febrile seizure does not mean a child has epilepsy, since that disorder is characterized by reoccurring seizures ... outcome but carry an increased risk of developing epilepsy. How common are febrile seizures? Febrile seizures are ...

  18. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.

    PubMed

    Hasselblatt, Martin; Isken, Sarah; Linge, Anna; Eikmeier, Kristin; Jeibmann, Astrid; Oyen, Florian; Nagel, Inga; Richter, Julia; Bartelheim, Kerstin; Kordes, Uwe; Schneppenheim, Reinhard; Frühwald, Michael; Siebert, Reiner; Paulus, Werner

    2013-02-01

    Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor characterized by genetic alterations affecting the SMARCB1 (hSNF5/INI1) locus in chromosome band 22q11.2. To identify potential additional genetic alterations, high-resolution genome-wide analysis was performed using a molecular inversion probe single-nucleotide polymorphism (MIP SNP) assay (Affymetrix OncoScan formalin-fixed paraffin-embedded express) on DNA isolated from 18 formalin-fixed paraffin-embedded archival samples. Alterations affecting the SMARCB1 locus could be demonstrated by MIP SNP in 15 out of 16 evaluable cases (94%). These comprised five tumors with homozygous deletions, six tumors with heterozygous deletions, and four tumors with copy number neutral loss of heterozygosity (LOH) involving chromosome band 22q11.2. Remarkably, MIB SNP analysis did not yield any further recurrent chromosomal gains, losses, or copy neutral LOH. On MIP SNP screening for somatic mutations, the presence of a SMARCB1 mutation (c.472C>T p.R158X) was confirmed, but no recurrent mutations of other cancer relevant genes could be identified. Results of fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and SMARCB1 sequencing were highly congruent with that of the MIP SNP assay. In conclusion, these data further suggest the absence of recurrent genomic alterations other than SMARCB1 in AT/RT. PMID:23074045

  19. Febrile seizures

    MedlinePlus

    American Academy of Pediatrics, Steering Committee on Quality Improvement and Management, Subcommittee on Febrile Seizures. Febrile seizures: clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics . 2008; ...

  20. Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.

    PubMed

    Dimova, Petia; Boneva, Iliyana; Todorova, Albena; Minotti, Lorella; Kahane, Philippe

    2012-06-01

    Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures. [Published with video sequences]. PMID:22591830

  1. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

    PubMed Central

    Thomas, Rhys H.; Zhang, Lin Mei; Carvill, Gemma L.; Archer, John S.; Heavin, Sinéad B.; Mandelstam, Simone A.; Craiu, Dana; Berkovic, Samuel F.; Gill, Deepak S.; Mefford, Heather C.

    2015-01-01

    Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. Methods: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. Results: Seizures began at a mean of 26 months (12–42) with myoclonic seizures in all 10 cases. Seven exhibited exquisite clinical photosensitivity; 6 self-induced with the television. Absence seizures occurred in 9 patients including typical (4), atypical (2), and absence seizures with eyelid myoclonias (4). Generalized tonic-clonic seizures occurred in 9 of 10 cases with a mean onset of 5.8 years. Convulsive and nonconvulsive status epilepticus were later features (6/10, mean onset 9 years). Tonic (40%) and atonic (30%) seizures also occurred. In 3 cases, an unusual seizure type, the atonic-myoclonic-absence was captured on video. A phenotypic spectrum was identified with 7 cases having moderate to severe intellectual disability and refractory seizures including tonic attacks. Their mean age at onset was 23 months. Three cases had a later age at onset (34 months) with relative preservation of intellect and an initial response to antiepileptic medication. Conclusion: The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. Recognition of this genetic entity will permit earlier diagnosis and enable the development of targeted therapies. PMID:25672921

  2. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

    PubMed

    Chang, Jiazhen; Zhao, Lijuan; Chen, Chen; Peng, Ying; Xia, Yan; Tang, Guizhi; Bai, Ting; Zhang, Yanghui; Ma, Ruiyu; Guo, Ruolan; Mei, Libin; Liang, Desheng; Cao, Qinying; Wu, Lingqian

    2015-09-10

    22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this study, we report a patient that carried a paternally inherited atypical 1.33Mb duplication at 22q11.23. The proband (or proposita) presented with hypotonia, feeding difficulties, intractable epilepsy, hearing disability, and pachygyria. A pachygyria phenotype had not been previously reported to be associated with a 22q11 microduplication syndrome. Cytogenetic and molecular genetic analyses based on standard G-banding, SNP array, and fluorescence in situ hybridization were performed for the proband and her parents. An atypical 1.33Mb duplication at 22q11.23 was detected in both the proband and her father. Thus, our findings verify the pathogenicity and diverse phenotypes of 22q11.2 microduplication and expand its phenotypic spectrum. PMID:26099517

  3. [Atypical odontalgia].

    PubMed

    Türp, Jens Christoph

    2005-01-01

    In spite of its first description by the English surgeon JOHN HUNTER more than 200 years ago, atypical odontalgia (AO), or phantom tooth pain, is not universally known among dentists. AO is a persistent neuropathic pain which may be initiated after deafferentiation of trigeminal nerve fibers following root canal treatment, apicectomy, or tooth extraction. In the absence of pathological clinical or radiological findings, the diagnosis is made by exclusion. After a thorough patient education about the condition, pharmacological and psychological pain management is required. Invasive and irreversible treatment attempts are contraindicated. PMID:16342640

  4. Atypicality of Atypical Antipsychotics

    PubMed Central

    Farah, Andrew

    2005-01-01

    Objective: To review the current definition of atypicality, discuss the unique features of each atypical antipsychotic, and determine whether the available drugs in this class really meet the classical definition of atypicality. Data Sources: A PubMed search was conducted to identify literature on the subject of this review, supported by additional articles based on the author's clinical knowledge and experience. Study Selection and Data Extraction: Relevant references were extracted and summarized in order to meet the objective of the article. Data Synthesis: Atypical antipsychotics are considered a major advance over conventional antipsychotics, primarily because they offer effective treatment alternatives that are relatively free of extrapyramidal symptoms. In fact, the term atypicality was originally used to describe antipsychotic agents with a minimal risk of causing extrapyramidal symptoms. However, over the years the definition has been modified such that there is currently no consensus on a true definition of atypicality for these agents. Each of the atypical antipsychotics (clozapine, risperidone, olanzapine, quetiapine, ziprasidone, and aripiprazole) commercially available in the United States is unique in terms of its pharmacologic profile, differing with respect to receptor-binding affinity, mechanism of action, and adverse events. Of the available atypical antipsychotics, clozapine and quetiapine have shown the lowest propensity to cause extrapyramidal symptoms. Although the risk of extra-pyramidal symptoms is lower with risperidone and olanzapine than with conventional antipsychotics, risk increases with dose escalation. Data for ziprasidone indicate that the risk of extrapyramidal symptoms may be similar to that of risperidone and olanzapine. There is a concern of akathisia with aripiprazole; however, more experience with this agent is needed before definitive conclusions are made. Conclusion: If the definition of “atypical” antipsychotic is

  5. [Ecstatic seizures].

    PubMed

    Likhachev, S A; Astapenko, A V; Osos, E L; Zmachynskaya, O L; Gvishch, T G

    2015-01-01

    Ecstatic seizures is a rare manifestation of epilepsy. They were described for the first time by F.M. Dostoevsky. Currently, the description of ecstatic seizures is possible to find in the scientific literature. The description of the own observation of a patient with emotional-affective seizures is presented. A role of the anterior insular cortex in the ecstatic seizures origin is discussed. The similarities between the feelings reported during ecstatic seizures and the feelings experienced under the effect of stimulant addictive drugs are described. The possible reasons of the low frequency of emotional-affective seizures are considered. PMID:26356170

  6. Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures.

    PubMed

    Kaminska, Anna; Oguni, Hirokazu

    2013-01-01

    Among nonsymptomatic epilepsies exhibiting several types of generalized seizures in children two syndromes were progressively identified: epilepsy with myoclonic-astatic seizures (MAE) and nonsymptomatic Lennox-Gastaut syndrome (LGS). Various approaches based on etiology, electroclinical semiology, and mathematical analysis have progressively helped to distinguish these two conditions. Both conditions preferentially affect boys. The course is stereotyped in MAE, characterized by progressive worsening of epilepsy, usual pharmacoresistance at onset and tonic-clonic seizures, myoclonus and frequent episodes of myoclonic status epilepticus. EEG shows 3Hz spike wave bursts characteristic of idiopathic generalized epilepsy together with slowing of the tracing. In LGS, major seizures are mainly atypical absences and tonic seizures with 0.5-2Hz slow spike-waves and eventually focal anomalies. Prognosis in both syndromes ranges from recovery without sequelae to pharmacoresistant epilepsy that has improved over the past 2 decades with the new generation antiepileptic compounds. Iatrogenic factors may contribute to the poor prognosis, mainly in MAE. Pathophysiology remains speculative for both syndromes: although both share factors of brain maturation, MAE is probably mainly related to genetic predisposition whereas LGS results from some unidentified cortical brain malformation. In unfavorable cases, there may therefore be a continuum between both syndromes. They need to be distinguished from other epilepsy syndromes and inborn errors of metabolism that begin in the same age range: atypical idiopathic benign epilepsy, frontal lobe epilepsy with secondary bisynchrony, ring chromosome 20, ceroid lipofuscinosis, and nonsymptomatic late-onset spasms. PMID:23622212

  7. Orgasm Induced Seizures: A Rare Phenomenon

    PubMed Central

    Chaukimath, SP; Patil, PS

    2015-01-01

    A variety of stimuli can cause reflex seizures, Some triggers include light, music and cognitive phenomenon. There are case reports however where the phenomenon of sexual activity has been a trigger for epileptic seizures. Most of these cases reported are in women so far, and were found to be localized to right cerebral hemisphere. We report a case of a 36-year-old male with orgasm-induced seizures, with other atypical features compared to majority of previous reports. PMID:27057393

  8. Orgasm Induced Seizures: A Rare Phenomenon.

    PubMed

    Chaukimath, S P; Patil, P S

    2015-01-01

    A variety of stimuli can cause reflex seizures, Some triggers include light, music and cognitive phenomenon. There are case reports however where the phenomenon of sexual activity has been a trigger for epileptic seizures. Most of these cases reported are in women so far, and were found to be localized to right cerebral hemisphere. We report a case of a 36-year-old male with orgasm-induced seizures, with other atypical features compared to majority of previous reports. PMID:27057393

  9. Febrile seizures

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000980.htm Febrile seizures To use the sharing features on this page, please enable JavaScript. A febrile seizure is a convulsion in a child triggered by ...

  10. Absence of multiple atypical chemokine binders (ACBs) and the presence of VEGF and MMP-9 predict axillary lymph node metastasis in early breast carcinomas.

    PubMed

    Zeng, Xiao-Hua; Ou, Zhou-Luo; Yu, Ke-Da; Feng, Lan-Yun; Yin, Wen-Jing; Li, Jing; Shen, Zhen-Zhou; Shao, Zhi-Min

    2014-09-01

    The aim of this study was to determine the frequency of axillary lymph node (ALN) metastasis of early breast cancers by evaluating the status of DARC, D6 and CCX-CKR and the levels of VEGF and MMP-9. The status of DARC, D6 and CCX-CKR and the levels VEGF and MMP-9 were evaluated in ALN- (n = 130) and ALN + (n = 88) patients with T1 breast cancer by immunohistochemical staining. For ALN, likelihood ratio χ (2)-tests were used for univariate analysis and logistic regression for multivariate analysis. Univariate analysis identified the nuclear grade, VEGF and MMP-9 expression and absence of DARC, D6 and CCX-CKR as predictors of ALN involvement. When combining the three receptors (DARC, D6 and CCX-CKR) together, tumors with multiple absence (multi-absence, any two or three loss) had a higher likelihood of being ALN positive than non-multi-absence (coexpression of any two or three) tumors (56.2 vs. 27.9 %, P < 0.001). The final multivariate logistic regression revealed nuclear grade, VEGF, MMP-9 and non-multi-absence versus multi-absence to be independent predictors of ALN involvement; the odds ratio (OR) and 95 % CI for non-multi-absence tumors versus multi-absence were 0.469 (0.233-0.943). Multi-absence was also associated with the involvement of four or more lymph nodes among ALN + tumors. Moreover, tumors with multi-absence had higher VEGF (78.1 vs. 50.0 %, P < 0.001) and MMP-9 (81.3 vs. 36.1 %, P < 0.001) expression than non-multi-absence tumors. Our data highlight that the absence of DARC, D6 and CCX-CKR in combination, which is associated with higher VEGF and MMP-9 expression, predicts the presence and extent of ALN metastasis in breast cancer. PMID:25097078

  11. Hypnopompic seizures.

    PubMed

    Awad, Amer M; Lüders, Hans O

    2010-12-01

    The relationship between epilepsy and sleep is complex and bidirectional. Ictal awakening is probably a common and well-described phenomenon. In this small observational study we describe arousal from sleep as the only, or at least main, manifestation of some epileptic seizures. We coin the term "hypnopompic seizures" to describe this entity. Five patients with intractable epilepsy were monitored by continuous video-electroencephalogram. Four of them had left temporal lobe epilepsy and one patient had generalised epilepsy. Hypnopompic seizures accounted for 30-100% of their seizure types captured during monitoring. All the seizures occurred during stage II sleep and were brief. Hypnopompic seizures are extremely subtle and may be underdiagnosed and underreported. Future larger studies are needed to shed some light on this unique entity and its neuropathophysiology. Epileptologists should be aware of this type of seizure and careful review of electroencephalograms during the transition from sleep to arousal is imperative to capture these seizures. Physicians, patients and families also need to be aware of such a subtle manifestation of seizures. Improved awareness of hypnopompic seizures and subtle seizures, in general, help guide accurate and early diagnosis, thorough monitoring and appropriate management. PMID:21030341

  12. 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…

  13. Atypical pneumonia

    MedlinePlus

    ... that cause typical pneumonia. These include Legionella pneumophila , Mycoplasma pneumoniae , and Chlamydophila pneumoniae . Atypical pneumonia also tends to have milder symptoms than typical pneumonia. Causes Mycoplasma pneumonia is a type of atypical pneumonia. It ...

  14. Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?

    PubMed

    van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J

    2014-12-01

    While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex differences in the prevalence or expression of atypical absence epilepsy syndromes. Surprisingly, most studies of animal models of absence epilepsy either did not investigate sex differences, or failed to find sex-dependent effects. However, various rodent models for atypical syndromes such as the AY9944 model (prepubertal females show a higher incidence than prepubertal males), BN model (also with a higher prevalence in males) and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved in sex differences. Although the mechanistic bases for the sex differences in humans or these three models are not yet known, studies of the effects of sex hormones on seizures have offered some possibilities. The sex hormones progesterone, estradiol and testosterone exert diametrically opposite effects in genetic absence epilepsy and pharmacologically-evoked convulsive types of epilepsy models. In addition, acute pharmacological effects of progesterone on absence seizures during proestrus are opposite to those seen during pregnancy. 17β-Estradiol has anti-absence seizure effects, but it is only active in atypical absence models. It is speculated that the pro-absence action of progesterone, and perhaps also the delayed pro-absence action of testosterone, are mediated through the neurosteroid allopregnanolone and its structural and functional homolog, androstanediol. These two steroids increase extrasynaptic thalamic tonic GABAergic

  15. Animal models of absence epilepsies: What do they model and do sex and sex hormones matter?

    PubMed Central

    van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J.

    2014-01-01

    While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex differences in the prevalence or expression of atypical absence epilepsy syndromes. Surprisingly, most studies of animal models of absence epilepsy either did not investigate sex differences, or failed to find sex-dependent effects. However, various rodent models for atypical syndromes such as the AY9944 model (prepubertal females show a higher incidence than prepubertal males), BN model also with a higher prevalence in males and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved in sex differences. Although the mechanistic bases for the sex differences in humans or these three models are not yet known, studies of the effects of sex hormones on seizures have offered some possibilities. The sex hormones progesterone, estradiol and testosterone exert diametrically opposite effects in genetic absence epilepsy and pharmacologically-evoked convulsive types of epilepsy models. In addition, acute pharmacological effects of progesterone on absence seizures during proestrus are opposite to those seen during pregnancy. 17β-Estradiol has anti-absence seizure effects, but it is only active in atypical absence models. It is speculated that the pro-absence action of progesterone, and perhaps also the delayed pro-absence action of testosterone, are mediated through the neurosteroid allopregnanolone and its structural and functional homolog, androstanediol. These two steroids increase extrasynaptic thalamic tonic GABAergic inhibition

  16. Generalized tonic-clonic seizure

    MedlinePlus

    ... Seizure - grand mal; Grand mal seizure; Seizure - generalized; Epilepsy - generalized seizure ... occur as part of a repeated, chronic illness (epilepsy). Some seizures are due to psychological problems (psychogenic).

  17. Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature.

    PubMed

    Albini, Mariarita; Morano, Alessandra; Fanella, Martina; Lapenta, Leonardo; Casciato, Sara; Fattouch, Jinane; Manfredi, Mario; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2016-04-01

    Rufinamide (RFD) is a novel drug that was recently approved as an adjunctive treatment for Lennox-Gastaut syndrome. Despite its reported effectiveness in generalized seizures (tonic, atonic, or tonic-clonic) in this syndrome, few data on its use in idiopathic generalized epilepsy are available. Indeed, the scientific evidence to date is limited to anecdotal cases or isolated clinical experiences. We report an uncommon, though paradigmatic, case of a woman affected by juvenile absence epilepsy (JAE) who, following a prolonged seizure-freedom period and the consequent withdrawal of valproate, presented a seizure relapse accompanied by a worsening in her electroclinical pattern. In view of this atypical evolution of JAE, characterized by drug-resistant seizures (absence and generalized tonic-clonic) and the progressive increase in electroencephalographic (EEG) abnormalities, several antiepileptic drugs were used, though to no benefit. The use of RFD instead led to a gradual control of the seizures and normalization of the EEG findings. In addition to this clinical experience, we briefly review the literature on the use of RFD in refractory generalized epilepsy. PMID:25420625

  18. Partial (focal) seizure

    MedlinePlus

    ... Jacksonian seizure; Seizure - partial (focal); Temporal lobe seizure; Epilepsy - partial seizures ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff ... Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 101. ...

  19. Partial (focal) seizure

    MedlinePlus

    ... Jacksonian seizure; Seizure - partial (focal); Temporal lobe seizure; Epilepsy - partial seizures ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff RB, ... 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 67. ...

  20. Audiogenic reflex seizures in cats

    PubMed Central

    Lowrie, Mark; Bessant, Claire; Harvey, Robert J; Sparkes, Andrew; Garosi, Laurent

    2015-01-01

    Objectives This study aimed to characterise feline audiogenic reflex seizures (FARS). Methods An online questionnaire was developed to capture information from owners with cats suffering from FARS. This was collated with the medical records from the primary veterinarian. Ninety-six cats were included. Results Myoclonic seizures were one of the cardinal signs of this syndrome (90/96), frequently occurring prior to generalised tonic–clonic seizures (GTCSs) in this population. Other features include a late onset (median 15 years) and absence seizures (6/96), with most seizures triggered by high-frequency sounds amid occasional spontaneous seizures (up to 20%). Half the population (48/96) had hearing impairment or were deaf. One-third of cats (35/96) had concurrent diseases, most likely reflecting the age distribution. Birmans were strongly represented (30/96). Levetiracetam gave good seizure control. The course of the epilepsy was non-progressive in the majority (68/96), with an improvement over time in some (23/96). Only 33/96 and 11/90 owners, respectively, felt the GTCSs and myoclonic seizures affected their cat’s quality of life (QoL). Despite this, many owners (50/96) reported a slow decline in their cat’s health, becoming less responsive (43/50), not jumping (41/50), becoming uncoordinated or weak in the pelvic limbs (24/50) and exhibiting dramatic weight loss (39/50). These signs were exclusively reported in cats experiencing seizures for >2 years, with 42/50 owners stating these signs affected their cat’s QoL. Conclusions and relevance In gathering data on audiogenic seizures in cats, we have identified a new epilepsy syndrome named FARS with a geriatric onset. Further studies are warranted to investigate potential genetic predispositions to this condition. PMID:25916687

  1. Seizures of idiopathic generalized epilepsies.

    PubMed

    Durón, Reyna M; Medina, Marco T; Martínez-Juárez, Iris E; Bailey, Julia N; Perez-Gosiengfiao, Katerina Tanya; Ramos-Ramírez, Ricardo; López-Ruiz, Minerva; Alonso, María Elisa; Ortega, Ramón H Castro; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesús; Mija, Lizardo; Delgado-Escueta, Antonio V

    2005-01-01

    Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database. Generalized seizures occur with different and similar semiologies, frequencies, and patterns, ages at onset, and outcomes in different IGEs, suggesting common neuroanatomical pathways for seizure phenotypes. However, the same seizure phenotypes respond differently to the same treatments in different IGEs, suggesting different molecular defects across syndromes. De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood. Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology. PMID:16302874

  2. Controlling Seizures

    ERIC Educational Resources Information Center

    Henderson, Nancy

    2008-01-01

    This article describes how an implantable device could greatly improve the quality of life for people with epilepsy. Gabe Anderson was diagnosed with bilateral heterotopia, a congenital condition that can lead to the onset of complex partial seizures stemming from both hemispheres of the brain. In early 2004, Gabe became one of the first 35…

  3. Febrile seizures

    PubMed Central

    2014-01-01

    Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination. PMID:25324864

  4. Antidepressants but not antipsychotics have antiepileptogenic effects with limited effects on comorbid depressive-like behaviour in the WAG/Rij rat model of absence epilepsy

    PubMed Central

    Citraro, Rita; Leo, Antonio; De Fazio, Pasquale; De Sarro, Giovambattista; Russo, Emilio

    2015-01-01

    Background and Purpose Two of the most relevant unmet needs in epilepsy are represented by the development of disease-modifying drugs able to affect epileptogenesis and/or the study of related neuropsychiatric comorbidities. No systematic study has investigated the effects of chronic treatment with antipsychotics or antidepressants on epileptogenesis. However, such drugs are known to influence seizure threshold. Experimental Approach We evaluated the effects of an early long-term treatment (ELTT; 17 weeks), started before seizure onset (P45), with fluoxetine (selective 5-HT-reuptake inhibitor), duloxetine (dual-acting 5-HT-noradrenaline reuptake inhibitor), haloperidol (typical antipsychotic drug), risperidone and quetiapine (atypical antipsychotic drugs) on the development of absence seizures and comorbid depressive-like behaviour in the WAG/Rij rat model. Furthermore, we studied the effects of these drugs on established absence seizures in adult (6-month-old) rats after a chronic 7 weeks treatment. Key Results ELTT with all antipsychotics did not affect the development of seizures, whereas, both ELTT haloperidol (1 mg·kg−1 day−1) and risperidone (0.5 mg·kg−1 day−1) increased immobility time in the forced swimming test and increased absence seizures only in adult rats (7 weeks treatment). In contrast, both fluoxetine (30 mg·kg−1 day−1) and duloxetine (10–30 mg·kg−1 day−1) exhibited clear antiepileptogenic effects. Duloxetine decreased and fluoxetine increased absence seizures in adult rats. Duloxetine did not affect immobility time; fluoxetine 30 mg·kg−1 day−1 reduced immobility time while at 10 mg·kg−1 day−1 an increase was observed. Conclusions and Implications In this animal model, antipsychotics had no antiepileptogenic effects and might worsen depressive-like comorbidity, while antidepressants have potential antiepileptogenic effects even though they have limited effects on comorbid depressive-like behaviour. PMID

  5. Seizure Disorders in Pregnancy

    MedlinePlus

    ... Seizures that cause a loss of consciousness and violent, jerking movements, called grand mal seizures , are especially ... of seizure that causes loss of consciousness and violent, jerking movements. Intrauterine Device: A small device that ...

  6. Orgasm-induced seizures: male studied with ictal electroencephalography.

    PubMed

    Sengupta, Anshuman; Mahmoud, Ali; Tun, Shwe Z; Goulding, Peter

    2010-06-01

    Reflex seizures can occur in response to a variety of stimuli, both sensory and emotional. Common triggers include light and music; however, in a growing number of case reports, the phenomenon of sexual activity triggering epileptic seizures is described. The majority of these case reports have been in women so far, and most have been found to localise to the right cerebral hemisphere on interictal electroencephalography (EEG). We report the case of a 34-year-old male with orgasm-induced seizures, recorded on ictal EEG. This gentleman's electrophysiology localised his seizure focus to the left cerebral hemisphere, making his case atypical in comparison with the majority of previous reports. Orgasm-induced seizures are an increasingly well-described phenomenon and we suggest that this should be taken into account when assessing patients with possible reflex seizures. PMID:20471288

  7. Seizures and Teens: Stress, Sleep, & Seizures

    ERIC Educational Resources Information Center

    Shafer, Patricia Osborne

    2007-01-01

    Most parents are used to erratic sleep patterns and mood swings in their teenagers. When these occur in an adolescent with seizures, however, the parent may wonder if sleep and mood problems are related to seizures. Sorting out the cause and effects of sleep in an adolescent with seizures can be confusing. Since stress can be a contributor to both…

  8. Positron emission tomography in generalized seizures

    SciTech Connect

    Theodore, W.H.; Brooks, R.; Margolin, R.; Patronas, N.; Sato, S.; Porter, R.J.; Mansi, L.; Bairamian, D.; DiChiro, G.

    1985-05-01

    The authors used /sup 18/F-fluorodeoxyglucose (FDG) positron emission tomography (PET) to study nine patients with clinical absence or generalized seizures. One patient had only absence seizures, two had only generalized tonic-clonic seizures, and six had both seizure types. Interictal scans in eight failed to reveal focal or lateralized hypometabolism. No apparent abnormalities were noted. Two patients had PET scans after isotope injection during hyperventilation-induced generalized spike-wave discharges. Diffusely increased metabolic rates were found in one compared with an interictal scan, and in another compared with control values. Another patient had FDG injected during absence status: EEG showed generalized spike-wave discharges (during which she was unresponsive) intermixed with slow activity accompanied by confusion. Metabolic rates were decreased, compared with the interictal scan, throughout both cortical and subcortical structures. Interictal PET did not detect specific anatomic regions responsible for absence seizure onset in any patient, but the results of the ictal scans did suggest that pathophysiologic differences exist between absence status and single absence attacks.

  9. Enhanced tonic GABAA inhibition in typical absence epilepsy

    PubMed Central

    Cope, David W.; Di Giovanni, Giuseppe; Fyson, Sarah J.; Orbán, Gergely; Errington, Adam C.; Lőrincz, Magor L.; Gould, Timothy M.; Carter, David A.; Crunelli, Vincenzo

    2010-01-01

    The cellular mechanisms underlying typical absence seizures, which characterize various idiopathic generalized epilepsies, are not fully understood, but impaired GABAergic inhibition remains an attractive hypothesis. In contrast, we show here that extrasynaptic GABAA receptor–dependent ‘tonic’ inhibition is increased in thalamocortical neurons from diverse genetic and pharmacological models of absence seizures. Increased tonic inhibition is due to compromised GABA uptake by the GABA transporter GAT–1 in the genetic models tested, and GAT–1 is critical in governing seizure genesis. Extrasynaptic GABAA receptors are a requirement for seizures in two of the best characterized models of absence epilepsy, and the selective activation of thalamic extrasynaptic GABAA receptors is sufficient to elicit both electrographic and behavioural correlates of seizures in normal animals. These results identify an apparently common cellular pathology in typical absence seizures that may have epileptogenic significance, and highlight novel therapeutic targets for the treatment of absence epilepsy. PMID:19966779

  10. Oxaliplatin-Induced Tonic-Clonic Seizures

    PubMed Central

    Rahal, Ahmad K.; Truong, Phu V.; Kallail, K. James

    2015-01-01

    Oxaliplatin is a common chemotherapy drug used for colon and gastric cancers. Common side effects are peripheral neuropathy, hematological toxicity, and allergic reactions. A rare side effect is seizures which are usually associated with posterior reversible leukoencephalopathy syndrome (PRES). A 50-year-old male patient presented with severe abdominal pain. CT scan of the abdomen showed acute appendicitis. Appendectomy was done and pathology showed mixed adenoneuroendocrine carcinoma. Adjuvant chemotherapy was started with Folinic acid, Fluorouracil, and Oxaliplatin (FOLFOX). During the third cycle of FOLFOX, the patient developed tonic-clonic seizures. Laboratory workup was within normal limits. EEG and MRI of the brain showed no acute abnormality. The patient was rechallenged with FOLFOX but he had tonic-clonic seizures for the second time. His chemotherapy regimen was switched to Folinic acid, Fluorouracil, and Irinotecan (FOLFIRI). After 5 cycles of FOLFIRI, the patient did not develop any seizures, making Oxaliplatin the most likely culprit for his seizures. Oxaliplatin-induced seizures rarely occur in the absence of PRES. One case report has been described in the literature. We present a rare case of tonic-clonic seizures in a patient receiving Oxaliplatin in the absence of PRES. PMID:26491586

  11. Atypical Inflammasomes.

    PubMed

    Janowski, Ann M; Sutterwala, Fayyaz S

    2016-01-01

    Pattern recognition receptors, including members of the NLR and PYHIN families, are essential for recognition of both pathogen- and host-derived danger signals. A number of molecules in these families are capable of forming multiprotein complexes termed inflammasomes that result in the activation of caspase-1. In addition to NLRP1, NLRP3, NLRC4, and AIM2, which form well-described inflammasome complexes, IFI16, NLRP6, NLRP7, NLRP12, and NLRC5 have also been proposed to form inflammasomes under specific conditions. The structure and function of these atypical inflammasomes will be highlighted here. PMID:27221480

  12. Psychogenic seizures in brain injury: diagnosis, treatment and case study.

    PubMed

    Conder, R L; Zasler, N D

    1990-01-01

    Psychogenic seizures are a functional phenomena in which a person experiences a paroxysmal event that may be interpreted as epileptiform in nature. By definition, psychogenic seizures imply a sudden episode of change in behaviour or psychic state that is not associated with an identifiable process, either vasculogenic or neurogenic, and during which there is an absence of characteristic epileptiform changes on the electroencephalogram. Prevalence rates range from 5% to 50% in outpatient populations seen in epilepsy clinics. However, approximately 20% of true seizure patients also have psychogenic seizures. As psychogenic seizures are not a pathophysiological phenomena, pharmacological interventions do not alter their aetiology and can cloud the cognitive skills necessary to ameliorate the psychogenic seizure behaviour. In non-aphasic true seizure patients, as well as psychogenic seizure patients, self-control relaxation paradigms have been successful where pharmacological intervention has failed. This case involved an aphasic brain-injured patient who had both psychogenic and true seizures. For this patient, the self-control paradigm was modified to include use of gesture and prosody to achieve similar psychotherapeutic effects. Additionally, family therapy was instituted to provide a constructive means for the patient's family to participate in the reduction of psychogenic seizures. As seizures are a common sequelae of brain injury, the differential diagnosis of seizures and knowledge of standard and alternative treatment is essential for rehabilitation professionals. PMID:1701326

  13. Nocturnal seizure and simultaneous bilateral shoulder fracture-dislocation.

    PubMed

    Sahbudin, Ilfita; Filer, Andrew

    2016-01-01

    An otherwise fit and well 27-year-old man presented with acute onset unexplained bilateral shoulder pain, and was found to have bilateral shoulder fractures and dislocations on imaging. Although features were atypical, a nocturnal seizure causing the bilateral shoulder fractures was suspected and EEG showed features compatible with epilepsy. PMID:26838296

  14. Search and Seizure.

    ERIC Educational Resources Information Center

    Murray, Kenneth T.

    This paper examines the practice of search and seizure from a legal perspective. All issues concerning lawful or unlawful search and seizure, whether in a public school or otherwise, are predicated upon the Fourth Amendment to the United States Constitution. The terms "search,""seizure,""probable cause,""reasonable suspicion," and "exclusionary…

  15. Atypical neuroleptic malignant syndrome.

    PubMed

    Collins, Ann; Davies, Drew; Menon, Sharmila

    2016-01-01

    A 57-year-old man was admitted to a psychiatric ward in a confused state. He had a 30-year history of lately stable schizophrenia and antipsychotic medication had recently been reduced. The clinical picture was characterised by confusion, agitation, autonomic instability, muscle rigidity and elevated creatine kinase. Despite no other identifiable cause, physicians were reluctant to accept a diagnosis of neuroleptic malignant syndrome (NMS) due to the absence of fever. Despite acute renal failure, the patient was repeatedly transferred between medical and psychiatric wards; diagnosis and management were delayed, with potentially catastrophic consequences. NMS is a rare, life-threatening neurological disorder that can present atypically and requires emergency medical rather than psychiatric care. Clinicians must proactively distinguish between medical emergencies (including acute confusional states/delirium) and mental illness. Prompt, accurate diagnosis, management on the appropriate ward and effective teamwork between specialties are essential to improve patient outcomes in this potentially fatal condition. PMID:27298291

  16. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital.

    PubMed

    Shaaya, Elias A; Grocott, Olivia R; Laing, Olivia; Thibert, Ronald L

    2016-07-01

    Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies. PMID:27206232

  17. Atypical language representation in children with intractable temporal lobe epilepsy.

    PubMed

    Maulisova, Alice; Korman, Brandon; Rey, Gustavo; Bernal, Byron; Duchowny, Michael; Niederlova, Marketa; Krsek, Pavel; Novak, Vilem

    2016-05-01

    This study evaluated language organization in children with intractable epilepsy caused by temporal lobe focal cortical dysplasia (FCD) alone or dual pathology (temporal lobe FCD and hippocampal sclerosis, HS). We analyzed clinical, neurological, fMRI, neuropsychological, and histopathologic data in 46 pediatric patients with temporal lobe lesions who underwent excisional epilepsy surgery. The frequency of atypical language representation was similar in both groups, but children with dual pathology were more likely to be left-handed. Atypical receptive language cortex correlated with lower intellectual capacity, verbal abstract conceptualization, receptive language abilities, verbal working memory, and a history of status epilepticus but did not correlate with higher seizure frequency or early seizure onset. Histopathologic substrate had only a minor influence on neuropsychological status. Greater verbal comprehension deficits were noted in children with atypical receptive language representation, a risk factor for cognitive morbidity. PMID:27064828

  18. [Seizures in newborn infant].

    PubMed

    Eskola, Vesa; Jäntti, Ville; Eriksson, Kai

    2010-01-01

    Seizures in newborn infants are common. The may constitute a neurologic emergency or a nonepileptic, harmless symptom. Diagnostics is becoming more specific with current methodologies. Detailed description of seizures and their connection with EEG abnormalities are the diagnostic cornerstones. The treatment has made slow progress, but newer antiepileptic drugs may aid in the treatment of epileptic seizures in newborn infants in the future. For the time being, evidence-based research results for them are lacking, as well as data on long-term effects. Differential diagnosis of seizures has become increasingly important. PMID:21188877

  19. Interstellar A-type methanol masers

    NASA Astrophysics Data System (ADS)

    Zeng, Q.; Lou, G. F.

    1990-02-01

    The formation conditions for A-type methanol masers are discussed. The correlation between A-type masers and external radiation fields is determined, with emphasis on the energy levels of A-type methanol and brightness temperature. Radiative transfer equations and statistical equilibrium are solved using a large velocity gradient model and the escape probability model. It is demonstrated that the 9(2)-10(1)A+ emission in W3(OH) and 7(0)-6(1)A in SgrB2 are masers, as discovered previously. The formation of the first type of masers requires pumping from an external radiation field, while the second type might be excited in the absence of an external radiation field. It is also pointed out that according to calculations there are A-type maser series similar to E-type methanol maser series of J2-J1E.

  20. 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…

  1. Modeling early-onset post-ischemic seizures in aging mice

    PubMed Central

    Wu, Chiping; Wang, Justin; Peng, Jessie; Patel, Nisarg; Huang, Yayi; Gao, Xiaoxing; Aljarallah, Salman; Eubanks, James H; McDonald, Robert; Zhang, Liang

    2016-01-01

    Stroke is the leading cause of seizures and epilepsy in the aged population, with post-stroke seizures being a poor prognostic factor. The pathological processes underlying post-stroke seizures are not well understood and studies of these seizures in aging/aged animals remain scarce. Therefore, our primary objective was to model post-stroke seizures in aging mice (C57 black strain, 16–20 month-old), with a focus on early-onset, convulsive seizures that occur within 24-hours of brain ischemia. We utilized a middle cerebral artery occlusion model and examined seizure activity and brain injury using combined behavioral and electroencephalographic monitoring and histological assessments. Aging mice exhibited vigorous convulsive seizures within hours of the middle cerebral artery occlusion. These seizures manifested with jumping, rapid running, barrel-rolling and/or falling all in the absence of hippocampal-cortical electrographic discharges. Seizure development was closely associated with severe brain injury and acute mortality. Anticonvulsive treatments after seizure occurrence offered temporary seizure control but failed to improve animal survival. A separate cohort of adult mice (6–8 months-old) exhibited analogous early-onset convulsive seizures following the middle cerebral artery occlusion but had better survival outcomes following anticonvulsive treatment. Collectively, our data suggest that early-onset convulsive seizures are a result of severe brain ischemia in aging animals. PMID:25943585

  2. Plasticity-modulated seizure dynamics for seizure termination in realistic neuronal models

    NASA Astrophysics Data System (ADS)

    Koppert, M. M. J.; Kalitzin, S.; Lopes da Silva, F. H.; Viergever, M. A.

    2011-08-01

    In previous studies we showed that autonomous absence seizure generation and termination can be explained by realistic neuronal models eliciting bi-stable dynamics. In these models epileptic seizures are triggered either by external stimuli (reflex epilepsies) or by internal fluctuations. This scenario predicts exponential distributions of the duration of the seizures and of the inter-ictal intervals. These predictions were validated in rat models of absence epilepsy, as well as in a few human cases. Nonetheless, deviations from the predictions with respect to seizure duration distributions remained unexplained. The objective of the present work is to implement a simple but realistic computational model of a neuronal network including synaptic plasticity and ionic current dynamics and to explore the dynamics of the model with special emphasis on the distributions of seizure and inter-ictal period durations. We use as a basis our lumped model of cortical neuronal circuits. Here we introduce 'activity dependent' parameters, namely post-synaptic voltage-dependent plasticity, as well as a voltage-dependent hyperpolarization-activated current driven by slow and fast activation conductances. We examine the distributions of the durations of the seizure-like model activity and the normal activity, described respectively by the limit cycle and the steady state in the dynamics. We use a parametric γ-distribution fit as a quantifier. Our results show that autonomous, activity-dependent membrane processes can account for experimentally obtained statistical distributions of seizure durations, which were not explainable using the previous model. The activity-dependent membrane processes that display the strongest effect in accounting for these distributions are the hyperpolarization-dependent cationic (Ih) current and the GABAa plastic dynamics. Plastic synapses (NMDA-type) in the interneuron population show only a minor effect. The inter-ictal statistics retain their

  3. Improving Early Seizure Detection

    PubMed Central

    Jouny, Christophe C.; Franaszczuk, Piotr J.; Bergey, Gregory K.

    2011-01-01

    Over the last decade, the search for a method able to reliably predict seizures hours in advance has been largely replaced by a more realistic goal of very early detection of seizure onset which would allow therapeutic or warning devices to be triggered prior to the onset of disabling clinical symptoms. We explore in this article the steps along the pathway from data acquisition to closed loop applications that can and should be considered to design the most efficient early seizure detection. Microelectrodes, high-frequency oscillations, high sampling rate, high-density arrays, and modern analysis techniques are all elements of the recording and detection process that in combination with modeling studies can provide new insights into the dynamics of seizure onsets. Each of these step needs to be considered if one wants to implement improved detection devices that will favorably impact the quality of life of patients. PMID:22078518

  4. Reflex operculoinsular seizures.

    PubMed

    Xiao, Handsun; Tran, Thi Phuoc Yen; Pétrin, Myriam; Boucher, Olivier; Mohamed, Ismail; Bouthillier, Alain; Nguyen, Dang Khoa

    2016-03-01

    Activation of specific cortical territories by certain stimuli is known to trigger focal seizures. We report three cases of well documented operculo-insular reflex seizures, triggered by somatosensory stimuli in two and loud noises in the third. Limited operculoinsular resection resulted in an excellent outcome for all. We discuss these observations in regard to the literature on reflex epilepsy and known functions of the insula. [Published with video sequences online]. PMID:26892245

  5. Fibromyalgia and seizures.

    PubMed

    Tatum, William O; Langston, Michael E; Acton, Emily K

    2016-06-01

    The purpose of this case-matched study was to determine how frequently fibromyalgia is associated with different paroxysmal neurological disorders and explore the utility of fibromyalgia as a predictor for the diagnosis of psychogenic non-epileptic seizures. The billing diagnosis codes of 1,730 new, non-selected patient encounters were reviewed over a three-year period for an epileptologist in a neurology clinic to identify all patients with historical diagnoses of fibromyalgia. The frequency with which epileptic seizures, psychogenic non-epileptic seizures, and physiological non-epileptic events were comorbid with fibromyalgia was assessed. Age and gender case-matched controls were used for a between-group comparison. Wilcoxon tests were used to analyse interval data, and Chi-square was used to analyse categorical data (p<0.05). Fibromyalgia was retrospectively identified in 95/1,730 (5.5%) patients in this cohort. Females represented 95% of the fibromyalgia sample (age: 53 years; 95% CI: 57, 51). Forty-three percent of those with fibromyalgia had a non-paroxysmal, neurological primary clinical diagnosis, most commonly chronic pain. Paroxysmal events were present in 57% of fibromyalgia patients and 54% of case-matched controls. Among patients with fibromyalgia and paroxysmal disorders, 11% had epileptic seizures, 74% had psychogenic non-epileptic seizures, and 15% had physiological non-epileptic events, compared to case-matched controls with 37% epileptic seizures, 51% psychogenic non-epileptic events, and 12% physiological non-epileptic events (p = 0.009). Fibromyalgia was shown to be a predictor for the diagnosis of psychogenic non-epileptic seizures in patients with undifferentiated paroxysmal spells. However, our results suggest that the specificity and sensitivity of fibromyalgia as a marker for psychogenic non-epileptic seizures in a mixed general neurological population of patients is less than previously described. PMID:27238051

  6. The Impact of Psychoactive Drugs on Seizures and Antiepileptic Drugs.

    PubMed

    Habibi, Mitra; Hart, Felecia; Bainbridge, Jacquelyn

    2016-08-01

    Psychiatric comorbidities are very common in patients with epilepsy, and in fact, a bidirectional relationship between epilepsy and some psychiatric disorders have been identified. However, despite their high prevalence, these comorbidities are not routinely recognized or adequately treated causing a significant burden for these patients. Atypical presentations of some of these psychiatric comorbidities in epilepsy, the concern that some psychotropic drugs may lower seizure threshold worsening frequency of seizures, possibility of many drug-drug interactions, and the negative impact of some antiepileptic drugs on psychiatric conditions are some of the challenges faced by clinicians. Although the main focus in epilepsy has remained on treatment of seizures, acknowledgment of these comorbidities and their timely diagnosis and appropriate treatment not only can impact patients' quality of life but also may improve their response to antiepileptic therapies. PMID:27315249

  7. Seizures in Alzheimer's disease.

    PubMed

    Born, H A

    2015-02-12

    Alzheimer's disease (AD) increases the risk for late-onset seizures and neuronal network abnormalities. An elevated co-occurrence of AD and seizures has been established in the more prevalent sporadic form of AD. Recent evidence suggests that nonconvulsive network abnormalities, including seizures and other electroencephalographic abnormalities, may be more commonly found in patients than previously thought. Patients with familial AD are at an even greater risk for seizures, which have been found in patients with mutations in PSEN1, PSEN2, or APP, as well as with APP duplication. This review also provides an overview of seizure and electroencephalography studies in AD mouse models. The amyloid-β (Aβ) peptide has been identified as a possible link between AD and seizures, and while Aβ is known to affect neuronal activity, the full-length amyloid precursor protein (APP) and other APP cleavage products may be important for the development and maintenance of cortical network hyperexcitability. Nonconvulsive epileptiform activity, such as seizures or network abnormalities that are shorter in duration but may occur with higher frequency, may contribute to cognitive impairments characteristic of AD, such as amnestic wandering. Finally, the review discusses recent studies using antiepileptic drugs to rescue cognitive deficits in AD mouse models and human patients. Understanding the mechanistic link between epileptiform activity and AD is a research area of growing interest. Further understanding of the connection between neuronal hyperexcitability and Alzheimer's as well as the potential role of epileptiform activity in the progression of AD will be beneficial for improving treatment strategies. PMID:25484360

  8. Seizure in a nonpredisposed individual induced by single-pulse transcranial magnetic stimulation.

    PubMed

    Kratz, Oliver; Studer, Petra; Barth, Wolfgang; Wangler, Susanne; Hoegl, Thomas; Heinrich, Hartmut; Moll, Gunther H

    2011-03-01

    Seizure induction is a rare, but serious adverse effect of the otherwise very safe method of transcranial magnetic stimulation (TMS). There are only very few single case reports concerning seizure in single-pulse TMS. All of these reports describe individuals with neurological disorders or epileptogenic medication. To our knowledge, we are the first to describe a healthy subject who developed symptoms of a seizure after single-pulse TMS during motor threshold estimation. This case report provides evidence that single-pulse TMS may provoke a seizure even in the absence of neurological risk factors. Differential diagnoses of a classic neurological seizure, that is, convulsive syncope and psychogenic seizure, are discussed. Neurogenic seizure after TMS and convulsive syncope are the most probable hypotheses, although clear specification of this singular incident remains impossible. Therefore, to minimize the risk for such rare adverse effects, existing and new suggestions are combined to provide reasonable precautions to be taken before and during TMS application. PMID:20351571

  9. Seizures and Teens: Sorting Out Seizures--Part Two

    ERIC Educational Resources Information Center

    Devinsky, Orrin

    2006-01-01

    In adolescents, diagnosing seizures can be challenging and can lead to many pitfalls. Because seizures are episodic and unpredictable events, they usually do not occur in the doctor's office. Thus, a diagnosis of epilepsy is usually based on information presented by the person with seizures and their family. Together with results of diagnostic…

  10. Progress in searching for the febrile seizure susceptibility genes.

    PubMed

    Nakayama, Junko

    2009-05-01

    Febrile seizures (FS) represent the most common form of childhood seizures. They affect 2-5% of infants in the Caucasian population and are even more common in the Japanese population, affecting 6-9% of infants. Some familial FS are associated with a wide variety of afebrile seizures. Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS, atypical FS (FS+) and afebrile seizures. A significant genetic component exists for susceptibility to FS and GEFS+: extensive genetic studies have shown that at least nine loci are responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+. However, the causative genes have not been identified in most patients with FS or GEFS+. Common forms of FS are genetically complex disorders believed to be influenced by variations in several susceptibility genes. Recently, several association studies on FS have been reported, but the results vary among different groups and no consistent or convincing FS susceptibility gene has emerged. Herein, we review the genetic data reported in FS, including the linkage analysis, association studies, and genetic abnormalities found in the FS-related disorders such as GEFS+ and severe myoclonic epilepsy in infancy. PMID:19201561

  11. Teaching about Search and Seizure.

    ERIC Educational Resources Information Center

    Kelly, Cynthia A.

    1978-01-01

    Presents a six-step model to help teachers develop curriculum related to the Fourth Amendment (search and seizure). The model focuses on determining values and attitudes, defining valid and unreasonable search and seizure, recognizing a valid warrant, and using film to teach about search and seizure. Journal available from the American Bar…

  12. Seizure Prediction: Methods

    PubMed Central

    Carney, Paul R.; Myers, Stephen; Geyer, James D.

    2011-01-01

    Epilepsy, one of the most common neurological diseases, affects over 50 million people worldwide. Epilepsy can have a broad spectrum of debilitating medical and social consequences. Although antiepileptic drugs have helped treat millions of patients, roughly a third of all patients have seizures that are refractory to pharmacological intervention. The evolution of our understanding of this dynamic disease leads to new treatment possibilities. There is great interest in the development of devices that incorporate algorithms capable of detecting early onset of seizures or even predicting them hours before they occur. The lead time provided by these new technologies will allow for new types of interventional treatment. In the near future, seizures may be detected and aborted before physical manifestations begin. In this chapter we discuss the algorithms that make these devices possible and how they have been implemented to date. We also compare and contrast these measures, and review their individual strengths and weaknesses. Finally, we illustrate how these techniques can be combined in a closed-loop seizure prevention system. PMID:22078526

  13. Atypical autoerotic deaths

    SciTech Connect

    Gowitt, G.T.; Hanzlick, R.L. )

    1992-06-01

    So-called typical' autoerotic fatalities are the result of asphyxia due to mechanical compression of the neck, chest, or abdomen, whereas atypical' autoeroticism involves sexual self-stimulation by other means. The authors present five atypical autoerotic fatalities that involved the use of dichlorodifluoromethane, nitrous oxide, isobutyl nitrite, cocaine, or compounds containing 1-1-1-trichloroethane. Mechanisms of death are discussed in each case and the pertinent literature is reviewed.

  14. Nonepileptic seizures: an updated review.

    PubMed

    Perez, David L; LaFrance, W Curt

    2016-06-01

    Psychogenic nonepileptic seizures (PNES) are a functional neurological disorder/conversion disorder subtype, which are neurobehavioral conditions at the interface of neurology and psychiatry. Significant advancements over the past decade have been made in the diagnosis, management, and neurobiological understanding of PNES. This article reviews published PNES research focusing on semiologic features that distinguish PNES from epileptic seizures, consensus diagnostic criteria, the intersection of PNES and other comorbidities, neurobiological studies, evidence-based treatment interventions, and outcome studies. Epidemiology and healthcare utilization studies highlight a continued unmet medical need in the comprehensive care of PNES. Consensus guidelines for diagnostic certainty are based on clinical history, semiology of witnessed typical event(s), and EEG findings. While certain semiologic features may aid in the diagnosis of PNES, the gold standard remains capturing a typical event on video electroencephalography (EEG) showing the absence of epileptiform activity with history and semiology consistent with PNES. Medical-neurologic and psychiatric comorbidities are prevalent in PNES; these should be assessed in diagnostic evaluations and integrated into treatment interventions and prognostic considerations. Several studies, including a pilot, multicenter, randomized clinical trial, have now demonstrated that a cognitive behavioral therapy-informed psychotherapy is an efficacious treatment for PNES, and additional efforts are necessary to evaluate the utility of pharmacologic and other psychotherapy treatments. Neuroimaging studies, while requiring replication, suggest that PNES may occur in the context of alterations within and across sensorimotor, emotion regulation/processing, cognitive control, and multimodal integration brain systems. Future research could investigate similarities and differences between PNES and other somatic symptom disorders. PMID:26996600

  15. Seizure prediction and its applications.

    PubMed

    Iasemidis, Leon D

    2011-10-01

    Epilepsy is characterized by intermittent, paroxysmal, hypersynchronous electrical activity that may remain localized and/or spread and severely disrupt the brain's normal multitask and multiprocessing function. Epileptic seizures are the hallmarks of such activity. The ability to issue warnings in real time of impending seizures may lead to novel diagnostic tools and treatments for epilepsy. Applications may range from a warning to the patient to avert seizure-associated injuries, to automatic timely administration of an appropriate stimulus. Seizure prediction could become an integral part of the treatment of epilepsy through neuromodulation, especially in the new generation of closed-loop seizure control systems. PMID:21939848

  16. Musicogenic seizures in Dravet syndrome.

    PubMed

    Sanchez-Carpintero, Rocio; Patiño-Garcia, Ana; Urrestarazu, Elena

    2013-07-01

    Dravet syndrome is an epileptic encephalopathy characterized by multiple types of seizures. We report the first case of musicogenic reflex seizures in a 7-year-old male with a mutation in the SCN1A gene causing Dravet syndrome. Reflex seizures have been reported in patients with Dravet syndrome provoked by body temperature elevation, looking at visual patterns, or under intermittent photic stimulation. The case we report widens the spectrum of reflex seizures recorded in patients with Dravet syndrome. Cortical hyperexcitability of genetic origin could explain the tendency of these patients to experience reflex seizures. PMID:23517304

  17. Atypical presentation of atypical mycobacteria in atypical diabetes

    PubMed Central

    Biswas, Sugata Narayan; Chakraborty, Partha Pratim; Satpathi, Partha Sarathi; Patra, Shinjan

    2016-01-01

    A 45-year-old, non-obese male presented with low-grade, remittent fever and a fluctuant swelling over the posterior aspect of his lower left flank. Laboratory tests revealed leukocytosis, raised ESR, hyperglycemia and raised HbA1C levels. Light microscopy of Ziehl–Neelsen-stained pus sample revealed numerous acid-fast bacilli. After 72 h of incubating aspirated pus in Löwenstein–Jensen media, non-pigmented, cream-colored colonies were observed, suggestive of rapid-growing atypical forms of mycobacteria. Polymerase chain reaction of isolated bacteria identified Mycobacterium chelonae as causative organism. Abdominal skiagram revealed extensive pancreatic intraductal calcifications suggestive of fibrocalculous pancreatic diabetes and lumbar vertebral body destruction with evidence of paravertebral abscess. The patient was prescribed a split-mixed insulin regimen, clarithromycin and ciprofloxacin with complete resolution of the subcutaneous abscess at 6 months. Diabetic patients are prone to infections. Mycobacteria, especially atypical ones, involving the spine and subcutaneous tissues have rarely been reported. PMID:27127641

  18. A targeted mutation in Cacng4 exacerbates spike-wave seizures in stargazer (Cacng2) mice

    PubMed Central

    Letts, Verity A.; Mahaffey, Connie L.; Beyer, Barbara; Frankel, Wayne N.

    2005-01-01

    The voltage-dependent calcium channel γ4 subunit protein, CACNG4, is closely related to the γ2 subunit, CACNG2. Both are expressed primarily in the brain and share 53% amino acid identity. The Cacng2 gene is disrupted in the stargazer mouse, with its distinctive phenotype including ataxia, frequent absence seizure episodes, and head elevation. A disruption within Cacng4 was engineered to assess its particular function. The homozygous Cacng4-targeted mutant mouse appeared normal with no ataxic gait or absence seizures, suggesting that other members of the γ subunit family might functionally compensate for the absence of CACNG4. To test this hypothesis, the targeted Cacng4 mutation was combined with alleles of Cacng2. Absence seizures were observed in combination with the stargazer 3J mutation, which itself does not have seizures, and increased seizure activity was observed in combination with the waggler allele. Furthermore, within the corticothalamic loop, where absence seizures arise, CACNG4 expression is restricted to the thalamus. Our studies show that the CACNG4 protein has seizure suppressing activity, but this effect is revealed only when CACNG2 expression is also compromised, suggesting that CACNG subunits have in vivo overlapping functions. PMID:15677329

  19. Evaluation of Bax and Bcl-2 Proteins Expression in the Rat Hippocampus due to Childhood Febrile Seizure

    PubMed Central

    SAEEDI BORUJENI, Mohammad Javad; HAMI, Javad; HAGHIR, Hossein; RASTIN, Maryam; SAZEGAR, Ghasem

    2016-01-01

    Objective Simple Febrile Seizure (SFS) is the most common seizure disorder in childhood, and is frequently described as inoffensive disorder. Nevertheless, there is evidence suggesting the association between neonatal febrile seizures and hippocampal abnormalities in adulthood. This study was conducted at evaluating the hippocampal expression of pro-apoptotic Bax and anti-apoptotic Bcl-2 proteins following SFS induction in rat neonates. Materials & Methods Febrile seizure was modeled by hyperthermia-induced seizure in 22-dayold male rats by a hot water bath. The animals were divided into two groups based on the presence or absence of seizure behaviors: Hyperthermia without seizure (n=10) and hyperthermia with seizure (n=10). To control the effects of environmental stress a sham-control group was also added (n=10). The rats’ hippocampi were dissected 2 or 15 days after hyperthermia. The expression of Bax and Bcl-2 proteins were measured using Western Blotting technique. Results The hippocampal expression of Bcl-2 protein was significantly lower in the hyperthermia with seizure animals than that of the sham-control and hyperthermia without seizure groups. The expression of pro-apoptotic Bax protein also significantly increased in the hippocampus of hyperthermia with seizure group rats compared to the sham-control and hyperthermia without seizure animals. Conclusion The simple febrile seizure markedly disturbed the hippocampal expression of both Bcl2 and Bax proteins, resulting in apoptosis promotion in hippocampi of juvenile rats, which were measurable for at least 15 days. PMID:27057189

  20. Ion dynamics during seizures

    PubMed Central

    Raimondo, Joseph V.; Burman, Richard J.; Katz, Arieh A.; Akerman, Colin J.

    2015-01-01

    Changes in membrane voltage brought about by ion fluxes through voltage and transmitter-gated channels represent the basis of neural activity. As such, electrochemical gradients across the membrane determine the direction and driving force for the flow of ions and are therefore crucial in setting the properties of synaptic transmission and signal propagation. Ion concentration gradients are established by a variety of mechanisms, including specialized transporter proteins. However, transmembrane gradients can be affected by ionic fluxes through channels during periods of elevated neural activity, which in turn are predicted to influence the properties of on-going synaptic transmission. Such activity-induced changes to ion concentration gradients are a feature of both physiological and pathological neural processes. An epileptic seizure is an example of severely perturbed neural activity, which is accompanied by pronounced changes in intracellular and extracellular ion concentrations. Appreciating the factors that contribute to these ion dynamics is critical if we are to understand how a seizure event evolves and is sustained and terminated by neural tissue. Indeed, this issue is of significant clinical importance as status epilepticus—a type of seizure that does not stop of its own accord—is a life-threatening medical emergency. In this review we explore how the transmembrane concentration gradient of the six major ions (K+, Na+, Cl−, Ca2+, H+and HCO3−) is altered during an epileptic seizure. We will first examine each ion individually, before describing how multiple interacting mechanisms between ions might contribute to concentration changes and whether these act to prolong or terminate epileptic activity. In doing so, we will consider how the availability of experimental techniques has both advanced and restricted our ability to study these phenomena. PMID:26539081

  1. High-Frequency Oscillations and Seizure Generation in Neocortical Epilepsy

    ERIC Educational Resources Information Center

    Worrell, Greg A.; Parish, Landi; Cranstoun, Stephen D.; Jonas, Rachel; Baltuch, Gordon; Litt, Brian

    2004-01-01

    Neocortical seizures are often poorly localized, explosive and widespread at onset, making them poorly amenable to epilepsy surgery in the absence of associated focal brain lesions. We describe, for the first time in an unselected group of patients with neocortical epilepsy, the finding that high-frequency (60--100 Hz) epileptiform oscillations…

  2. Clozapine-Related EEG Changes and Seizures: Dose and Plasma-Level Relationships

    PubMed Central

    Varma, Seema; Bishara, Delia; Besag, Frank M. C.; Taylor, David

    2011-01-01

    Clozapine is a widely used atypical antipsychotic with a unique effectiveness in treatment-resistant schizophrenia. An important adverse effect is seizures, which have been observed at all stages of clozapine treatment. Valproate has traditionally been considered the drug of choice for the prophylaxis of clozapine seizures, however it may not be the most suitable choice for all patients. There is disagreement as to the best point to prescribe valproate or a suitable antiepileptic: as seizure prophylaxis at a certain clozapine dose or level, or only as remedial treatment. In this review, we examine the relevant literature with an aim to evaluate the following relationships: clozapine dose and electroencephalogram (EEG) abnormalities, plasma levels and EEG abnormalities, dose and occurrence of seizures and plasma levels and occurrence of seizures. Weighted linear regression models were fitted to investigate these relationships. There was a strong relationship between clozapine dose and plasma level and occurrence of clozapine-induced EEG abnormalities. However, a statistically significant relationship between dose and occurrence of seizures was not found. A relationship between clozapine plasma level and occurrence of seizures was not established because of the scarcity of useful data although our review found three case reports which suggested that there is a very substantial risk of seizures with clozapine plasma levels exceeding 1300 μg/l. Seizures are more common during the initiation phase of clozapine treatment, suggesting a slow titration to target plasma levels is desirable. An antiepileptic drug should be considered when the clozapine plasma level exceeds 500 μg/l, if the EEG shows clear epileptiform discharges, if seizures, myoclonic jerks or speech difficulties occur and when there is concurrent use of epileptogenic medication. The antiepileptics of choice for the treatment and prophylaxis of clozapine-induced seizures are valproate (particularly where

  3. Atypical Optic Neuritis.

    PubMed

    Gaier, Eric D; Boudreault, Katherine; Rizzo, Joseph F; Falardeau, Julie; Cestari, Dean M

    2015-12-01

    Classic demyelinative optic neuritis is associated with multiple sclerosis and typically carries a good prognosis for visual recovery. This disorder is well characterized with respect to its presentation and clinical features by baseline data obtained through the optic neuritis treatment trial and numerous other studies. Atypical optic neuritis entails clinical manifestations that deviate from this classic pattern of features. Clinical signs and symptoms that deviate from the typical presentation should prompt consideration of less common etiologies. Atypical features to consider include lack of pain, simultaneous or near-simultaneous onset, lack of response to or relapse upon tapering from corticosteroids, or optic nerve head or peripapillary hemorrhages. The most important alternative etiologies to consider and the steps towards their respective diagnostic evaluations are suggested for these atypical features. PMID:26467052

  4. Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome.

    PubMed

    Grande-Martín, Alberto; Pardal-Fernández, José Manuel; Carrascosa-Romero, María Carmen; De Cabo, Carlos

    2016-06-01

    Antiepileptic drugs may occasionally increase seizure frequency or eliciting de novo seizure occurrence; the underlying mechanism of these effects is not known. The potential adverse effects of valproic acid in myoclonic astatic epilepsy have been noted by experienced clinicians in various different regions of the world, but this important observation has not been sufficiently reported. We present the case of tonic status epilepticus in an 8-year-old boy with Doose syndrome related to valproic acid. Valproic acid, such as others antiepileptic drugs, is liable to produce paradoxical effects such as the atypical seizures we report. We emphasize the importance for the management of acute seizures in an intensive care unit setting and increase awareness of the acute toxic effects of antiepileptic drugs. PMID:26979444

  5. Seizure Prediction and its Applications

    PubMed Central

    Iasemidis, Leon D.

    2011-01-01

    Epilepsy is characterized by intermittent, paroxysmal, hypersynchronous electrical activity, that may remain localized and/or spread and severely disrupt the brain’s normal multi-task and multi-processing function. Epileptic seizures are the hallmarks of such activity and had been considered unpredictable. It is only recently that research on the dynamics of seizure generation by analysis of the brain’s electrographic activity (EEG) has shed ample light on the predictability of seizures, and illuminated the way to automatic, prospective, long-term prediction of seizures. The ability to issue warnings in real time of impending seizures (e.g., tens of minutes prior to seizure occurrence in the case of focal epilepsy), may lead to novel diagnostic tools and treatments for epilepsy. Applications may range from a simple warning to the patient, in order to avert seizure-associated injuries, to intervention by automatic timely administration of an appropriate stimulus, for example of a chemical nature like an anti-epileptic drug (AED), electromagnetic nature like vagus nerve stimulation (VNS), deep brain stimulation (DBS), transcranial direct current (TDC) or transcranial magnetic stimulation (TMS), and/or of another nature (e.g., ultrasonic, cryogenic, biofeedback operant conditioning). It is thus expected that seizure prediction could readily become an integral part of the treatment of epilepsy through neuromodulation, especially in the new generation of closed-loop seizure control systems. PMID:21939848

  6. Modern concepts of seizure modeling.

    PubMed

    Bernard, Christophe; Naze, Sebastien; Proix, Timothée; Jirsa, Viktor K

    2014-01-01

    Seizures are complex phenomena spanning multiple spatial and temporal scales, from ion dynamics to communication between brain regions, from milliseconds (spikes) to days (interseizure intervals). Because of the existence of such multiple scales, the experimental evaluation of the mechanisms underlying the initiation, propagation, and termination of epileptic seizures is a difficult problem. Theoretical models and numerical simulations provide new tools to investigate seizure mechanisms at multiple scales. In this chapter, we review different theoretical approaches and their contributions to our understanding of seizure mechanisms. PMID:25078501

  7. Seizures induced by playing music.

    PubMed

    Sutherling, W W; Hershman, L M; Miller, J Q; Lee, S I

    1980-09-01

    A 67-year-old organist and minister with diabetes mellitus had stereotyped focal seizures of the left lower face, jaw, and neck. Attacks occurred spontaneously or were induced when he played a specific hymn on the organ. The seizures were not induced by reading, singing, hearing, or playing the hymn silently. The patient had interictal weakness of the left lower face and left side of the tongue. Focal seizures were recorded on an electroencephalogram (EEG) at the right temporofrontal area. This patient illustrates partial seizures induced by playing music. PMID:6775246

  8. Subacute Sclerosing Panencephalitis in a Child with Recurrent Febrile Seizures

    PubMed Central

    Kartal, Ayşe; Çıtak Kurt, Ayşegül Neşe; Hirfanoğlu, Tuğba; Aydın, Kürşad; Serdaroğlu, Ayşe

    2015-01-01

    Subacute sclerosing panencephalitis (SSPE) is a devastating disease of the central nervous system (CNS) caused by persistent mutant measles virus infection. The diagnosis of SSPE is based on characteristic clinical and EEG findings and demonstration of elevated antibody titres against measles in cerebrospinal fluid. Subacute sclerosing panencephalitis can have atypical clinical features at the onset. Herein, we report an unusual case of subacute sclerosing panencephalitis in a child with recurrent febrile seizures. The disease progressed with an appearance of myoclonic jerks, periodic high amplitude generalized complexes on EEG, and elevated titers of measles antibodies in cerebrospinal fluid leading to the final diagnosis of subacute sclerosing panencephalitis. PMID:25802788

  9. [Seizures caused by subarachnoid haemorrhage in a pregnant woman].

    PubMed

    Shim, Susy; Christiansen, Ulla Birgitte; Sørensen, Anne Nødgaard

    2016-07-25

    This case report describes a pregnant woman of gestational week 37 + 2 days who was admitted to the hospital with first-time seizures. The patient was stabilized, and an acute caesarian section was performed due to the possible aetiology of eclampsia and the advanced gestational age. Because of the atypical clinical history and normal maternal blood samples a computed tomography of the cerebrum was performed demonstrating a subarachnoid haemorrhage. A computed tomography-angiography revealed an aneurism at the anterior communicating artery. The aneurism was coiled the following day to reduce the risk of rebleeding. PMID:27460576

  10. Initial manifestation of type I diabetes mellitus as an unusual cause of early post-operative seizures.

    PubMed

    Benova, Barbora; Krsek, Pavel; Sumnik, Zdenek; Kudr, Martin; Komarek, Vladimir; Tichy, Michal

    2016-06-01

    We present a case of an 18-year-old patient who underwent resective epilepsy surgery for intractable epilepsy caused by focal cortical dysplasia. In the early post-surgical period, the patient started experiencing atypical seizures refractory to antiepileptic treatment. In due course, abnormally low levels of blood sodium and extremely high levels of blood glucose were discovered. Significant hyperglycaemia was initially ascribed to steroid-induced diabetes, and antibodies specific to type I diabetes mellitus were subsequently detected, confirming the diagnosis. Following stabilization of glucose and electrolyte levels, the patient became seizure-free. To our knowledge, this is the first report of presentation of type I diabetes as the cause of early post-operative seizures. We discuss less common aetiologies of seizures in the early post-operative period, including metabolic disturbances. Based on our experience, we stress the importance of electrolyte and glucose monitoring in the setting of acute post-operative seizures. PMID:27267220

  11. Seizures and Teens: The Practical Aspects of Managing Seizure Medications

    ERIC Educational Resources Information Center

    Shafer, Patricia Osborne; Israel, Beth

    2007-01-01

    Medications are the primary treatment for epilepsy, yet many teens and their families have problems managing seizure medicines. Fear of side effects, difficulties remembering to take medicines and figuring out how to take them are common challenges. Unfortunately, not taking medicine as prescribed can lead to breakthrough seizures, which in turn…

  12. Seizures and Teens: Using Technology to Develop Seizure Preparedness

    ERIC Educational Resources Information Center

    Shafer, Patricia O.; Schachter, Steven C.

    2007-01-01

    Most people learn about seizures from their doctors, but others know only what they have seen on television. Unfortunately, visits to doctor's office aren't long enough to learn all that is needed, and often times, doctors and nurses aren't available to teach this information. Seizures are often represented inaccurately and too dramatically on…

  13. Febrile seizures - what to ask your doctor

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000223.htm Febrile seizures - what to ask your doctor To use the ... please enable JavaScript. Your child has had a febrile seizure. A simple febrile seizure stops by itself within ...

  14. [Seizure characteristics in Kawasaki disease].

    PubMed

    Shimakawa, Shuichi; Yamada, Katsuhiko; Hara, Keita; Tanabe, Takuya; Tamai, Hiroshi

    2008-07-01

    It is well known that convulsions may occur in clinical course of Kawasaki disease. However, the features of such seizures remain unclear. Recent reports have hypothesized that proinflammatory cytokines may contribute to the genesis of febrile convulsions (FC). In the acute phase of Kawasaki disease, proinflammatory cytokines are elevated in serum and CSF. If cytokines play a role in seizure phenomena in patients with Kawasaki disease, FC and seizures in Kawasaki disease might share some clinical features. To clarify the clinical features of convulsion in Kawasaki disease, we investigated 7 patients with Kawasaki disease with convulsions who were diagnosed and treated from November 2003 to November 2005. We found several features of the seizures, as well as the onset age, were diffrent among these clinical entities. The onset of Kawasaki disease was characteristically before six months of age in all patients. Seizure clustering was seen in 5 patients and partial seizures in 4. Prolonged unconsciousness after seizures was seen in one patient, syndrome of inappropriate secretion of ADH (SIADH) in one other. One patient had markedly elevated IL-6 in CSF. These observations led us to speculate that the convulsion of Kawasaki disease may be attributable to an encephalitis. The results of this study suggest that seizure pathophysiology differs between FC and Kawasaki disease. PMID:18634413

  15. Recurrent seizures after lidocaine ingestion.

    PubMed

    Aminiahidashti, Hamed; Laali, Abolghasem; Nosrati, Nazanin; Jahani, Fatemeh

    2015-01-01

    Lidocaine has a concentration-dependent effect on seizures. Concentrations above 15 μg/mL frequently result in seizures in laboratory animals and human. We report a case of central nervous system (CNS) lidocaine toxicity and recurrent seizure after erroneous ingestion of lidocaine solution. A 4-year-old boy presented to the Emergency Department of Imam Hospital of Sari in December 2013 due to tonic-clonic generalized seizures approximately 30 min ago. 3 h before seizure, his mother gave him 2 spoons (amount 20-25 cc) lidocaine hydrochloride 2% solution instead of pediatric gripe by mistake. Seizure with generalized tonic-clonic occurred 3 times in home. Neurological examination was essentially unremarkable except for the depressed level of consciousness. Personal and medical history was unremarkable. There was no evidence of intracranial ischemic or hemorrhagic lesions in computed tomography scan. There were no further seizures, the condition of the patient remained stable, and he was discharged 2 days after admission. The use of viscous lidocaine may result in cardiovascular and CNS toxicity, particularly in children. Conservative management is the best option for treatment of lidocaine induced seizure. PMID:25709968

  16. Recurrent seizures after lidocaine ingestion

    PubMed Central

    Aminiahidashti, Hamed; Laali, Abolghasem; Nosrati, Nazanin; Jahani, Fatemeh

    2015-01-01

    Lidocaine has a concentration-dependent effect on seizures. Concentrations above 15 μg/mL frequently result in seizures in laboratory animals and human. We report a case of central nervous system (CNS) lidocaine toxicity and recurrent seizure after erroneous ingestion of lidocaine solution. A 4-year-old boy presented to the Emergency Department of Imam Hospital of Sari in December 2013 due to tonic-clonic generalized seizures approximately 30 min ago. 3 h before seizure, his mother gave him 2 spoons (amount 20–25 cc) lidocaine hydrochloride 2% solution instead of pediatric gripe by mistake. Seizure with generalized tonic-clonic occurred 3 times in home. Neurological examination was essentially unremarkable except for the depressed level of consciousness. Personal and medical history was unremarkable. There was no evidence of intracranial ischemic or hemorrhagic lesions in computed tomography scan. There were no further seizures, the condition of the patient remained stable, and he was discharged 2 days after admission. The use of viscous lidocaine may result in cardiovascular and CNS toxicity, particularly in children. Conservative management is the best option for treatment of lidocaine induced seizure. PMID:25709968

  17. [Reflex seizures, cinema and television].

    PubMed

    Olivares-Romero, Jesús

    2015-12-16

    In movies and television series are few references to seizures or reflex epilepsy even though in real life are an important subgroup of total epileptic syndromes. It has performed a search on the topic, identified 25 films in which they appear reflex seizures. Most seizures observed are tonic-clonic and visual stimuli are the most numerous, corresponding all with flashing lights. The emotions are the main stimuli in higher level processes. In most cases it is not possible to know if a character suffers a reflex epilepsy or suffer reflex seizures in the context of another epileptic syndrome. The main conclusion is that, in the movies, the reflex seizures are merely a visual reinforcing and anecdotal element without significant influence on the plot. PMID:26662874

  18. Predicting Epileptic Seizures in Advance

    PubMed Central

    Moghim, Negin; Corne, David W.

    2014-01-01

    Epilepsy is the second most common neurological disorder, affecting 0.6–0.8% of the world's population. In this neurological disorder, abnormal activity of the brain causes seizures, the nature of which tend to be sudden. Antiepileptic Drugs (AEDs) are used as long-term therapeutic solutions that control the condition. Of those treated with AEDs, 35% become resistant to medication. The unpredictable nature of seizures poses risks for the individual with epilepsy. It is clearly desirable to find more effective ways of preventing seizures for such patients. The automatic detection of oncoming seizures, before their actual onset, can facilitate timely intervention and hence minimize these risks. In addition, advance prediction of seizures can enrich our understanding of the epileptic brain. In this study, drawing on the body of work behind automatic seizure detection and prediction from digitised Invasive Electroencephalography (EEG) data, a prediction algorithm, ASPPR (Advance Seizure Prediction via Pre-ictal Relabeling), is described. ASPPR facilitates the learning of predictive models targeted at recognizing patterns in EEG activity that are in a specific time window in advance of a seizure. It then exploits advanced machine learning coupled with the design and selection of appropriate features from EEG signals. Results, from evaluating ASPPR independently on 21 different patients, suggest that seizures for many patients can be predicted up to 20 minutes in advance of their onset. Compared to benchmark performance represented by a mean S1-Score (harmonic mean of Sensitivity and Specificity) of 90.6% for predicting seizure onset between 0 and 5 minutes in advance, ASPPR achieves mean S1-Scores of: 96.30% for prediction between 1 and 6 minutes in advance, 96.13% for prediction between 8 and 13 minutes in advance, 94.5% for prediction between 14 and 19 minutes in advance, and 94.2% for prediction between 20 and 25 minutes in advance. PMID:24911316

  19. Seizure Treatment in Transplant Patients

    PubMed Central

    Shepard, Paul W.

    2013-01-01

    Opinion statement Solid organ transplantation is frequently complicated by a spectrum of seizure types, including single partial-onset or generalized tonic-clonic seizures, acute repetitive seizures or status epilepticus, and sometimes the evolution of symptomatic epilepsy. There is currently no specific evidence involving the transplant patient population to guide the selection, administration, or duration of antiepileptic drug (AED) therapy, so familiarity with clinical AED pharmacology and application of sound judgment are necessary for successful patient outcomes. An initial detailed search for symptomatic seizure etiologies, including metabolic, infectious, cerebrovascular, and calcineurin inhibitor treatment-related neuro-toxic complications such as posterior reversible encephalopathy syndrome (PRES), is imperative, as underlying central nervous system disorders may impose additional serious risks to cerebral or general health if not promptly detected and appropriately treated. The mainstay for post-transplant seizure management is AED therapy directed toward the suspected seizure type. Unfavorable drug interactions could place the transplanted organ at risk, so choosing an AED with limited interaction potential is also crucial. When the transplanted organ is dysfunctional or vulnerable to rejection, AEDs without substantial hepatic metabolism are favored in post-liver transplant patients, whereas after renal transplantation, AEDs with predominantly renal elimination may require dosage adjustment to prevent adverse effects. Levetiracetam, gabapentin, pregabalin, and lacosamide are drugs of choice for treatment of partial-onset seizures in post-transplant patients given their efficacy spectrum, generally excellent tolerability, and lack of drug interaction potential. Levetiracetam is the drug of choice for primary generalized seizures in post-transplant patients. When intravenous drugs are necessary for acute seizure management, benzodiazepines and

  20. Endocervical Atypical Polypoid Adenomyoma.

    PubMed

    Protopapas, Athanasios; Sotiropoulou, Maria; Athanasiou, Stavros; Loutradis, Dimitrios

    2016-01-01

    Atypical polypoid adenomyomas (APAMs) are rare uterine tumors that occur predominantly in premenopausal women, with less than 250 cases reported so far, worldwide. They may recur after treatment, and they may coexist with, or precede development of an endometrial adenocarcinoma. For this reason cases managed with conservative surgery or medical therapies require long-term follow-up. We report the case of a 41 years old nulliparous patient who during a diagnostic hysteroscopy was found with an endocervical atypical polypoid adenomyoma (APAM). The patient was desirous of a pregnancy, reported menometrorrhagia, and had a coexistent 5 cm, grade 2, submucous myoma, 3 endometrial polyps, and diffuse adenomyosis. She was treated with hysteroscopic resection of the APAM and polyps, plus laparoscopic myomectomy and wedge resection of adenomyosis. She is on an IVF list and after 4 months she is symptoms-free. PMID:26304721

  1. Retrospective study of late febrile seizures.

    PubMed

    Webb, D W; Jones, R R; Manzur, A Y; Farrell, K

    1999-04-01

    This retrospective study documents the clinical features, electroencephalographic data, and outcome of 50 children with a history of seizures with fever that occurred after 5 years of age. Children with afebrile seizures before the onset of febrile seizures were excluded. Outcome was based on a cross-sectional survey and the follow-up period was 1-13 years. Of the 50 children, 40 had two or fewer febrile seizures after 5 years of age, and febrile seizures did not occur after 10 years of age. Twenty had complex febrile seizures, and 16 had a first-degree relative with febrile seizures. Five developed afebrile seizures, and 18 had educational difficulties. Epileptiform electroencephalographic abnormalities were observed in 22 but were not predictive of later afebrile seizures. Febrile seizures that occur after 5 years of age recur infrequently and cease by 10 years of age. The risk of developing afebrile seizures in this group is small. PMID:10328275

  2. Reduced glucose utilization underlies seizure protection with dietary therapy in epileptic EL mice.

    PubMed

    Meidenbauer, Joshua J; Roberts, Mary F

    2014-10-01

    Dietary therapy has been used to treat many individuals with epilepsy whose seizures are refractory to antiepileptic drugs. The mechanisms for how dietary therapy confers seizure protection are currently not well understood. We evaluated the acute effects of glucose and β-hydroxybutyrate (the major circulating ketone body) in conferring seizure protection to the EL mouse, a model of multifactorial idiopathic generalized epilepsy. EL mice were fed either an unrestricted standard diet or a calorie-restricted standard diet to achieve a body weight reduction of 20-23%. D-Glucose, 2-deoxy-D-glucose, and β-hydroxybutyrate were supplemented in the drinking water of calorie-restricted mice for 2.5 h prior to seizure testing to simulate the effect of increased glucose availability, decreased glucose utilization, and increased ketone availability, respectively. Seizure susceptibility, body weight, plasma glucose, and β-hydroxybutyrate were measured over a nine-week treatment period. Additionally, excitatory and inhibitory amino acids were measured in the brains of mice using (1)H NMR. Glutamate decarboxylase activity was also measured to evaluate the connection between dietary therapy and brain metabolism. We found that lowering of glucose utilization is necessary to confer seizure protection with long-term (>4 weeks) calorie restriction, whereas increased ketone availability did not affect seizure susceptibility. In the absence of long-term calorie restriction, however, reduced glucose utilization and increased ketone availability did not affect seizure susceptibility. Brain excitatory and inhibitory amino acid content did not change with treatment, and glutamate decarboxylase activity was not associated with seizure susceptibility. We demonstrated that reduced glucose utilization is necessary to confer seizure protection under long-term calorie restriction in EL mice, while acute ketone supplementation did not confer seizure protection. Further studies are needed to

  3. Electrographic seizures after convulsive status epilepticus in children and young adults. A retrospective multicenter study

    PubMed Central

    Fernández, Iván Sánchez; Abend, Nicholas S.; Arndt, Daniel H.; Carpenter, Jessica L.; Chapman, Kevin E; Cornett, Karen M.; Dlugos, Dennis J.; Gallentine, William B.; Giza, Christopher C; Goldstein, Joshua L; Hahn, Cecil D; Lerner, Jason T; Matsumoto, Joyce H; McBain, Kristin; Nash, Kendall B; Payne, Eric; Sánchez, Sarah M; Williams, Korwyn; Loddenkemper, Tobias

    2013-01-01

    Objectives To describe the prevalence, characteristics and predictors of electrographic seizures following convulsive status epilepticus (CSE). Study design Multicenter retrospective study describing clinical and electroencephalographic (EEG) features of children (1 month-21 years) with CSE who underwent continuous EEG monitoring. Results Ninety-eight children (53 males) with a median age of 5 years with CSE underwent subsequent continuous EEG monitoring after CSE. Electrographic seizures (with or without clinical correlate) were identified in 32 subjects (33%). Eleven subjects (34.4%) had electrographic-only seizures, 17 subjects (53.1%) had electro-clinical seizures, and 4 subjects (12.5%) had an unknown clinical correlate. Of the 32 subjects with electrographic seizures, 15 subjects (46.9%) had electrographic status epilepticus. Factors associated with the occurrence of electrographic seizures after CSE were a prior diagnosis of epilepsy (p= 0.029) and the presence of interictal epileptiform discharges (p< 0.0005). The median (p25–p75) duration of stay in the pediatric intensive care unit was longer for children with electrographic seizures than for children without electrographic seizures [9.5 (3–22.5) versus 2 (2–5) days, Wilcoxon test, Z=3.916, p=0.0001]. Four children (4.1%) died before leaving the hospital and we could not identify a relationship between death and the presence or absence of electrographic seizures. Conclusions Following CSE, one-third of children who underwent EEG monitoring experienced electrographic seizures, and among these, one-third experienced entirely electrographic-only seizures. A prior diagnosis of epilepsy and the presence of interictal epileptiform discharges were risk factors for electrographic seizures. PMID:24161223

  4. Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy.

    PubMed

    Weng, Wen-Chin; Jiang, George J A; Chang, Chi-Feng; Lu, Wen-Yu; Lin, Chun-Yen; Lee, Wang-Tso; Shieh, Jiann-Shing

    2015-01-01

    Absence epilepsy is an important epileptic syndrome in children. Multiscale entropy (MSE), an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity. This study investigated the complexity of electroencephalogram (EEG) signals using MSE in children with absence epilepsy. In this research, EEG signals from 19 channels of the entire brain in 21 children aged 5-12 years with absence epilepsy were analyzed. The EEG signals of pre-ictal (before seizure) and ictal states (during seizure) were analyzed by sample entropy (SamEn) and MSE methods. Variations of complexity index (CI), which was calculated from MSE, from the pre-ictal to the ictal states were also analyzed. The entropy values in the pre-ictal state were significantly higher than those in the ictal state. The MSE revealed more differences in analysis compared to the SamEn. The occurrence of absence seizures decreased the CI in all channels. Changes in CI were also significantly greater in the frontal and central parts of the brain, indicating fronto-central cortical involvement of "cortico-thalamo-cortical network" in the occurrence of generalized spike and wave discharges during absence seizures. Moreover, higher sampling frequency was more sensitive in detecting functional changes in the ictal state. There was significantly higher correlation in ictal states in the same patient in different seizures but there were great differences in CI among different patients, indicating that CI changes were consistent in different absence seizures in the same patient but not from patient to patient. This implies that the brain stays in a homogeneous activation state during the absence seizures. In conclusion, MSE analysis is better than SamEn analysis to analyze complexity of EEG, and CI can be used to investigate the functional brain changes during absence seizures. PMID:26244497

  5. Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy

    PubMed Central

    Chang, Chi-Feng; Lu, Wen-Yu; Lin, Chun-Yen; Lee, Wang-Tso; Shieh, Jiann-Shing

    2015-01-01

    Absence epilepsy is an important epileptic syndrome in children. Multiscale entropy (MSE), an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity. This study investigated the complexity of electroencephalogram (EEG) signals using MSE in children with absence epilepsy. In this research, EEG signals from 19 channels of the entire brain in 21 children aged 5-12 years with absence epilepsy were analyzed. The EEG signals of pre-ictal (before seizure) and ictal states (during seizure) were analyzed by sample entropy (SamEn) and MSE methods. Variations of complexity index (CI), which was calculated from MSE, from the pre-ictal to the ictal states were also analyzed. The entropy values in the pre-ictal state were significantly higher than those in the ictal state. The MSE revealed more differences in analysis compared to the SamEn. The occurrence of absence seizures decreased the CI in all channels. Changes in CI were also significantly greater in the frontal and central parts of the brain, indicating fronto-central cortical involvement of “cortico-thalamo-cortical network” in the occurrence of generalized spike and wave discharges during absence seizures. Moreover, higher sampling frequency was more sensitive in detecting functional changes in the ictal state. There was significantly higher correlation in ictal states in the same patient in different seizures but there were great differences in CI among different patients, indicating that CI changes were consistent in different absence seizures in the same patient but not from patient to patient. This implies that the brain stays in a homogeneous activation state during the absence seizures. In conclusion, MSE analysis is better than SamEn analysis to analyze complexity of EEG, and CI can be used to investigate the functional brain changes during absence seizures. PMID:26244497

  6. Hemispheric surgery for refractory epilepsy: a systematic review and meta-analysis with emphasis on seizure predictors and outcomes.

    PubMed

    Hu, Wen-Han; Zhang, Chao; Zhang, Kai; Shao, Xiao-Qiu; Zhang, Jian-Guo

    2016-04-01

    OBJECT Conflicting conclusions have been reported regarding several factors that may predict seizure outcomes after hemispheric surgery for refractory epilepsy. The goal of this study was to identify the possible predictors of seizure outcome by pooling the rates of postoperative seizure freedom found in the published literature. METHODS A comprehensive literature search of PubMed, Embase, and the Cochrane Library identified English-language articles published since 1970 that describe seizure outcomes in patients who underwent hemispheric surgery for refractory epilepsy. Two reviewers independently assessed article eligibility and extracted the data. The authors pooled rates of seizure freedom from papers included in the study. Eight potential prognostic variables were identified and dichotomized for analyses. The authors also compared continuous variables within seizure-free and seizure-recurrent groups. Random- or fixed-effects models were used in the analyses depending on the presence or absence of heterogeneity. RESULTS The pooled seizure-free rate among the 1528 patients (from 56 studies) who underwent hemispheric surgery was 73%. Patients with an epilepsy etiology of developmental disorders, generalized seizures, nonlateralization on electroencephalography, and contralateral MRI abnormalities had reduced odds of being seizure-free after surgery. CONCLUSIONS Hemispheric surgery is an effective therapeutic modality for medically intractable epilepsy. This meta-analysis provides useful evidence-based information for the selection of candidates for hemispheric surgery, presurgical counseling, and explanation of seizure outcomes. PMID:26495944

  7. Electroencephalographic seizures during cardiopulmonary bypass

    PubMed Central

    Stockard, J.; Calanchini, P.; Bickford, R.; Billinger, T.

    1974-01-01

    Eleven cardiac operations are reported in which there was electroencephalographic and/or clinical evidence of seizure activity during cardiopulmonary bypass (CPB). In four patients seizure activity appeared after acute episodes of cerebral ischaemia resulting from either hypotension or pump-generated emboli occurring at the beginning of CPB, or from air embolism occurring at the end of CPB when the myocardium was closed and defibrillated. In the remaining seven patients the seizures appeared to result from the synergistic action of a toxic substance in the perfusate with pre-existing or CPB-induced alterations in cerebral physiology. Images PMID:4819907

  8. Seizures in Infants and Young Children.

    ERIC Educational Resources Information Center

    McBrien, Dianne M.; Bonthius, Daniel J.

    2000-01-01

    This article reviews the most frequent causes of seizure disorders in young children and the classification of different seizure types. It discusses current therapies, including alternatives to medication. Emergency response to seizures is covered a well as non-epileptic episodes that may resemble seizures. Epilepsy's potential impact on the…

  9. Atypical odontalgia--an update.

    PubMed

    Patel, Seena B; Boros, Audrey L; Kumar, Satish K S

    2012-09-01

    Atypical odontalgia is a commonly misdiagnosed condition that frequently leads to unnecessary dental treatments such as extraction and endodontic therapy. These treatments often worsen the pain. Despite greater recognition and understanding of this condition, proper diagnosis and treatment remains a challenge. It is believed that atypical odontalgia is a neuropathic condition. This article updates the current understanding of the etiology and pathophysiology of atypical odontalgia, and provides appropriate diagnostic and management approaches for this condition. PMID:23097829

  10. Recent Research on Febrile Seizures: A Review

    PubMed Central

    Syndi Seinfeld, DO; Pellock, John M.

    2014-01-01

    Febrile seizures are common and mostly benign. They are the most common cause of seizures in children less than five years of age. There are two categories of febrile seizures, simple and complex. Both the International League against Epilepsy and the National Institute of Health has published definitions on the classification of febrile seizures. Simple febrile seizures are mostly benign, but a prolonged (complex) febrile seizure can have long term consequences. Most children who have a febrile seizure have normal health and development after the event, but there is recent evidence that suggests a small subset of children that present with seizures and fever may have recurrent seizure or develop epilepsy. This review will give an overview of the definition of febrile seizures, epidemiology, evaluation, treatment, outcomes and recent research. PMID:25383238

  11. Ranolazine overdose-induced seizures.

    PubMed

    Akil, Nour; Bottei, Edward; Kamath, Sameer

    2015-12-01

    Ranolazine is a new anti-anginal medication that was approved by the US Food and Drug Administration (FDA) in 2006 for patients with symptomatic chronic angina despite optimized therapy. This paper presents a case report of a fifteen year old male patient admitted to the pediatric intensive care unit after ranolazine overdose ingestion. He had recurrent new onset seizures that are most likely due to ranolazine overdose. Seizures have never been reported with ranolazine use or abuse. PMID:26072257

  12. Assimilating Seizure Dynamics

    PubMed Central

    Ullah, Ghanim; Schiff, Steven J.

    2010-01-01

    Observability of a dynamical system requires an understanding of its state—the collective values of its variables. However, existing techniques are too limited to measure all but a small fraction of the physical variables and parameters of neuronal networks. We constructed models of the biophysical properties of neuronal membrane, synaptic, and microenvironment dynamics, and incorporated them into a model-based predictor-controller framework from modern control theory. We demonstrate that it is now possible to meaningfully estimate the dynamics of small neuronal networks using as few as a single measured variable. Specifically, we assimilate noisy membrane potential measurements from individual hippocampal neurons to reconstruct the dynamics of networks of these cells, their extracellular microenvironment, and the activities of different neuronal types during seizures. We use reconstruction to account for unmeasured parts of the neuronal system, relating micro-domain metabolic processes to cellular excitability, and validate the reconstruction of cellular dynamical interactions against actual measurements. Data assimilation, the fusing of measurement with computational models, has significant potential to improve the way we observe and understand brain dynamics. PMID:20463875

  13. Assimilating seizure dynamics.

    PubMed

    Ullah, Ghanim; Schiff, Steven J

    2010-05-01

    Observability of a dynamical system requires an understanding of its state-the collective values of its variables. However, existing techniques are too limited to measure all but a small fraction of the physical variables and parameters of neuronal networks. We constructed models of the biophysical properties of neuronal membrane, synaptic, and microenvironment dynamics, and incorporated them into a model-based predictor-controller framework from modern control theory. We demonstrate that it is now possible to meaningfully estimate the dynamics of small neuronal networks using as few as a single measured variable. Specifically, we assimilate noisy membrane potential measurements from individual hippocampal neurons to reconstruct the dynamics of networks of these cells, their extracellular microenvironment, and the activities of different neuronal types during seizures. We use reconstruction to account for unmeasured parts of the neuronal system, relating micro-domain metabolic processes to cellular excitability, and validate the reconstruction of cellular dynamical interactions against actual measurements. Data assimilation, the fusing of measurement with computational models, has significant potential to improve the way we observe and understand brain dynamics. PMID:20463875

  14. Game-related seizures presenting with two types of clinical features.

    PubMed

    Chuang, Yao-Chung; Chang, Wen-Neng; Lin, Tsu-Kung; Lu, Cheng-Hsien; Chen, Shang-Der; Huang, Chi-Ren

    2006-03-01

    We evaluated 22 patients with epileptic seizures in which the seizures were triggered by various games or game-related materials. Based on whether spontaneous seizure coexisted or not, these 22 patients were divided into two groups. Ten patients who experienced seizures exclusively while playing or watching specific games were referred to as Group I, while 12 patients that had both game-induced and spontaneous seizures were classified as Group II. The patients in Group I had a middle-age onset (39.1 years) with a male predominance (90%). The electroencephalogram (EEG) or brain magnetic resonance imaging revealed non-specific abnormalities in 60%, and the partial onset seizure was recognized in 30% of patients. Antiepileptic drugs had uncertain benefits in this group. In Group II, patients had a male predominance (67%), with onset during adolescence (16.3 years). Most of them had generalized tonic-clonic seizures, myoclonic seizures, and absences, and 42% showed epileptiform discharge on EEG. These 12 patients were categorized into idiopathic generalized epilepsies. Although photosensitivity was an important factor, higher mental activity seemed to be significant precipitants of seizures in Group II. Antiepileptic drugs were necessary and valproic acid alone or combined with clonazepam was effective in this group. The results showed that game-related seizures are not a unique and homogeneous syndrome and may consist of different mechanisms. Teenage onset, coexistent spontaneous seizure, and associated idiopathic generalized epilepsies were crucial factors in the determination of antiepileptic drug therapy. Moreover, avoiding the related games altogether may be a more productive preventive measure. PMID:16406611

  15. Testing atypical depression definitions.

    PubMed

    Benazzi, Franco

    2005-01-01

    The evidence supporting the DSM-IV definition of atypical depression (AD) is weak. This study aimed to test different definitions of AD. Major depressive disorder (MDD) patients (N = 254) and bipolar-II (BP-II) outpatients (N = 348) were interviewed consecutively, during major depressive episodes, with the Structured Clinical Interview for DSM-IV. DSM-IV criteria for AD were followed. AD validators were female gender, young onset, BP-II, axis I comorbidity, bipolar family history. Frequency of DSM-IV AD was 43.0%. AD, versus non-AD, was significantly associated with all AD validators, apart from comorbidity when controlling for age and sex. Factor analysis of atypical symptoms found factor 1 including oversleeping, overeating and weight gain (leaden paralysis at trend correlation), and factor 2 including interpersonal sensitivity, mood reactivity, and leaden paralysis. Multiple logistic regression of factor 1 versus AD validators found significant associations with several validators (including bipolar family history), whereas factor 2 had no significant associations. Findings may support a new definition of AD based on the state-dependent features oversleeping and overeating (plus perhaps leaden paralysis) versus the current AD definition based on a combination of state and trait features. Pharmacological studies are required to support any new definition of AD, as the current concept of AD is based on different response to TCA antidepressants versus non-AD. PMID:16175877

  16. [Two siblings with eyelid myoclonia with absences].

    PubMed

    Yagi, S; Matsuzawa, J; Hongou, K; Yamatani, M; Miyawaki, T; Konishi, T

    2001-11-01

    We report two siblings with eyelid myoclonia with absences. Patient 1, a 7-year-old boy, visited us because of eyelid blinking resembling a tic. He had experienced the movements since 2 years old. The diagnosis of a simple motor tic was initially made, however, the episodes worsened gradually. Patient 2, a younger brother of patient 1, was a 5-year-old boy. His eyelid blinking also began at age of 2 years. Additionally, the mother's aunt and her cousin had a history of grand mal on awakening, and the patient's cousin has febrile seizures. Their clinical features were as follows; (i) eyelid myoclonia, described as rapid, rhythmic eyelid fluttering with upward jerking of the eyes and head, lasting for 1-2 seconds; (ii) it occurred frequently each day; (iii) when it lasted for more than 2-3 seconds, it was associated with absences; (iv) both hyperventilation and photic stimulation on 18 f/c induced clinical seizures; and (v) ictal EEG revealed 3-4 c/s generalized irregular spike-waves with a duration of 1-3 seconds. Based on these characteristics, a diagnosis of eyelid myoclonia with absences was made. The present cases are the first sibling cases reported in Japan and, according to their family history, a genetic predisposition should be considered. PMID:11725520

  17. Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf?

    PubMed

    Nickels, Katherine

    2015-01-01

    Studies of generalized electroclinical syndromes can provide guidance regarding long-term seizure, cognitive, and psychosocial outcomes. Childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and idiopathic generalized epilepsy with generalized tonic-clonic seizures alone are electroclinical syndromes typically associated with normal intellect and good response to antiseizure medications. However, studies have demonstrated significantly poorer psychosocial outcomes than expected for these syndromes, regardless of seizure control. Potential causes for this include underlying abnormalities in social skills, social stigma, and underlying abnormalities in brain development and maturation. PMID:26316843

  18. [Martin Luther's seizure disorder].

    PubMed

    Feldmann, H

    1989-01-01

    Martin Luther's diseases are well documented, because he used to discuss them freely in his letters. There is also a wealth of evidence through reports by his friends. Most of his diseases were common and well known to the contemporary physicians, who accordingly interpreted them correctly: bladder stones, chronic constipation, hemorrhoids. Luther's death obviously was due to a coronary thrombosis. During the last 19 years of his life, in addition to these "natural diseases", Luther also suffered from recurring attacks of a peculiar symptomatology. Luther himself and his friends considered these seizures to be no "natural disease", but Satan punching his flesh, and he compared them to St. Paul's disease (2. Cor. 12). The first of these attacks occurred on July 6, 1527, when Luther was 43 years of age. It began with a roaring tinnitus in his left ear, which increased dramatically and seemed to occupy the left half of his head. Then a state of sickness and collapse followed, however, consciousness was retained throughout the whole period. After a night's rest all the symptoms had subsided, except the tinnitus, which, from that day on, continued for all the following years in varying intensity. Similar attacks with increase of the tinnitus and vertigo as the leading symptoms, seized Luther at irregular intervals and distressed him extremely. Former investigators of Luther's diseases interpreted these attacks as manifestations of a psychiatric disorder and a chronic inflammatory disease of the middle ear. The present detailed study reveals that it was a typical case of Menière's disease of the left ear manifesting itself more than 330 years before Menière's classical observation. PMID:2529669

  19. Seizures and epilepsy in Alzheimer's disease.

    PubMed

    Friedman, Daniel; Honig, Lawrence S; Scarmeas, Nikolaos

    2012-04-01

    Many studies have shown that patients with Alzheimer's disease (AD) are at increased risk for developing seizures and epilepsy. However, reported prevalence and incidence of seizures and relationship of seizures to disease measures such as severity, outcome, and progression vary widely between studies. We performed a literature review of the available clinical and epidemiological data on the topic of seizures in patients with AD. We review seizure rates and types, risk factors for seizures, electroencephalogram (EEG) studies, and treatment responses. Finally, we consider limitations and methodological issues. There is considerable variability in the reported prevalence and incidence of seizures in patients with AD-with reported lifetime prevalence rates of 1.5-64%. More recent, prospective, and larger studies in general report lower rates. Some, but not all, studies have noted increased seizure risk with increasing dementia severity or with younger age of AD onset. Generalized convulsive seizures are the most commonly reported type, but often historical information is the only basis used to determine seizure type and the manifestation of seizures may be difficult to distinguish from other behaviors common in demented patients. EEG has infrequently been performed and reported. Data on treatment of seizures in AD are extremely limited. Similarly, the relationship between seizures and cognitive impairment in AD is unclear. We conclude that the literature on seizures and epilepsy in AD, including diagnosis, risk factors, and response to treatment suffers from methodological limitations and gaps. PMID:22070283

  20. Atypical histiocytosis in the lung

    PubMed Central

    Cao, Weijun; Zhang, Rongxuan; Zhou, Ying; Xu, Jinfu; Garfield, David H.

    2013-01-01

    Objective To report a rare case of atypical histiocytic tumor of the lung with a review of literature. Methods The clinical materials were noted. Literature related to this condition from the past 50 years was reviewed from the group of histiocytic tumors. Results and conclusions Clinical manifestations were non-specific. The imaging characteristics of our case were infiltrative lesions with multiple cysts in both lungs. Pathology showed nodular proliferation of atypical cells. Immunohistochemistry suggested a histiocytic origin of the infiltrating atypical cells. Because the pathological findings did not fall into any particular category of typical histiocytic tumors, the final diagnosis was atypical histiocytic tumor. The presentation of atypical histiocytic tumor of the lungs, only, with infiltrative lesions and multiple air cysts seems very rare, with pathological examination being “gold standard” for the diagnosis. PMID:23991320

  1. Osthole suppresses seizures in the mouse maximal electroshock seizure model.

    PubMed

    Luszczki, Jarogniew J; Andres-Mach, Marta; Cisowski, Wojciech; Mazol, Irena; Glowniak, Kazimierz; Czuczwar, Stanislaw J

    2009-04-01

    The aim of this study was to determine the anticonvulsant effects of osthole {[7-methoxy-8-(3-methyl-2-butenyl)-2H-1-benzopyran-2-one]--a natural coumarin derivative} in the mouse maximal electroshock-induced seizure model. The antiseizure effects of osthole were determined at 15, 30, 60, and 120 min after its systemic (i.p.) administration. Time course of anticonvulsant action of osthole revealed that the natural coumarin derivative produced a clear-cut antielectroshock activity in mice and the experimentally-derived ED(50) values for osthole ranged from 259 to 631 mg/kg. In conclusion, osthole suppresses seizure activity in the mouse maximal electroshock-induced seizure model. It may become a novel treatment option following further investigation in other animal models of epilepsy and preclinical studies. PMID:19236860

  2. Semiology of typical and atypical Rolandic epilepsy: a video-EEG analysis.

    PubMed

    Saint-Martin, A D; Carcangiu, R; Arzimanoglou, A; Massa, R; Thomas, P; Motte, J; Marescaux, C; Metz-Lutz, M N; Hirsch, E

    2001-12-01

    Since the first descriptions of Rolandic Epilepsy or benign epilepsy with centrotemporal spikes (BECTS), typical and atypical forms have been reported. Indeed, classical focal seizures are sometimes associated with various atypical ictal symptoms and cognitive or behavioural disorders. In an effort to define early clinical and EEG criteria allowing early distinction between typical and atypical forms, we recently conducted a prospective study in a cohort of children with Rolandic Epilepsy. The results of this study have been reported elsewhere. We now discuss the semiological characteristics, and comment on the video-EEG data collected during this study. Symptoms were classified into three major categories: "classical focal seizures"; "spike and wave related symptoms"; and "paraictal symptoms". Classical focal seizures constitute the electroclinical expression of the development and the propagation of a focal cortical neuronal discharge. "Spike and wave related symptoms" are brief neurological or neuropsychological phenomena having a relatively strict temporal relation with individual components of isolated focal or generalized spikes and waves. "Paraictal symptoms" consist of acquired progressive and fluctuating motor or cognitive deficits and are not directly correlated with Todd paralysis. We present detailed video-EEG material of selected cases and discuss the usefulness of such distinctions in terminology. We suggest that variability in clinical expression probably reflects the implication of different pathophysiological mechanisms, which in turn could explain differences in sensitivity to treatment. (Published with videosequences.) PMID:11844712

  3. Generalized versus partial reflex seizures: a review.

    PubMed

    Italiano, Domenico; Ferlazzo, Edoardo; Gasparini, Sara; Spina, Edoardo; Mondello, Stefania; Labate, Angelo; Gambardella, Antonio; Aguglia, Umberto

    2014-08-01

    In this review we assess our currently available knowledge about reflex seizures with special emphasis on the difference between "generalized" reflex seizures induced by visual stimuli, thinking, praxis and language tasks, and "focal" seizures induced by startle, eating, music, hot water, somatosensory stimuli and orgasm. We discuss in particular evidence from animal, clinical, neurophysiological and neuroimaging studies supporting the concept that "generalized" reflex seizures, usually occurring in the setting of IGE, should be considered as focal seizures with quick secondary generalization. We also review recent advances in genetic and therapeutic approach of reflex seizures. PMID:24766826

  4. Molecular genetics of febrile seizures.

    PubMed

    Nakayama, Junko; Arinami, Tadao

    2006-08-01

    Febrile seizures (FSs) represent the most common form of childhood seizures, occurring in 2-5% of infants in Europe and North America and in 6-9% in Japan. It has been recognized that there is a significant genetic component for susceptibility to this type of seizure. Six susceptibility FS loci have been identified on chromosomes 8q13-q21 (FEB1), 19p (FEB2), 2q23-q24 (FEB3), 5q14-q15 (FEB4), 6q22-q24 (FEB5), and 18p11 (FEB6). Furthermore, mutations in the voltage-gated sodium channel alpha-1, alpha-2 and beta-1 subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor gamma-2 subunit gene (GABRG2) have been identified in families with a clinical subset of seizures termed "generalized epilepsy with febrile seizure plus (GEFS+)". However, the causative genes have not been identified in most patients with FSs or GEFS+. Common forms of FSs are genetically complex disorders believed to be influenced by variations in several susceptibility genes. Recently, several association studies in FSs have been reported, but the results vary among different groups and no consistent or convincing FS susceptibility genes have emerged. To find a true association, larger sample size and newer methodologic refinements are recommended. PMID:16887333

  5. Intranasal therapies for acute seizures.

    PubMed

    Kälviäinen, Reetta

    2015-08-01

    Most seizure emergencies occur outside of the hospital, and there is a need for treatment interventions that can be administered quickly and safely by nonclinical caregivers. Intranasal benzodiazepine administration does not require intravenous access and offers rapid seizure cessation. Intranasal midazolam is faster at aborting seizure activity than rectal diazepam and quicker to administer than intravenous diazepam. Although time to seizure cessation varies from study to study, intranasal midazolam is efficacious when administered not only by emergency department personnel but also by paramedics and caregivers in out-of-hospital and home settings. Absorption of midazolam intranasal formulations appears to be relatively rapid compared to diazepam formulations. Its shorter elimination half-life may also be beneficial in that patients may more quickly return to normal function because of rapid offset of effect. On the other hand, the faster rate of elimination of midazolam may expose patients to a higher rate of seizure recurrence compared with diazepam. Two diazepam formulations and one midazolam formulation are being currently developed for intranasal use. This article is part of a Special Issue entitled "Status Epilepticus". PMID:26022649

  6. Atypical odontalgia: a review.

    PubMed

    Koratkar, Harish; Pedersen, Jerome

    2008-01-01

    Since persistent and chronic pain is more common in the head and neck region than in any other part of the body, dentists are more likely to encounter these rather complex cases in their practices. This article is a review and update on atypical odontalgia (AO). AO is a persistent neuropathic pain which may be initiated after deafferentiation of trigeminal nerve fibers following root canal treatment, apicectomy, or tooth extraction, or it may be of idiopathic origin. Details concerning its characteristics, pathophysiology, diagnostic criteria, differential diagnosis, and treatment are made. The aim of this article is to help the clinician with the diagnosis and management of AO. The prognosis for AO is most often only fair, and the administration of tricyclic antidepressants often resolves symptoms. Invasive and irreversible treatment attempts are not recommended. PMID:18363287

  7. Atypical causes of cholestasis

    PubMed Central

    Nguyen, Ken D; Sundaram, Vinay; Ayoub, Walid S

    2014-01-01

    Cholestatic liver disease consists of a variety of disorders. Primary sclerosing cholangitis and primary biliary cirrhosis are the most commonly recognized cholestatic liver disease in the adult population, while biliary atresia and Alagille syndrome are commonly recognized in the pediatric population. In infants, the causes are usually congenital or inherited. Even though jaundice is a hallmark of cholestasis, it is not always seen in adult patients with chronic liver disease. Patients can have “silent” progressive cholestatic liver disease for years prior to development of symptoms such as jaundice and pruritus. In this review, we will discuss some of the atypical causes of cholestatic liver disease such as benign recurrent intrahepatic cholestasis, progressive familial intrahepatic cholestasis, Alagille Syndrome, biliary atresia, total parenteral nutrition induced cholestasis and cholestasis secondary to drug induced liver injury. PMID:25071336

  8. Dermatofibroma: Atypical Presentations.

    PubMed

    Bandyopadhyay, Mousumi Roy; Besra, Mrinal; Dutta, Somasree; Sarkar, Somnath

    2016-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma. PMID:26955137

  9. Dermatofibroma: Atypical Presentations

    PubMed Central

    Bandyopadhyay, Mousumi Roy; Besra, Mrinal; Dutta, Somasree; Sarkar, Somnath

    2016-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma. PMID:26955137

  10. [Atypical antipsychotics in the elderly].

    PubMed

    van Melick, E J M

    2004-12-01

    Central criteria for the definition of atypical antipsychotics are antipsychotic efficacy and minimal or none extrapyramidal symptoms (EPS). This last criterium is of importance in the differentiation with the traditional antipsychotics. Of the four atypical antipsychotics which are discussed here, clozapine is the most atypical. The best proof is its good efficacy in the treatment of Parkinson psychosis with minimal adverse effects on motor function. Clozapine is the best choice for this indication. At this moment there is not enough evidence available concerning quetiapine. Risperidon and olanzapine give more Dopamine2-occupancy with higher doses and can evoke EPS, but this is still less compared to the traditional antipsychotics. All four atypical drugs cause less tardive dyskinesia. Atypical antipsychotics are not well studied in the treatment of elderly patients with functional psychosis. However the available information and the literature on the treatment of young adults makes it probable that the atypical antipsychotics are at least as effective in the elderly as the traditional antipsychotics. The median daily doses are lower for elderly than for younger patients. Risperidon has been proven effective in the treatment of agressive behaviour in dementia. Atypical antipsychotics have their 'own' adverse effects. Those which have the most impact in the elderly are discussed. PMID:15704604

  11. Is there a need for ophthalmological examinations after a first seizure in paediatric patients?

    PubMed

    Bernhard, Matthias K; Gläser, Alexandra; Ulrich, Kathrin; Merkenschlager, Andreas

    2010-01-01

    In contrast to the recommendations of the International Liga against Epilepsy, many hospitals perform routinely complete ophthalmological examinations in children admitted after a first seizure. As there is no study available to date to prove the benefit of complete eye examinations in first seizure diagnosis, we conducted a study to analyse the value of a complete ophthalmological examination. All children aged 1 month to 18 years who were admitted to the children's university hospital of Leipzig with the clinical diagnosis of a first convulsive or non-convulsive afebrile seizure between 1999 and August 2005 were investigated. All children who had obtained a complete ophthalmological examination within 72 h after the seizure were included in the observational study. A total of 310 children were analysed in the study. Two hundred thirty patients had a tonic-clonic afebrile seizure, the others focal, complex-partial seizures or absences. Two hundred seven out of 310 children showed no ophthalmological pathologies. Eighty-three children had refraction anomalies or strabism, 18 children had optic atrophy, three had congenital eye muscle paresis, and three had malformations. A 16-year-old girl had a homonymous quadrantanopia due to an occipital glioglioma that caused the seizure. An 11-year-old girl had a retinal haemorrhage without any brain lesions after a fall caused by a first tonic-clonic seizure. None of the ophthalmological findings influenced directly the immediate clinical course of diagnosis and treatment of the seizure. Our data suggest that routine ophthalmological examination in all children does not have additional benefit in the first seizure diagnosis management. PMID:19271236

  12. Pediatric seizure-related posttraumatic stress and anxiety symptoms treated with EMDR: a case series

    PubMed Central

    Dautovic, Elmedina; de Roos, Carlijn; van Rood, Yanda; Dommerholt, Agnes; Rodenburg, Roos

    2016-01-01

    Purpose To examine the potential effects of eye movement desensitization and reprocessing (EMDR) in children with epilepsy-related posttraumatic stress and/or anxiety symptoms, using a case series design. Methods Five children (aged 8–18) with epilepsy identified for seizure-related posttraumatic stress and/or anxiety symptoms were treated with EMDR. To examine potential treatment effects, posttraumatic stress and anxiety symptoms were assessed (CRTI and SCARED) pre- and post-EMDR and at 3-month follow-up. Normative deviation scores were calculated to examine the severity of seizure-related posttraumatic stress and anxiety symptoms over time. The reliable change index was calculated for pre- to posttreatment change of seizure-related posttraumatic stress and/or anxiety symptoms. Results Before EMDR, overall or subscale scores indicated that all children had (sub)clinical seizure-related posttraumatic stress symptoms and/or anxiety symptoms. Directly after EMDR, most children showed significant and/or clinical individual improvement, and these beneficial effects were maintained or reached at follow-up. The mean number of sessions was 2 (range 1–3, 45 min per session). Conclusions In case of seizure-related posttraumatic stress and/or anxiety, this study indicates that EMDR is a potentially successful quick and safe psychological treatment for children with epilepsy. Highlights of the article The first study to examine the potential effects of EMDR to reduce clinical seizure-related posttraumatic stress symptoms and/or anxiety symptoms in children with epilepsy. After 1–3 EMDR (45 min) sessions, positive treatment effects were found on a range of seizure-related PTSD symptoms and/or anxiety symptoms. During treatment, no seizures, absences, or any other adverse events were observed; the seizure diaries showed that none of the children experienced more seizures (or an unusual pattern) after treatment. At the reevaluation of EMDR, all children and parents

  13. Utility of different seizure induction protocols in psychogenic nonepileptic seizures.

    PubMed

    Goyal, Gourav; Kalita, Jayantee; Misra, Usha K

    2014-08-01

    Psychogenic non epileptic seizure (PNES) can be induced by several induction tests but their relative usefulness has not been evaluated. In this study, we report the sensitivity and specificity of various induction tests in the diagnosis of PNES and assess their discomfort level. The induction tests were: (a) compression of temple region (CTR), (b) verbal suggestion (VS), (c) tuning fork application (TFA), (d) moist swab application (MSA), (e) torch light stimulation (TLS) and (f) saline injection (SI). Up to 3 trials were done for each test except for normal saline injection which was given once. For comparison of these tests, patients with epileptic seizures were included as controls. The time to precipitate PNES was recorded and patients' discomfort levels were noted on a 0-10 scale. Video EEG was recorded in the PNES patients. 140 patients with PNES and 50 controls with epileptic seizures were included. The diagnostic yield of CTR was 65.7%, TFA 61.4%, MSA 60.7%, SI 55.6%, VS 54.3% and TLS 40.7%. These tests did not induce seizures in the controls. All these tests had 100% specificity and 100% positive predictive value in the diagnosis of PNES. The maximum discomfort was reported with SI and minimum with MSA. The similarity of efficacy and discomfort with CTR and TFA appear to be the most optimal induction techniques when compared with VS, AMS, TLS, and SI. PMID:24802296

  14. Febrile Seizures and Epilepsy: Possible Outcomes

    MedlinePlus

    ... whether they could increase the risk of developing epilepsy later. Febrile seizures are defined as seizures that ... brains of patients who underwent surgery for severe epilepsy. 3 The children with FSE were com- pared ...

  15. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients.

    PubMed

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27322924

  16. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients.

    PubMed

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27483175

  17. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients

    PubMed Central

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image.

  18. Generalized tonic-clonic seizure

    MedlinePlus

    The doctor will perform a physical exam. This will include a detailed look at the brain and nervous system. An EEG (electroencephalogram) will be done to check the electrical activity in the brain. People with seizures often have abnormal electrical activity ...

  19. [Atypical hemolytic uremic syndrome].

    PubMed

    Blasco Pelicano, Miquel; Rodríguez de Córdoba, Santiago; Campistol Plana, Josep M

    2015-11-20

    The hemolytic uremic syndrome (HUS) is a clinical entity characterized by thrombocytopenia, non-immune hemolytic anemia and renal impairment. Kidney pathology shows thrombotic microangiopathy (TMA) with endothelial cell injury leading to thrombotic occlusion of arterioles and capillaries. Traditionally, HUS was classified in 2 forms: Typical HUS, most frequently occurring in children and caused by Shiga-toxin-producing bacteria, and atypical HUS (aHUS). aHUS is associated with mutations in complement genes in 50-60% of patients and has worse prognosis, with the majority of patients developing end stage renal disease. After kidney transplantation HUS may develop as a recurrence of aHUS or as de novo disease. Over the last years, many studies have demonstrated that complement dysregulation underlies the endothelial damage that triggers the development of TMA in most of these patients. Advances in our understanding of the pathogenic mechanisms of aHUS, together with the availability of novel therapeutic options, will enable better strategies for the early diagnosis and etiological treatment, which are changing the natural history of aHUS. This review summarizes the aHUS clinical entity and describes the role of complement dysregulation in the pathogenesis of aHUS. Finally, we review the differential diagnosis and the therapeutic options available to patients with aHUS. PMID:25433773

  20. Recurrent prolonged fugue states as the sole manifestation of epileptic seizures.

    PubMed

    Khwaja, Geeta A; Duggal, Ashish; Kulkarni, Amit; Chaudhry, Neera; Gupta, Meena; Chowdhury, Debashish; Bohra, Vikram

    2013-10-01

    A fugue state is defined as an altered state of consciousness with varying degrees of motor activity and amnesia for the event. It may last for hours to days and may be psychogenic or organic in nature. Epileptic fugue states can be encountered in patients with absence or complex partial nonconvulsive status epilepticus or may occur as a postictal phenomenon in patients with generalized seizures. "absence status epilepticus" (AS) is rare and seen in only 2.6% of the cases with "childhood absence epilepsy" (CAE). The diagnosis of AS can be elusive, but sudden onset and termination of the fugue state, classical electroencephalogram (EEG) features, and response to a therapeutic trial of benzodiazepines helps in confirming the diagnosis and differentiating it from nonepileptic fugue states. We report a childhood onset case, with a 10 years history of recurrent episodes of prolonged fugue state lasting for up to 24 h, as the sole manifestation of epileptic seizures. The EEG features were suggestive of an AS, but there was no history of typical absences, myoclonus, or generalized tonic clonic seizures. This unusual and rare case cannot be categorized into one of the defined epilepsy syndromes like CAE but belongs to a recently identified syndrome of idiopathic generalized epilepsy known as "Absence status epilepsy" in which AS is the sole or the predominant seizure type. PMID:24339579

  1. KINOMIC ALTERATIONS IN ATYPICAL MENINGIOMA

    PubMed Central

    Anderson, Joshua C.; Taylor, Robert B.; Fiveash, John B.; de Wijn, Rik; Gillespie, G. Yancey; Willey, Christopher D.

    2015-01-01

    Background We sought to profile Atypical Meningioma in a high-throughput manner to better understand the altered signaling within these tumors and specifically the kinases altered in recurrent atypical meningioma. Kinomic Profiles could be used to identify prognostic biomarkers for responders/non-responders to classify future patients that are unlikely to benefit from current therapies. Directly these results could be used to identify drug-actionable kinase targets as well. Methods Peptide-substrate microarray kinase activity analysis was conducted with a PamStation®12 analyzing the tyrosine kinome in each tumor kinetically against ~144 target peptides. These data were then analyzed relative to clinical outcome (e.g., tumor recurrence). Results 3 major clusters of atypical meningiomas were identified with highly variant peptides primarily being targets of EGFR family, ABL, BRK and BMX kinases. Kinomic analysis of recurrent atypical meningiomas indicated patterns of increased phosphorylation of BMX, TYRO3 and FAK substrates as compared to non-recurrent tumors. Conclusion The atypical meningiomas profiled here exhibited molecular sub-clustering that may have phenotypic corollaries predictive of outcome. Recurrent tumors had increases in kinase activity that may predict resistance to current therapies, and may guide selection of directed therapies. Taken together these data further the understanding of kinomic alteration in atypical meningioma, and the processes that may not only mediate recurrence, but additionally may identify kinase targets for intervention. PMID:27158663

  2. Case Report: Atypical Cornelia de Lange Syndrome.

    PubMed

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  3. Case Report: Atypical Cornelia de Lange Syndrome

    PubMed Central

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  4. Spatiotemporal dynamics of optogenetically induced and spontaneous seizure transitions in primary generalized epilepsy

    PubMed Central

    Truccolo, Wilson; Wang, Jing; Nurmikko, Arto V.

    2014-01-01

    Transitions into primary generalized epileptic seizures occur abruptly and synchronously across the brain. Their potential triggers remain unknown. We used optogenetics to causally test the hypothesis that rhythmic population bursting of excitatory neurons in a local neocortical region can rapidly trigger absence seizures. Most previous studies have been purely correlational, and it remains unclear whether epileptiform events induced by rhythmic stimulation (e.g., sensory/electrical) mimic actual spontaneous seizures, especially regarding their spatiotemporal dynamics. In this study, we used a novel combination of intracortical optogenetic stimulation and microelectrode array recordings in freely moving WAG/Rij rats, a model of absence epilepsy with a cortical focus in the somatosensory cortex (SI). We report three main findings: 1) Brief rhythmic bursting, evoked by optical stimulation of neocortical excitatory neurons at frequencies around 10 Hz, induced seizures consisting of self-sustained spike-wave discharges (SWDs) for about 10% of stimulation trials. The probability of inducing seizures was frequency-dependent, reaching a maximum at 10 Hz. 2) Local field potential power before stimulation and response amplitudes during stimulation both predicted seizure induction, demonstrating a modulatory effect of brain states and neural excitation levels. 3) Evoked responses during stimulation propagated as cortical waves, likely reaching the cortical focus, which in turn generated self-sustained SWDs after stimulation was terminated. Importantly, SWDs during induced and spontaneous seizures propagated with the same spatiotemporal dynamics. Our findings demonstrate that local rhythmic bursting of excitatory neurons in neocortex at particular frequencies, under susceptible ongoing brain states, is sufficient to trigger primary generalized seizures with stereotypical spatiotemporal dynamics. PMID:25552645

  5. Atypical hemolytic uremic syndrome

    PubMed Central

    2011-01-01

    Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin-HUS and even if some authors include secondary aHUS due to Streptococcus pneumoniae or other causes, aHUS designates a primary disease due to a disorder in complement alternative pathway regulation. Atypical HUS represents 5 -10% of HUS in children, but the majority of HUS in adults. The incidence of complement-aHUS is not known precisely. However, more than 1000 aHUS patients investigated for complement abnormalities have been reported. Onset is from the neonatal period to the adult age. Most patients present with hemolytic anemia, thrombocytopenia and renal failure and 20% have extra renal manifestations. Two to 10% die and one third progress to end-stage renal failure at first episode. Half of patients have relapses. Mutations in the genes encoding complement regulatory proteins factor H, membrane cofactor protein (MCP), factor I or thrombomodulin have been demonstrated in 20-30%, 5-15%, 4-10% and 3-5% of patients respectively, and mutations in the genes of C3 convertase proteins, C3 and factor B, in 2-10% and 1-4%. In addition, 6-10% of patients have anti-factor H antibodies. Diagnosis of aHUS relies on 1) No associated disease 2) No criteria for Shigatoxin-HUS (stool culture and PCR for Shiga-toxins; serology for anti-lipopolysaccharides antibodies) 3) No criteria for thrombotic thrombocytopenic purpura (serum ADAMTS 13 activity > 10%). Investigation of the complement system is required (C3, C4, factor H and factor I plasma concentration, MCP expression on leukocytes and anti-factor H antibodies; genetic screening to identify risk factors). The disease is familial in approximately 20% of pedigrees, with an autosomal recessive or dominant mode of transmission. As penetrance of the disease is 50%, genetic counseling is difficult. Plasmatherapy has been first line treatment until presently

  6. Lipopolysaccharide potentiates hyperthermia-induced seizures

    PubMed Central

    Eun, Baik-Lin; Abraham, Jayne; Mlsna, Lauren; Kim, Min Jung; Koh, Sookyong

    2015-01-01

    Background Prolonged febrile seizures (FS) have both acute and long-lasting effects on the developing brain. Because FS are often associated with peripheral infection, we aimed to develop a preclinical model of FS that simulates fever and immune activation in order to facilitate the implementation of targeted therapy after prolonged FS in young children. Methods The innate immune activator lipopolysaccharide (LPS) was administered to postnatal day 14 rat (200 μg/kg) and mouse (100 μg/kg) pups 2–2.5 h prior to hyperthermic seizures (HT) induced by hair dryer or heat lamp. To determine whether simulation of infection enhances neuronal excitability, latency to seizure onset, threshold temperature and total number of seizures were quantified. Behavioral seizures were correlated with electroencephalographic changes in rat pups. Seizure-induced proinflammatory cytokine production was assessed in blood samples at various time points after HT. Seizure-induced microglia activation in the hippocampus was quantified using Cx3cr1GFP/+ mice. Results Lipopolysaccharide priming increased susceptibility of rats and mice to hyperthemic seizures and enhanced seizure-induced proinflammatory cytokine production and microglial activation. Conclusions Peripheral inflammation appears to work synergistically with hyperthermia to potentiate seizures and to exacerbate seizure-induced immune responses. By simulating fever, a regulated increase in body temperature from an immune challenge, we developed a more clinically relevant animal model of prolonged FS. PMID:26357586

  7. Nonlinear analysis of EEG for epileptic seizures

    SciTech Connect

    Hively, L.M.; Clapp, N.E.; Daw, C.S.; Lawkins, W.F.; Eisenstadt, M.L.

    1995-04-01

    We apply chaotic time series analysis (CTSA) to human electroencephalogram (EEG) data. Three epoches were examined: epileptic seizure, non-seizure, and transition from non-seizure to seizure. The CTSA tools were applied to four forms of these data: raw EEG data (e-data), artifact data (f-data) via application of a quadratic zero-phase filter of the raw data, artifact-filtered data (g- data) and that was the residual after subtracting f-data from e-data, and a low-pass-filtered version (h-data) of g-data. Two different seizures were analyzed for the same patient. Several nonlinear measures uniquely indicate an epileptic seizure in both cases, including an abrupt decrease in the time per wave cycle in f-data, an abrupt increase in the Kolmogorov entropy and in the correlation dimension for e-h data, and an abrupt increase in the correlation dimension for e-h data. The transition from normal to seizure state also is characterized by distinctly different trends in the nonlinear measures for each seizure and may be potential seizure predictors for this patient. Surrogate analysis of e-data shows that statistically significant nonlinear structure is present during the non-seizure, transition , and seizure epoches.

  8. Inferring Seizure Frequency From Brief EEG Recordings

    PubMed Central

    Westover, M. Brandon; Bianchi, Matt T.; Shafi, Mouhsin; Hoch, Daniel B.; Cole, Andrew J.; Chiappa, Keith; Cash, Sydney S.

    2012-01-01

    Routine EEGs remain a cornerstone test in caring for people with epilepsy. Although rare, a self-limited seizure (clinical or electrographic only) may be observed during such brief EEGs. The implications of observing a seizure in this situation, especially with respect to inferring the underlying seizure frequency, are unclear. The issue is complicated by the inaccuracy of patient-reported estimations of seizure frequency. The treating clinician is often left to wonder whether the single seizure indicates very frequent seizures, or if it is of lesser significance. We applied standard concepts of probabilistic inference to a simple model of seizure incidence to provide some guidance for clinicians facing this situation. Our analysis establishes upper and lower bounds on the seizure rate implied by observing a single seizure during routine EEG. Not surprisingly, with additional information regarding the expected seizure rate, these bounds can be further constrained. This framework should aid the clinician in applying a more principled approach toward decision making in the setting of a single seizure on a routine EEG. PMID:23545768

  9. Electrographic seizures in pediatric ICU patients

    PubMed Central

    Arndt, Daniel H.; Carpenter, Jessica L.; Chapman, Kevin E.; Cornett, Karen M.; Gallentine, William B.; Giza, Christopher C.; Goldstein, Joshua L.; Hahn, Cecil D.; Lerner, Jason T.; Loddenkemper, Tobias; Matsumoto, Joyce H.; McBain, Kristin; Nash, Kendall B.; Payne, Eric; Sánchez, Sarah M.; Fernández, Iván Sánchez; Shults, Justine; Williams, Korwyn; Yang, Amy; Dlugos, Dennis J.

    2013-01-01

    Objectives: We aimed to determine the incidence of electrographic seizures in children in the pediatric intensive care unit who underwent EEG monitoring, risk factors for electrographic seizures, and whether electrographic seizures were associated with increased odds of mortality. Methods: Eleven sites in North America retrospectively reviewed a total of 550 consecutive children in pediatric intensive care units who underwent EEG monitoring. We collected data on demographics, diagnoses, clinical seizures, mental status at EEG onset, EEG background, interictal epileptiform discharges, electrographic seizures, intensive care unit length of stay, and in-hospital mortality. Results: Electrographic seizures occurred in 162 of 550 subjects (30%), of which 61 subjects (38%) had electrographic status epilepticus. Electrographic seizures were exclusively subclinical in 59 of 162 subjects (36%). A multivariable logistic regression model showed that independent risk factors for electrographic seizures included younger age, clinical seizures prior to EEG monitoring, an abnormal initial EEG background, interictal epileptiform discharges, and a diagnosis of epilepsy. Subjects with electrographic status epilepticus had greater odds of in-hospital death, even after adjusting for EEG background and neurologic diagnosis category. Conclusions: Electrographic seizures are common among children in the pediatric intensive care unit, particularly those with specific risk factors. Electrographic status epilepticus occurs in more than one-third of children with electrographic seizures and is associated with higher in-hospital mortality. PMID:23794680

  10. Localizing epileptic seizure onsets with Granger causality

    NASA Astrophysics Data System (ADS)

    Adhikari, Bhim M.; Epstein, Charles M.; Dhamala, Mukesh

    2013-09-01

    Accurate localization of the epileptic seizure onset zones (SOZs) is crucial for successful surgery, which usually depends on the information obtained from intracranial electroencephalography (IEEG) recordings. The visual criteria and univariate methods of analyzing IEEG recordings have not always produced clarity on the SOZs for resection and ultimate seizure freedom for patients. Here, to contribute to improving the localization of the SOZs and to understanding the mechanism of seizure propagation over the brain, we applied spectral interdependency methods to IEEG time series recorded from patients during seizures. We found that the high-frequency (>80 Hz) Granger causality (GC) occurs before the onset of any visible ictal activity and causal relationships involve the recording electrodes where clinically identifiable seizures later develop. These results suggest that high-frequency oscillatory network activities precede and underlie epileptic seizures, and that GC spectral measures derived from IEEG can assist in precise delineation of seizure onset times and SOZs.

  11. GABAergic networks jump-start focal seizures.

    PubMed

    de Curtis, Marco; Avoli, Massimo

    2016-05-01

    Abnormally enhanced glutamatergic excitation is commonly believed to mark the onset of a focal seizure. This notion, however, is not supported by firm evidence, and it will be challenged here. A general reduction of unit firing has been indeed observed in association with low-voltage fast activity at the onset of seizures recorded during presurgical intracranial monitoring in patients with focal, drug-resistant epilepsies. Moreover, focal seizures in animal models start with increased γ-aminobutyric acid (GABA)ergic interneuronal activity that silences principal cells. In vitro studies have shown that synchronous activation of GABAA receptors occurs at seizure onset and causes sizeable elevations in extracellular potassium, thus facilitating neuronal recruitment and seizure progression. A paradoxical involvement of GABAergic networks is required for the initiation of focal seizures characterized by low-voltage fast activity, which represents the most common seizure-onset pattern in focal epilepsies. PMID:27061793

  12. Glycolysis in energy metabolism during seizures.

    PubMed

    Yang, Heng; Wu, Jiongxing; Guo, Ren; Peng, Yufen; Zheng, Wen; Liu, Ding; Song, Zhi

    2013-05-15

    Studies have shown that glycolysis increases during seizures, and that the glycolytic metabolite lactic acid can be used as an energy source. However, how lactic acid provides energy for seizures and how it can participate in the termination of seizures remains unclear. We reviewed possible mechanisms of glycolysis involved in seizure onset. Results showed that lactic acid was involved in seizure onset and provided energy at early stages. As seizures progress, lactic acid reduces the pH of tissue and induces metabolic acidosis, which terminates the seizure. The specific mechanism of lactic acid-induced acidosis involves several aspects, which include lactic acid-induced inhibition of the glycolytic enzyme 6-diphosphate kinase-1, inhibition of the N-methyl-D-aspartate receptor, activation of the acid-sensitive 1A ion channel, strengthening of the receptive mechanism of the inhibitory neurotransmitter γ-minobutyric acid, and changes in the intra- and extracellular environment. PMID:25206426

  13. Seizures in supratentorial meningioma: a systematic review and meta-analysis.

    PubMed

    Englot, Dario J; Magill, Stephen T; Han, Seunggu J; Chang, Edward F; Berger, Mitchel S; McDermott, Michael W

    2016-06-01

    OBJECT Meningioma is the most common benign intracranial tumor, and patients with supratentorial meningioma frequently suffer from seizures. The rates and predictors of seizures in patients with meningioma have been significantly under-studied, even in comparison with other brain tumor types. Improved strategies for the prediction, treatment, and prevention of seizures in patients with meningioma is an important goal, because tumor-related epilepsy significantly impacts patient quality of life. METHODS The authors performed a systematic review of PubMed for manuscripts published between January 1980 and September 2014, examining rates of pre- and postoperative seizures in supratentorial meningioma, and evaluating potential predictors of seizures with separate meta-analyses. RESULTS The authors identified 39 observational case series for inclusion in the study, but no controlled trials. Preoperative seizures were observed in 29.2% of 4709 patients with supratentorial meningioma, and were significantly predicted by male sex (OR 1.74, 95% CI 1.30-2.34); an absence of headache (OR 1.77, 95% CI 1.04-3.25); peritumoral edema (OR 7.48, 95% CI 6.13-9.47); and non-skull base location (OR 1.77, 95% CI 1.04-3.25). After surgery, seizure freedom was achieved in 69.3% of 703 patients with preoperative epilepsy, and was more than twice as likely in those without peritumoral edema, although an insufficient number of studies were available for formal meta-analysis of this association. Of 1085 individuals without preoperative epilepsy who underwent resection, new postoperative seizures were seen in 12.3% of patients. No difference in the rate of new postoperative seizures was observed with or without perioperative prophylactic anticonvulsants. CONCLUSIONS Seizures are common in supratentorial meningioma, particularly in tumors associated with brain edema, and seizure freedom is a critical treatment goal. Favorable seizure control can be achieved with resection, but evidence does

  14. Atypical pediatric ganglioglioma is common and associated with a less favorable clinical course.

    PubMed

    Patibandla, Mohana Rao; Ridder, Thomas; Dorris, Kathleen; Torok, Michelle R; Liu, Arthur K; Handler, Michael H; Stence, Nicholas V; Fenton, Laura Z; Hankinson, Todd C

    2016-01-01

    OBJECT Ganglioglioma (GG) is commonly recognized as a low-grade tumor located in the temporal lobe, often presenting with seizures. Most are amenable to complete resection and are associated with excellent oncological outcome. The authors encountered several GGs in various locations, which seem to have a less favorable clinical course than GGs in the temporal lobe. METHODS The authors performed a single-center retrospective review of all children with a histological diagnosis of GG who were treated at Children's Hospital Colorado between 1997 and 2013. Each tumor was categorized by 2 pediatric neuroradiologists as typical or atypical based on preoperative MRI appearance. Typical lesions were cortically based, within a single cerebral lobe, well-circumscribed, and solid or mixed solid/cystic. The treatment and clinical course of each patient was analyzed. RESULTS Thirty-seven children were identified, with a median age at presentation of 8.2 years and median follow-up of 38.0 months. Eighteen tumors (48.6%) were typical and 19 (51.4%) were atypical. All typical lesions presented with seizures, whereas no atypical lesions did so. Sixteen (88.9%) typical lesions were located in the temporal lobe. In the atypical group, tumor location was variable, including 11 (57.9%) in the brainstem. Death during follow-up was statistically more common in the atypical group (31.6% vs 0%, p = 0.02). Gross-total resection (GTR) was achieved for 15 of 16 typical tumors (93.8%), compared with 3 atypical tumors (15.8%, p < 0.0001). Presentation with seizure or non-brainstem location were each associated with survival (p = 0.02 and 0.004, respectively). The presence of mutation in BRAF exon 15 did not differ between the 2 groups. CONCLUSIONS Pediatric GG with typical imaging features is associated with excellent rates of GTR and overall survival. Atypical GG is commonly encountered, less amenable to GTR, and associated with a worse outcome. This may relate to anatomical or biological

  15. Role of the Wada test and functional magnetic resonance imaging in preoperative mapping of language and memory: two atypical cases.

    PubMed

    Połczyńska, Monika M; Benjamin, Christopher F A; Moseley, Brian D; Walshaw, Patricia; Eliashiv, Dawn; Vigil, Celia; Jones, Michael; Bookheimer, Susan Y

    2015-01-01

    The Wada test is an invasive procedure used to determine cerebral memory and language dominance as well as risk of cognitive deficits following neurosurgery. However, the potential risks of Wada testing have led some to consider foregoing Wada testing in candidates for resective epilepsy surgery with right hemispheric seizure onset. We present two atypical cases in which the Wada test showed unexpected memory and language lateralization. These cases underscore the importance of functional magnetic resonance in which imaging and Wada examination in right-handed individuals even when the lesion would not suggest atypical language representation. PMID:25372664

  16. Seizure-induced disinhibition of the HPA axis increases seizure susceptibility

    PubMed Central

    O'Toole, Kate K.; Hooper, Andrew; Wakefield, Seth; Maguire, Jamie

    2013-01-01

    Stress is the most commonly reported precipitating factor for seizures. The proconvulsant actions of stress hormones are thought to mediate the effects of stress on seizure susceptibility. Interestingly, epileptic patients have increased basal levels of stress hormones, including corticotropin-releasing hormone (CRH) and corticosterone, which are further increased following seizures. Given the proconvulsant actions of stress hormones, we proposed that seizure-induced activation of the hypothalamic-pituitary-adrenal (HPA) axis may contribute to future seizure susceptibility. Consistent with this hypothesis, our data demonstrate that pharmacological induction of seizures in mice with kainic acid or pilocarpine increases circulating levels of the stress hormone, corticosterone, and exogenous corticosterone administration is sufficient to increase seizure susceptibility. However, the mechanism(s) whereby seizures activate the HPA axis remain unknown. Here we demonstrate that seizure-induced activation of the HPA axis involves compromised GABAergic control of CRH neurons, which govern HPA axis function. Following seizure activity, there is a collapse of the chloride gradient due to changes in NKCC1 and KCC2 expression, resulting in reduced amplitude of sIPSPs and even depolarizing effects of GABA on CRH neurons. Seizure-induced activation of the HPA axis results in future seizure susceptibility which can be blocked by treatment with an NKCC1 inhibitor, bumetanide, or blocking the CRH signaling with Antalarmin. These data suggest that compromised GABAergic control of CRH neurons following an initial seizure event may cause hyperexcitability of the HPA axis and increase future seizure susceptibility. PMID:24225328

  17. Analysis of rare copy number variation in absence epilepsies

    PubMed Central

    Rosch, Richard E.; Valentin, Antonio; Makoff, Andrew; Robinson, Robert; Everett, Kate V.; Nashef, Lina; Pal, Deb K.

    2016-01-01

    Objective: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum. Methods: We used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE). Results: We identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.2 deletion. We also expanded the phenotype at 4 regions more commonly identified in other neurodevelopmental disorders: 1p36.33 duplication, 1q21.1 deletion, 22q11.2 duplication, and Xp22.31 deletion and duplication. Fifteen patients (10.5%) were found to carry rare CNVs that disrupt genes associated with neuronal development and function (8 CAE, 2 JAE, and 5 UAE). Four categories of protein are each disrupted by several CNVs: (1) synaptic vesicle membrane or vesicle endocytosis, (2) synaptic cell adhesion, (3) synapse organization and motility via actin, and (4) gap junctions. CNVs within these categories are shared across the AE subtypes. Conclusions: Our results have reinforced the complex and heterogeneous nature of the AEs and their potential for shared genetic mechanisms and have highlighted several pathways that may be important in epileptogenesis of absence seizures. PMID:27123475

  18. Molecular genetics of febrile seizures.

    PubMed

    Iwasaki, Nobuaki; Nakayama, Junko; Hamano, Kenzo; Matsui, Akira; Arinami, Tadao

    2002-01-01

    Febrile seizures are the most common form of convulsion, occurring in 2-5% of infants in Europe and North America and in 6-9% in Japan. In large families, the febrile seizure (FS) susceptibility trait is inherited by the autosomal dominant pattern with reduced penetrance. Two putative FS loci, FEB1 (chromosome 8q13-q21) and FEB2 (chromosome 19p13.3) have been mapped. A clinical subset of FS, termed generalized epilepsy with febrile seizures plus (GEFS+), was reported. In GEFS+ families, a mutation in the voltage-gated sodium channel beta1 subunit gene (SCN1B) at chromosome 19q13.1 and two mutations of the same alpha1 subunit gene (SCN1A) at chromosome 2q24 were identified. These loci are linked to febrile convulsions in large families. We conducted a genome-wide linkage search for FS in one large family with subsequent linkage confirmation in 39 nuclear families using nonparametric allele-sharing methods, and found a new FS susceptibility locus, FEB4 (chromosome 5q14-q15). In contrast to the FEB1, FEB2, and GEFS+ genetic loci, linkage to FEB4 was suggested in nuclear FS families, indicating that FEB4 may be the most common linkage locus in FS families. PMID:12383277

  19. Aromatase inhibition, testosterone, and seizures.

    PubMed

    Harden, Cynthia; MacLusky, Neil J

    2004-04-01

    The effect of testosterone on brain excitability is unclear. The excitatory aspect of testosterone's action in the brain may be due to its conversion to estrogen via aromatase. We report herein a 61-year-old man with temporal lobe epilepsy and sexual dysfunction due to low testosterone levels. Use of an aromatase inhibitor, letrozole, normalized his testosterone level and improved his sexual functioning. Letrozole, in addition to standard antiseizure medication, was also associated with improved seizure control. This was sustained and, further, was associated with seizure exacerbation after withdrawing letrozole, and subsequent seizure improvement after restarting it. During the course of treatment, his serum testosterone level increased, sex hormone-binding globulin decreased (SHBG), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) levels increased, while serum estradiol levels remained undetectable. Letrozole may, therefore, have produced a central alteration in the testosterone/estrogen ratio, thereby impairing estrogen-mediated feedback control of the pituitary, resulting in the observed increase in circulating LH and FSH levels. This experience suggests that aromatase inhibitors should be further investigated as a beneficial treatment modality for male patients with epilepsy. PMID:15123030

  20. Smartphone applications for seizure management.

    PubMed

    Pandher, Puneet Singh; Bhullar, Karamdeep Kaur

    2016-06-01

    Technological advancements continue to provide innovative ways of enhancing patient care in medicine. In particular, the growing popularity of smartphone technology has seen the recent emergence of a myriad of healthcare applications (or apps) that promise to help shape the way in which health information is delivered to people worldwide. While limited research already exists on a range of such apps, our study is the first to examine the salient features of smartphone applications as they apply to the area of seizure management. For the purposes of this review, we conducted a search of the official online application stores of the five major smartphone platforms: iPhone, Android, Blackberry, Windows Mobile and Nokia-Symbian. Apps were included if they reported to contain some information or tools relating to seizure management and excluded if they were aimed exclusively at health professionals. A total of 28 applications met these criteria. Overall, we found an increasing number of epilepsy apps available on the smartphone market, but with only a minority offering comprehensive educational information alongside tools such as seizure diaries, medication tracking and/or video recording. PMID:25038202

  1. Neonatal Seizures: Impact on Neurodevelopmental Outcomes

    PubMed Central

    Kang, Seok Kyu; Kadam, Shilpa D.

    2015-01-01

    Neonatal period is the most vulnerable time for the occurrence of seizures, and neonatal seizures often pose a clinical challenge both for their acute management and frequency of associated long-term co-morbidities. Etiologies of neonatal seizures are known to play a primary role in the anti-epileptic drug responsiveness and the long-term sequelae. Recent studies have suggested that burden of acute recurrent seizures in neonates may also impact chronic outcomes independent of the etiology. However, not many studies, either clinical or pre-clinical, have addressed the long-term outcomes of neonatal seizures in an etiology-specific manner. In this review, we briefly review the available clinical and pre-clinical research for long-term outcomes following neonatal seizures. As the most frequent cause of acquired neonatal seizures, we focus on the studies evaluating long-term effects of HIE-seizures with the goal to evaluate (1) what parameters evaluated during acute stages of neonatal seizures can reliably be used to predict long-term outcomes? and (2) what available clinical and pre-clinical data are available help determine importance of etiology vs. seizure burdens in long-term sequelae. PMID:26636052

  2. Environmental manipulations early in development alter seizure activity, Ih and HCN1 protein expression later in life.

    PubMed

    Schridde, Ulrich; Strauss, Ulf; Bräuer, Anja U; van Luijtelaar, Gilles

    2006-06-01

    Although absence epilepsy has a genetic origin, evidence from an animal model (Wistar Albino Glaxo/Rijswijk; WAG/Rij) suggests that seizures are sensitive to environmental manipulations. Here, we show that manipulations of the early rearing environment (neonatal handling, maternal deprivation) of WAG/Rij rats leads to a pronounced decrease in seizure activity later in life. Recent observations link seizure activity in WAG/Rij rats to the hyperpolarization-activated cation current (Ih) in the somatosensory cortex, the site of seizure generation. Therefore, we investigated whether the alterations in seizure activity between rats reared differently might be correlated with changes in Ih and its channel subunits hyperpolarization-activated cation channel HCN1, 2 and 4. Whole-cell recordings from layer 5 pyramidal neurons, in situ hybridization and Western blot of the somatosensory cortex revealed an increase in Ih and HCN1 in neonatal handled and maternal deprived, compared to control rats. The increase was specific to HCN1 protein expression and did not involve HCN2/4 protein expression, or mRNA expression of any of the subunits (HCN1, 2, 4). Our findings provide the first evidence that relatively mild changes in the neonatal environment have a long-term impact of absence seizures, Ih and HCN1, and suggest that an increase of Ih and HCN1 is associated with absence seizure reduction. Our findings shed new light on the role of Ih and HCN in brain functioning and development and demonstrate that genetically determined absence seizures are quite sensitive for early interventions. PMID:16820024

  3. [Atypical antipsychotics and metabolic syndrome].

    PubMed

    Baranyi, Andreas; Yazdani, Renè; Haas-Krammer, Alexandra; Stepan, Alexandra; Kapfhammer, Hans-Peter; Rothenhäusler, Hans-Bernd

    2007-01-01

    The introduction of atypical antipsychotics in psychopharmacology represented a major advance in the treatment of psychotic disorders. However, there have been numerous studies that certain atypical antipsychotics may be associated with a greater risk of metabolic abnormalities than others, including weight gain, hyperlipidemia and new-onset typ 2 diabetes mellitus. A G-Protein beta3 subunit Gen (C825T) polymorphism, an increased carbohydrate metabolism and dyshormonism are discussed as pathogenetic mechanisms. High risk patients (adiposity, hyperlipidaemia, hyperglycaemia, preexisting diabetes) should maintain an antipsychotic agent with a favourable side effect profile. In these cases a periodical diabetes screening and blood lipid controls are required. Clinicans must balance the significant benefits of atypical antipsychotics against the risk of metabolic disturbances. In this article recent findings are reviewed. PMID:17915438

  4. Identification of atypical flight patterns

    NASA Technical Reports Server (NTRS)

    Statler, Irving C. (Inventor); Ferryman, Thomas A. (Inventor); Amidan, Brett G. (Inventor); Whitney, Paul D. (Inventor); White, Amanda M. (Inventor); Willse, Alan R. (Inventor); Cooley, Scott K. (Inventor); Jay, Joseph Griffith (Inventor); Lawrence, Robert E. (Inventor); Mosbrucker, Chris (Inventor)

    2005-01-01

    Method and system for analyzing aircraft data, including multiple selected flight parameters for a selected phase of a selected flight, and for determining when the selected phase of the selected flight is atypical, when compared with corresponding data for the same phase for other similar flights. A flight signature is computed using continuous-valued and discrete-valued flight parameters for the selected flight parameters and is optionally compared with a statistical distribution of other observed flight signatures, yielding atypicality scores for the same phase for other similar flights. A cluster analysis is optionally applied to the flight signatures to define an optimal collection of clusters. A level of atypicality for a selected flight is estimated, based upon an index associated with the cluster analysis.

  5. [Pathogenesis of atypical femoral fracture].

    PubMed

    Iwata, Ken; Mashiba, Tasuku

    2016-01-01

    We demonstrated microdamage accumulation in the fracture sites in the patients of subtrochanteric atypical femoral fracture with long term bisphosphonate therapy and of incomplete shaft fracture of lateral femoral bowing without bisphosphonate therapy. Based on these findings, pathogenesis of atypical femoral fracture is revealed stress fracture caused by accumulation of microdamages between distal to the lesser trochanter and proximal to the supracondylar flare in the femur in association with severely suppressed bone turnover and/or abnormal lower limb alignment, that causes stress concentration on the lateral side cortex of the femur. PMID:26728533

  6. Atypical neurological manifestations of malaria

    PubMed Central

    Singla, Neeraj; Gupta, Monica; Singh, Ram; Kumar, Ashwani

    2014-01-01

    Malaria is known as a great mimic. It can manifest subtly or abruptly, typically or atypically. This aspect of the disease can frequently mislead physicians. We present two patients of malaria with atypical neurological manifestations. The first patient of Plasmodium falciparum malaria presented with fever and altered sensorium; MRI of the brain suggested cerebral venous thrombosis. The second patient of Plasmodium vivax presented with fever, double vision and right eye lateral rectus palsy due to unilateral sixth cranial nerve involvement. Both patients were managed with antimalarials and supportive medical management, and had uneventful recoveries. PMID:25150266

  7. Patterns of human local cerebral glucose metabolism during epileptic seizures

    SciTech Connect

    Engel, J. Jr.; Kuhl, D.E.; Phelps, M.E.

    1982-10-01

    Ictal patterns of local cerebral metabolic rate have been studied in epileptic patients by positron computed tomography with /sup 18/F-labeled 2-fluoro-2-deoxy-D-glucose. Partial seizures were associated with activation of anatomic structures unique to each patient studied. Ictal increases and decreases in local cerebral metabolism were observed. Scans performed during generalized convulsions induced by electroshock demonstrated a diffuse ictal increase and postictal decrease in cerebral metabolism. Petit mal absences were associated with a diffuse increase in cerebral metabolic rate. The ictal fluorodeoxyglucose patterns obtained from patients do not resemble autoradiographic patterns obtained from common experimental animal models of epilepsy.

  8. Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy

    PubMed Central

    Kim, Hye Ryun; Kim, Gun-Ha; Eun, So-Hee; Eun, Baik-Lin

    2016-01-01

    Background and Purpose Childhood absence epilepsy (CAE) is one of the most common types of pediatric epilepsy. It is generally treated with ethosuximide (ESM), valproic acid (VPA), or lamotrigine (LTG), but the efficacy and adverse effects of these drugs remain controversial. This study compared initial therapy treatment outcomes, including VPA-LTG combination, and assessed clinical factors that may predict treatment response and prognosis. Methods Sixty-seven patients with typical CAE were retrospectively enrolled at the Korea University Medical Center. We reviewed patients' clinical characteristics, including age of seizure onset, seizure-free interval, duration of seizure-free period, freedom from treatment failure, breakthrough seizures frequency, and electroencephalogram (EEG) findings. Results The age at seizure onset was 7.9±2.7 years (mean±SD), and follow-up duration was 4.4±3.7 years. Initially, 22 children were treated with ESM (32.8%), 23 with VPA (34.3%), 14 with LTG (20.9%), and 8 with VPA-LTG combination (11.9%). After 48 months of therapy, the rate of freedom from treatment failure was significantly higher for the VPA-LTG combination therapy than in the three monotherapy groups (p=0.012). The treatment dose administrated in the VPA-LTG combination group was less than that in the VPA and LTG monotherapy groups. The shorter interval to loss of 3-Hz spike-and-wave complexes and the presence of occipital intermittent rhythmic delta activity on EEG were significant factors predicting good treatment response. Conclusions This study showed that low-dose VPA-LTG combination therapy has a good efficacy and fewer side effects than other treatments, and it should thus be considered as a firstline therapy in absence epilepsy. PMID:26610892

  9. EPSP depression following neocortical seizures in cat.

    PubMed

    Nita, Dragos A; Cissé, Youssouf; Timofeev, Igor

    2008-04-01

    To study the possible mechanism(s) underlying unresponsiveness following neocortical seizures, we recorded excitatory postsynaptic potentials (EPSPs) of cortical neurons evoked by ipsilateral cortical stimulation before and after spontaneous or elicited seizures. Regular-spiking neurons (n = 32) were intracellularly recorded in association area five of cats under ketamine-xylazine or barbiturate anesthesia. Compared with control responses, cortically evoked EPSPs were characterized by decreased amplitude after electrographic seizures. Synaptic responses and intrinsic properties were measured by applying extracellular electrical stimuli followed by intracellular hyperpolarizing current pulses. The input resistance decreased during seizures but quickly recovered to control level after the paroxysms, whereas the amplitude of evoked EPSPs remained lower following seizures, generally for 2-12 min, suggesting that the decreased EPSPs were not due to an alteration of intrinsic response. Data demonstrate a long-lasting decreased synaptic responsiveness following generalized spike-wave seizures slowly recovering in time. PMID:18031546

  10. Visual reflex seizures induced by complex stimuli.

    PubMed

    Zifkin, Benjamin G; Inoue, Yushi

    2004-01-01

    Visual reflex seizures induced by complex stimuli may be triggered by patterned and flashing displays that are now ubiquitous. The seizures may be clinically generalized, but unilateral and bilateral myoclonic attacks also may be triggered, especially in patients with juvenile myoclonic epilepsy, and recently, clearly focal reflex occipital lobe seizures have been described. Some seizure-triggering properties of video displays can be identified, such as perceived brightness, pattern, flicker frequency, and color. Knowledge of these is useful in planning individual treatment and in designing regulations for screen content of television broadcasts or for other video displays. Some subjects will also be sensitive to cognitive or action-programming activation, especially when playing video games, and this can increase the chance of seizure triggering. Nonspecific factors such as sleep deprivation, prolonged exposure, and drug or alcohol use also may play a role in reflex seizure occurrence. PMID:14706042

  11. Behavior of children with seizures. Comparison with norms and effect of seizure type.

    PubMed

    Aman, M G; Werry, J S; Turbott, S H

    1992-02-01

    Scores for 112 children aged 6 to 12 years, with well-controlled seizures and of average or higher IQ, were compared for problem behavior with established norms. As assessed on the Conners' Teacher Rating Scale, the group with seizures was comparable to the normative group on two subscales and superior on two others. In contrast, parents of children in the seizure group rated them as significantly worse on all six subscales of the Revised Behavior Problem Checklist. In a larger group of 133 children with seizures, from which this sample was selected, the relationship of age, sex, and seizure type to behavior problems was examined. Subjects with partial seizures were rated as slightly more aggressive and antisocial than those with generalized seizures. Findings were discussed in regard to differences in perception of behavior by parents and teachers and the possible relevance of seizure type to the expression of behavior problems. PMID:1737974

  12. Seizure Recognition and Observation: A Guide for Allied Health Professionals.

    ERIC Educational Resources Information Center

    Epilepsy Foundation of America, Landover, MD.

    Intended for allied health professionals, this guide provides information on seizure recognition and classification to help them assist the patient, the family, and the treating physician in obtaining control of epileptic seizures. A section on seizure recognition describes epilepsy and seizures, covering seizure classification and the causes of…

  13. Emergency Management of Seizures in the School Setting

    ERIC Educational Resources Information Center

    O'Dell, Christine; O'Hara, Kathryn; Kiel, Sarah; McCullough, Kathleen

    2007-01-01

    Effective seizure management in the school setting is a critical issue for students with seizures, as well as their parents, classmates, and school personnel. The unpredictable nature of seizures and the potential outcomes of experiencing a seizure in school are sources of anxiety for students with seizures. The ability to respond appropriately to…

  14. Breakthrough seizures after starting vilazodone for depression.

    PubMed

    McKean, James; Watts, Hannah; Mokszycki, Robert

    2015-03-01

    Vilazodone is a new selective serotonin reuptake inhibitor (SSRI) and serotonin 5-HT1a partial agonist that is approved by the United States Food and Drug Administration to treat major depression. SSRI-induced seizures are rare and are more likely to be associated with larger doses and severe symptoms such as those present in serotonin syndrome. Several case reports have implicated SSRIs, buspirone, or the combination of these agents as the cause of seizures, but these reports were confounded with either coingestions or doses that exceeded FDA recommendations. We describe a 22-year-old woman with a history of seizure disorder who had been seizure free for the previous 8 years and experienced two breakthrough seizures shortly after starting vilazodone. Her dose of vilazodone had recently been titrated to 40 mg/day when she experienced the first seizure. She was instructed to taper vilazodone over the next several days, then discontinue the drug, and then follow up with her neurologist. Based on the patient's history, physical examination, and recent dose increase, it was plausible that vilazodone was the cause of the seizures. Use of the Naranjo adverse drug reaction probability scale indicated a possible relationship (score of 4) between her development of seizures and vilazodone therapy. The pharmacodynamics of this particular class of SSRI has both proconvulsive and anticonvulsive mechanisms. This is of particular concern in patients with a history of seizure disorder who are starting antidepressive therapy. In persons with epilepsy who are taking vilazodone and experience breakthrough seizures, practitioners should consider this drug as a potential cause of these seizures. Thus, until future research and experience with vilazodone can provide a definitive answer, clinicians should be cautious when prescribing this medication to treat depression in patients with a history of seizure disorder. PMID:25809181

  15. Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?

    PubMed Central

    Iyer, Rajesh Shankar; Thanikasalam; Krishnan, Mugundhan

    2014-01-01

    Migrating partial seizures in infancy (MPSI) is a rare epilepsy syndrome with poor prognosis. The exact etiology of MPSI is still not known. We report a 14-month-old baby with 47XYY karyotype who presented with developmental delay and drug-refractory seizures satisfying the diagnostic criteria for MPSI and discuss the possible association between the 47XYY karyotype and this syndrome. The excess of genes due to an additional Y chromosome could cause disturbance in various stages of formation, migration, or differentiation of neurons. Depending on the degree of disturbance and the resultant cortical excitability, this could result in various epilepsy syndromes. We feel that this association is more likely causal than coincidental. Chromosome studies need to be performed in more individuals with atypical and uncommon epilepsies. Multicenter studies are required to establish the association between epilepsy syndrome and these rare chromosome disorders. PMID:25667867

  16. Atypical cadherin negotiates a turn.

    PubMed

    Shi, Dongbo; Fujimori, Toshihiko; Uemura, Tadashi

    2013-07-15

    Planar cell polarity (PCP) signaling is involved in many polarized cell behaviors. In this issue of Developmental Cell, Tatin et al. (2013) show that the atypical cadherin Celsr1 is transiently localized to cellular protrusions in lymphatic endothelial cells and acts to orient valve-forming cells perpendicular to the vessel axis. PMID:23867224

  17. Atypical Cogan's syndrome mimicking encephalitis.

    PubMed

    Lepur, Dragan; Vranjican, Zoran; Himbele, Josip; Barsić, Bruno; Klinar, Igor

    2004-01-01

    Cogan's syndrome is a rare autoimmune multisystem disease. The main clinical features of typical Cogan's syndrome are vestibuloauditory dysfunction and interstitial keratitis. The authors present a case of atypical Cogan's syndrome with headache, fever, deafness, trigeminal neuralgia and electroencephalographic abnormality which mimicked viral encephalitis. PMID:15307593

  18. Recognition and diagnosis of atypical depression.

    PubMed

    Thase, Michael E

    2007-01-01

    The term atypical depression dates to the first wave of reports describing differential response to monoamine oxidase inhibitors (MAOIs) and tricyclic antidepressants (TCAs). In contrast to more TCA-responsive depressions, patients with so-called atypical symptoms (e.g., hypersomnia, interpersonal sensitivity, leaden paralysis, increased appetite and/or weight, and phobic anxiety) were observed to be more responsive to MAOIs. After several decades of controversy and debate, the phrase "with atypical features" was added as an episode specifier in the DSM-IV in 1994. The 1-year prevalence of the defined atypical depression subtype is approximately 1% to 4%; around 15% to 29% of patients with major depressive disorder have atypical depression. Hardly "atypical" in contemporary contexts, atypical depression also is common in dysthymic bipolar II disorders and is notable for its early age at onset, more chronic course, and high rates of comorbidity with social phobia and panic disorder with agoraphobia. The requirement of preserved mood reactivity is arguably the most controversial of the DSM-IV criteria for atypical depression. When compared with melancholia, the neurobiological profiles of patients with atypical depression are relatively normal. The utility of the atypical depression subtype for differential therapeutics diminished substantially when the TCAs were supplanted as first-line antidepressants by the selective serotonin reuptake inhibitors. Although introduction of safer MAOIs has fostered renewed interest in atypical depression, the validity and importance of the DSM-IV definition of atypical depression for the nosology of affective illness remains an open question. PMID:17640153

  19. An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.

    PubMed

    Makinson, Christopher D; Dutt, Karoni; Lin, Frank; Papale, Ligia A; Shankar, Anupama; Barela, Arthur J; Liu, Robert; Goldin, Alan L; Escayg, Andrew

    2016-01-01

    Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy mutations. We have previously demonstrated that Scn8a(med) and Scn8a(med-jo) mice carrying mutations in the Scn8a gene display increased resistance to flurothyl and kainic acid-induced seizures; however, they also exhibit spontaneous absence seizures. To further investigate the relationship between altered SCN8A function and epilepsy, we introduced the SCN1A-R1648H mutation, identified in a family with generalized epilepsy with febrile seizures plus (GEFS+), into the corresponding position (R1627H) of the mouse Scn8a gene. Heterozygous R1627H mice exhibited increased resistance to some forms of pharmacologically and electrically induced seizures and the mutant Scn8a allele ameliorated the phenotype of Scn1a-R1648H mutants. Hippocampal slices from heterozygous R1627H mice displayed decreased bursting behavior compared to wild-type littermates. Paradoxically, at the homozygous level, R1627H mice did not display increased seizure resistance and were susceptible to audiogenic seizures. We furthermore observed increased hippocampal pyramidal cell excitability in heterozygous and homozygous Scn8a-R1627H mutants, and decreased interneuron excitability in heterozygous Scn8a-R1627H mutants. These results expand the phenotypes associated with disruption of the Scn8a gene and demonstrate that an Scn8a mutation can both confer seizure protection and increase seizure susceptibility. PMID:26410685

  20. Reactive astrogliosis causes the development of spontaneous seizures.

    PubMed

    Robel, Stefanie; Buckingham, Susan C; Boni, Jessica L; Campbell, Susan L; Danbolt, Niels C; Riedemann, Therese; Sutor, Bernd; Sontheimer, Harald

    2015-02-25

    Epilepsy is one of the most common chronic neurologic diseases, yet approximately one-third of affected patients do not respond to anticonvulsive drugs that target neurons or neuronal circuits. Reactive astrocytes are commonly found in putative epileptic foci and have been hypothesized to be disease contributors because they lose essential homeostatic capabilities. However, since brain pathology induces astrocytes to become reactive, it is difficult to distinguish whether astrogliosis is a cause or a consequence of epileptogenesis. We now present a mouse model of genetically induced, widespread chronic astrogliosis after conditional deletion of β1-integrin (Itgβ1). In these mice, astrogliosis occurs in the absence of other pathologies and without BBB breach or significant inflammation. Electroencephalography with simultaneous video recording revealed that these mice develop spontaneous seizures during the first six postnatal weeks of life and brain slices show neuronal hyperexcitability. This was not observed in mice with neuronal-targeted β1-integrin deletion, supporting the hypothesis that astrogliosis is sufficient to induce epileptic seizures. Whole-cell patch-clamp recordings from astrocytes further suggest that the heightened excitability was associated with impaired astrocytic glutamate uptake. Moreover, the relative expression of the cation-chloride cotransporters (CCC) NKCC1 (Slc12a2) and KCC2 (Slc12a5), which are responsible for establishing the neuronal Cl(-) gradient that governs GABAergic inhibition were altered and the NKCC1 inhibitor bumetanide eliminated seizures in a subgroup of mice. These data suggest that a shift in the relative expression of neuronal NKCC1 and KCC2, similar to that observed in immature neurons during development, may contribute to astrogliosis-associated seizures. PMID:25716834

  1. Reactive Astrogliosis Causes the Development of Spontaneous Seizures

    PubMed Central

    Buckingham, Susan C.; Boni, Jessica L.; Campbell, Susan L.; Danbolt, Niels C.; Riedemann, Therese; Sutor, Bernd; Sontheimer, Harald

    2015-01-01

    Epilepsy is one of the most common chronic neurologic diseases, yet approximately one-third of affected patients do not respond to anticonvulsive drugs that target neurons or neuronal circuits. Reactive astrocytes are commonly found in putative epileptic foci and have been hypothesized to be disease contributors because they lose essential homeostatic capabilities. However, since brain pathology induces astrocytes to become reactive, it is difficult to distinguish whether astrogliosis is a cause or a consequence of epileptogenesis. We now present a mouse model of genetically induced, widespread chronic astrogliosis after conditional deletion of β1-integrin (Itgβ1). In these mice, astrogliosis occurs in the absence of other pathologies and without BBB breach or significant inflammation. Electroencephalography with simultaneous video recording revealed that these mice develop spontaneous seizures during the first six postnatal weeks of life and brain slices show neuronal hyperexcitability. This was not observed in mice with neuronal-targeted β1-integrin deletion, supporting the hypothesis that astrogliosis is sufficient to induce epileptic seizures. Whole-cell patch-clamp recordings from astrocytes further suggest that the heightened excitability was associated with impaired astrocytic glutamate uptake. Moreover, the relative expression of the cation-chloride cotransporters (CCC) NKCC1 (Slc12a2) and KCC2 (Slc12a5), which are responsible for establishing the neuronal Cl− gradient that governs GABAergic inhibition were altered and the NKCC1 inhibitor bumetanide eliminated seizures in a subgroup of mice. These data suggest that a shift in the relative expression of neuronal NKCC1 and KCC2, similar to that observed in immature neurons during development, may contribute to astrogliosis-associated seizures. PMID:25716834

  2. Reduced susceptibility to induced seizures in the Neuroligin-3(R451C) mouse model of autism.

    PubMed

    Hill-Yardin, Elisa L; Argyropoulos, Andrew; Hosie, Suzanne; Rind, Gil; Anderson, Paul; Hannan, Anthony J; O'Brien, Terence J

    2015-03-01

    Epilepsy is a common comorbidity in patients with autism spectrum disorder (ASD) and several gene mutations are associated with both of these disorders. In order to determine whether a point mutation in the gene for the synaptic protein, Neuroligin-3 (Nlgn3, R451C), identified in patients with ASD alters seizure susceptibility, we administered the proconvulsant pentylenetetrazole (PTZ) to adult male Neuroligin-3(R451C) (NL3(R451C)) and wild type (WT) mice. It has previously been reported that NL3(R451C) mice show altered inhibitory GABAergic activity in brain regions relevant to epilepsy, including the hippocampus and somatosensory cortex. PTZ administration induces absence-seizures at low dose, and generalised convulsive seizures at higher dose. Susceptibility to absence seizures was examined by analysing the frequency and duration of spike-and-wave discharge (SWD) events and accompanying motor seizure activity induced by subcutaneous administration of low dosage (20 or 30mg/kg) PTZ. Susceptibility to generalised convulsive seizures was tested by measuring the response to high dosage (60mg/kg) PTZ using a modified Racine scale. There was no change in the number of SWD events exhibited by NL3(R451C) compared to WT mice following administration of both 20mg/kg PTZ (1.17±0.31 compared to 16.0±11.16 events/30min, NL3(R451C) versus WT, respectively) and 30mg/kg PTZ (7.5±6.54 compared with 27.8±19.9 events/30min, NL3(R451C) versus WT, respectively). NL3(R451C) mice were seizure resistant to generalised convulsive seizures induced by high dose PTZ compared to WT littermates (median latency to first >3s duration clonic seizure; 14.5min versus 7.25min, 95% CI: 1.625-2.375, p=0.0009, NL3(R451C) versus WT, respectively). These results indicate that the R451C mutation in the Nlgn3 gene, associated with ASD in humans, confers resistance to induced seizures, suggesting dysfunction of PTZ-sensitive GABAergic signalling in this mouse model of ASD. PMID:25592157

  3. Absence status associated with focal activity and polydipsia-induced hyponatremia

    PubMed Central

    Azuma, Hideki; Akechi, Tatsuo; Furukawa, Toshi A

    2008-01-01

    We report a case of de novo absence status associated with focal discharge and polydipsia-induced hyponatremia. Nonconvulsive status epilepticus (NCSE) is classified as absence status or complex partial status. Absence status is characterized by bilateral synchronized spike and wave complex bursts and a variety of conscious disturbances. Possible precipitating factors for NCSE include benzodiazepine withdrawal, excessive use of psychotropic drugs, and electrolyte imbalances. Hyponatremia is a rare precipitating factor. In this case, the patient was 59 years old and had suffered from primary insomnia but had no history of epilepsy. NCSE improved by means of saline infusion. However after recovery from NCSE EEG revealed some spikes in the left frontal area. Absence seizures can also show generalized spike and slow waves, and cases of focal lesion-associated absence seizures have been reported. Although absence seizures and absence status are two distinct conditions, they should not be considered together. We assumed that hyponatremia induced by polydipsia precipitated epileptogenicity in the left frontal area, and then focal activity secondarily generalized and resulted in absence status. PMID:18728738

  4. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

    PubMed

    de Roo, Marieke G A; Abeling, Nico G G M; Majoie, Charles B; Bosch, Annet M; Koelman, Johannes H T M; Cobben, Jan M; Duran, Marinus; Poll-The, Bwee Tien

    2014-03-01

    An infant carrying a heterozygous c.43_46delACTA and a heterozygous c.668 G>A mutation in the ALPL gene with hypophosphatasia in the absence of bone deformities presented with therapy-resistant seizures. Pyridoxal phosphate was extremely high in CSF and plasma. Pyridoxine treatment had only a transient effect and the severe encephalopathy was fatal. Repeated brain MRIs showed progressive cerebral damage. The precise metabolic cause of the seizures remains unknown and pyridoxine treatment apparently does not cure the epilepsy. PMID:24100244

  5. Predictive value of induction of psychogenic seizures by suggestion.

    PubMed

    Lancman, M E; Asconapé, J J; Craven, W J; Howard, G; Penry, J K

    1994-03-01

    Induction by suggestion has previously been reported to be effective in the diagnosis of psychogenic seizures (PS). However, the sensitivity and specificity of this procedure has not previously been studied. Results of induction of PS by suggestion were analyzed in 93 patients with purely PS. The diagnosis of PS was based on the recording of a clinical event on video-electroencephalography, the absence of clinical or electroencephalography the absence of clinical or electroencephalographic evidence of epilepsy, and the subsequent followup and withdrawal of anticonvulsants supporting the diagnosis of PS. A control-group was composed of 20 patients with epilepsy in which induction was tried. Both groups were comparable for age, sex, and educational level. Induction was performed following a standardized protocol. The test was carried out placing a colored patch on the neck. The test was considered positive when the induced clinical events were typical, according to a witness familiar with the patient's seizures. Induction was positive in 72 of 93 cases with PS and in none with epilepsy. Sensitivity of this test for the diagnosis of PS was 77.4%, specificity 100%, positive predictive value 100%, and negative predictive value 48.7%. PMID:8122889

  6. Focal cooling rapidly terminates experimental neocortical seizures.

    PubMed

    Yang, X F; Rothman, S M

    2001-06-01

    The efficacy of surgical resection for epilepsy is considerably lower for neocortical epilepsy than for temporal lobe epilepsy. We have explored focal cooling with a thermoelectric (Peltier) device as a potential therapy for neocortical epilepsy. After creating a cranial window in anesthetized rats, we induced seizures by injecting artificial cerebrospinal fluid containing 4-aminopyridine (4-AP), a potassium channel blocker. Within 30 minutes of 4-AP injection, animals developed recurrent seizures (duration 85.7 +/- 26.2 seconds; n = 10 rats) that persisted for 2 hours. When a small Peltier device cooled the exposed cortical surface to 20-25 degrees C at seizure onset, the seizure duration was reduced to 8.4 +/- 5.0 seconds (n = 10 rats; p < 0.001). When the Peltier device was placed close to the cortical surface, but not allowed to make physical contact, there was no effect on seizure duration (104.3 +/- 20.7 seconds; p > 0.05 compared to control). Interestingly, the duration of uncooled seizures was reduced after we allowed the cortex to rewarm from prior cooling. Histological examination of the cortex after cooling has shown no evidence of acute or delayed neuronal injury, and blood pressure and temperature remained stable. It may be possible to use Peltier devices for cortical mapping or, when seizure detection algorithms improve, for chronic seizure control. PMID:11409423

  7. Treatment of drug-induced seizures.

    PubMed

    Chen, Hsien-Yi; Albertson, Timothy E; Olson, Kent R

    2016-03-01

    Seizures are a common complication of drug intoxication, and up to 9% of status epilepticus cases are caused by a drug or poison. While the specific drugs associated with drug-induced seizures may vary by geography and change over time, common reported causes include antidepressants, stimulants and antihistamines. Seizures occur generally as a result of inadequate inhibitory influences (e.g., gamma aminobutyric acid, GABA) or excessive excitatory stimulation (e.g. glutamate) although many other neurotransmitters play a role. Most drug-induced seizures are self-limited. However, status epilepticus occurs in up to 10% of cases. Prolonged or recurrent seizures can lead to serious complications and require vigorous supportive care and anticonvulsant drugs. Benzodiazepines are generally accepted as the first line anticonvulsant therapy for drug-induced seizures. If benzodiazepines fail to halt seizures promptly, second line drugs include barbiturates and propofol. If isoniazid poisoning is a possibility, pyridoxine is given. Continuous infusion of one or more anticonvulsants may be required in refractory status epilepticus. There is no role for phenytoin in the treatment of drug-induced seizures. The potential role of ketamine and levetiracetam is promising but not established. PMID:26174744

  8. 43 CFR 3.16 - Seizure.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 43 Public Lands: Interior 1 2013-10-01 2013-10-01 false Seizure. 3.16 Section 3.16 Public Lands: Interior Office of the Secretary of the Interior PRESERVATION OF AMERICAN ANTIQUITIES § 3.16 Seizure. Any object of antiquity taken, or collection made, on lands owned or controlled by the United States,...

  9. 43 CFR 3.16 - Seizure.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 43 Public Lands: Interior 1 2012-10-01 2011-10-01 true Seizure. 3.16 Section 3.16 Public Lands: Interior Office of the Secretary of the Interior PRESERVATION OF AMERICAN ANTIQUITIES § 3.16 Seizure. Any object of antiquity taken, or collection made, on lands owned or controlled by the United States,...

  10. 43 CFR 3.16 - Seizure.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 43 Public Lands: Interior 1 2011-10-01 2011-10-01 false Seizure. 3.16 Section 3.16 Public Lands: Interior Office of the Secretary of the Interior PRESERVATION OF AMERICAN ANTIQUITIES § 3.16 Seizure. Any object of antiquity taken, or collection made, on lands owned or controlled by the United States,...

  11. 43 CFR 3.16 - Seizure.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Seizure. 3.16 Section 3.16 Public Lands: Interior Office of the Secretary of the Interior PRESERVATION OF AMERICAN ANTIQUITIES § 3.16 Seizure. Any object of antiquity taken, or collection made, on lands owned or controlled by the United States,...

  12. 43 CFR 3.16 - Seizure.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 43 Public Lands: Interior 1 2014-10-01 2014-10-01 false Seizure. 3.16 Section 3.16 Public Lands: Interior Office of the Secretary of the Interior PRESERVATION OF AMERICAN ANTIQUITIES § 3.16 Seizure. Any object of antiquity taken, or collection made, on lands owned or controlled by the United States,...

  13. Search and Seizure in the Schools

    ERIC Educational Resources Information Center

    Staros, Kari; Williams, Charles F.

    2007-01-01

    The Fourth Amendment to the U.S. Constitution protects the people of the United States from unreasonable searches and seizures. On first reading, these protections seem clearly defined. The amendment was meant to protect Americans from the kinds of random searches and seizures that the colonists experienced under British colonial rule. Under…

  14. Seizure prediction for therapeutic devices: A review.

    PubMed

    Gadhoumi, Kais; Lina, Jean-Marc; Mormann, Florian; Gotman, Jean

    2016-02-15

    Research in seizure prediction has come a long way since its debut almost 4 decades ago. Early studies suffered methodological caveats leading to overoptimistic results and lack of statistical significance. The publication of guidelines addressing mainly the question of performance evaluation and statistical validation in seizure prediction helped revising the status of the field. While many studies failed to prove that above chance prediction is possible by applying these guidelines, other studies were successful. Methods based on EEG analysis using linear and nonlinear measures were reportedly successful in detecting preictal changes and using them to predict seizures above chance. In this review, we present a selection of studies in seizure prediction published in the last decade. The studies were selected based on the validity of the methods and the statistical significance of performance results. These results varied between studies and many showed acceptable levels of sensitivity and specificity that could be appealing for therapeutic devices. The relatively large prediction horizon and early preictal changes reported in most studies suggest that seizure prediction may work better in closed loop seizure control devices rather than as seizure advisory devices. The emergence of a large database of annotated long-term EEG recordings should help prospective assessment of prediction methods. Some questions remain to be addressed before large clinical trials involving seizure prediction can be carried out. PMID:26099549

  15. Seizure phenotypes, periodicity, and sleep-wake pattern of seizures in Kcna-1 null mice.

    PubMed

    Wright, Samantha; Wallace, Eli; Hwang, Youngdeok; Maganti, Rama

    2016-02-01

    This study was undertaken to describe seizure phenotypes, natural progression, sleep-wake patterns, as well as periodicity of seizures in Kcna-1 null mutant mice. These mice were implanted with epidural electroencephalography (EEG) and electromyography (EMG) electrodes, and simultaneous video-EEG recordings were obtained while animals were individually housed under either diurnal (LD) condition or constant darkness (DD) over ten days of recording. The video-EEG data were analyzed to identify electrographic and behavioral phenotypes and natural progression and to examine the periodicity of seizures. Sleep-wake patterns were analyzed to understand the distribution and onset of seizures across the sleep-wake cycle. Four electrographically and behaviorally distinct seizure types were observed. Regardless of lighting condition that animals were housed in, Kcna-1 null mice initially expressed only a few of the most severe seizure types that progressively increased in frequency and decreased in seizure severity. In addition, a circadian periodicity was noted, with seizures peaking in the first 12h of the Zeitgeber time (ZT) cycle, regardless of lighting conditions. Interestingly, seizure onset differed between lighting conditions where more seizures arose out of sleep in LD conditions, whereas under DD conditions, the majority occurred out of the wakeful state. We suggest that this model be used to understand the circadian pattern of seizures as well as the pathophysiological implications of sleep and circadian disturbances in limbic epilepsies. PMID:26724401

  16. Triheptanoin in acute mouse seizure models.

    PubMed

    Thomas, Nicola K; Willis, Sarah; Sweetman, Lawrence; Borges, Karin

    2012-05-01

    Triheptanoin, the triglyceride of heptanoate, is used to treat certain hereditary metabolic diseases in USA because of its anaplerotic potential. In two chronic mouse seizure models this clear tasteless oil was found to be reproducibly anticonvulsant. Here we investigated the effects of triheptanoin feeding in C3H and CD1 mice using standard acute seizure models. Feeding 30-40% triheptanoin (caloric intake) consistently elevated blood propionyl-carnitines, but inconsistent anticonvulsant effects were observed in the fluorothyl, pentylenetetrazole and 6Hz seizure models. A 2mA consistent increase in the maximal electroshock threshold was found after 3 weeks of 35% triheptanoin feeding (p=0.018). In summary, triheptanoin shows a unique anticonvulsant profile in seizure models, compared to other treatments that are in the clinic. Therefore, despite small and/or inconsistent effects of triheptanoin in acute seizure models, triheptanoin remains of interest as a potential add-on treatment for patients with medically refractory epilepsy. PMID:22260920

  17. The many etiologies of neonatal hypocalcemic seizures.

    PubMed

    Levy-Shraga, Yael; Dallalzadeh, Keren; Stern, Keren; Paret, Gideon; Pinhas-Hamiel, Orit

    2015-03-01

    Seizures during the neonatal period have a broad differential diagnosis. Unlike in developing countries where hypovitaminosis D and hypocalcemia constitutes a major cause of infantile seizures, the number of neonatal seizures attributed to hypocalcemia in developed countries has decreased dramatically due to the improvement of infant formulas and vitamin D supplementation. In these countries, most infants that present with hypocalcemic seizures have underlying endocrinological etiologies rather than dietary insufficiencies. Here, we describe 3 cases of neonatal seizures due to hypocalcemia. Although the symptoms and calcium concentrations at presentation were similar in all 3 cases, the course of the disease and the final diagnosis for each were distinct. The cases are presented along with a brief review of the pathophysiology, differential diagnosis, and treatment of neonatal hypocalcemia. PMID:25738238

  18. Atypical fractures, a biased perspective.

    PubMed

    Aspenberg, Per

    2016-01-01

    When stress fractures started to show up in the femurs of elderly ladies, it was soon evident that bisphosphonate use lay behind, and the absolute risk increase due to bisphosphonate use was reasonably well estimated already in 2008. Thereafter followed a period of confusion: the term atypical fracture was introduced, with a definition so vague that the true stress fractures tended to disappear in a cloud of ambiguity. This cast doubt on the association with bisphosphonates. The association was then re-established by large epidemiological studies based on radiographic adjudication. Atypical fractures are largely caused by bisphosphonates. With a correct indication, bisphosphonates prevent many more fractures than they cause, at least during the first years of use. With an incorrect indication they are likely to cause more harm than good. PMID:26768286

  19. Are rats with genetic absence epilepsy behaviorally impaired?

    PubMed

    Vergnes, M; Marescaux, C; Boehrer, A; Depaulis, A

    1991-07-01

    Absence seizures in humans are characterized by unresponsiveness to external stimuli and inactivity. However, in typical generalized non-convulsive epilepsy in children, intellectual capacities are considered to be normal. Wistar rats from an inbred strain with spontaneous absence-like seizures were compared with rats from the outbred control strain in various behavioral tasks in order to detect possible impairments related either to the absence epilepsy or to occurrence of spike and wave discharges (SWD). Spontaneous circadian locomotion, exploratory activity in an open field, social interactions with an unfamiliar conspecific and mouse killing behavior were similar in both strains. Avoidance learning in a shuttle box or food reinforced learning in a Skinner test were unimpaired or even improved in epileptic rats. During performance of a learned task either in the Skinner box or in a conditioned sound-bar pressing task, SWD were suppressed in epileptic rats as long as they were working for reinforcement. SWD reappeared when the motivation to perform the task had declined: unresponsiveness to a conditioned stimulus was then observed during SWD. These data are in agreement with observations commonly described in children with typical genetic absence epilepsy. PMID:1794357

  20. Neuronal Ensemble Synchrony during Human Focal Seizures

    PubMed Central

    Ahmed, Omar J.; Harrison, Matthew T.; Eskandar, Emad N.; Cosgrove, G. Rees; Madsen, Joseph R.; Blum, Andrew S.; Potter, N. Stevenson; Hochberg, Leigh R.; Cash, Sydney S.

    2014-01-01

    Seizures are classically characterized as the expression of hypersynchronous neural activity, yet the true degree of synchrony in neuronal spiking (action potentials) during human seizures remains a fundamental question. We quantified the temporal precision of spike synchrony in ensembles of neocortical neurons during seizures in people with pharmacologically intractable epilepsy. Two seizure types were analyzed: those characterized by sustained gamma (∼40–60 Hz) local field potential (LFP) oscillations or by spike-wave complexes (SWCs; ∼3 Hz). Fine (<10 ms) temporal synchrony was rarely present during gamma-band seizures, where neuronal spiking remained highly irregular and asynchronous. In SWC seizures, phase locking of neuronal spiking to the SWC spike phase induced synchrony at a coarse 50–100 ms level. In addition, transient fine synchrony occurred primarily during the initial ∼20 ms period of the SWC spike phase and varied across subjects and seizures. Sporadic coherence events between neuronal population spike counts and LFPs were observed during SWC seizures in high (∼80 Hz) gamma-band and during high-frequency oscillations (∼130 Hz). Maximum entropy models of the joint neuronal spiking probability, constrained only on single neurons' nonstationary coarse spiking rates and local network activation, explained most of the fine synchrony in both seizure types. Our findings indicate that fine neuronal ensemble synchrony occurs mostly during SWC, not gamma-band, seizures, and primarily during the initial phase of SWC spikes. Furthermore, these fine synchrony events result mostly from transient increases in overall neuronal network spiking rates, rather than changes in precise spiking correlations between specific pairs of neurons. PMID:25057195

  1. Tardive or Atypical Tourette's Disorder in a Population with Down Syndrome?

    ERIC Educational Resources Information Center

    Myers, Beverly; Pueschel, Siegfried M.

    1995-01-01

    In a population of 425 individuals with Down's syndrome, 5 persons (1.2%) were identified as having Tourette's disorder. The lack of interrelationship between Down's syndrome and Tourette's disorder argues against an atypical Tourette's disorder. Diagnoses of tardive Tourette's disorder were based on absence of family history of Tourette's, late…

  2. Atypical centrioles during sexual reproduction

    PubMed Central

    Avidor-Reiss, Tomer; Khire, Atul; Fishman, Emily L.; Jo, Kyoung H.

    2015-01-01

    Centrioles are conserved, self-replicating, microtubule-based, 9-fold symmetric subcellular organelles that are essential for proper cell division and function. Most cells have two centrioles and maintaining this number of centrioles is important for animal development and physiology. However, how animals gain their first two centrioles during reproduction is only partially understood. It is well established that in most animals, the centrioles are contributed to the zygote by the sperm. However, in humans and many animals, the sperm centrioles are modified in their structure and protein composition, or they appear to be missing altogether. In these animals, the origin of the first centrioles is not clear. Here, we review various hypotheses on how centrioles are gained during reproduction and describe specialized functions of the zygotic centrioles. In particular, we discuss a new and atypical centriole found in sperm and zygote, called the proximal centriole-like structure (PCL). We also discuss another type of atypical centriole, the “zombie” centriole, which is degenerated but functional. Together, the presence of centrioles, PCL, and zombie centrioles suggests a universal mechanism of centriole inheritance among animals and new causes of infertility. Since the atypical centrioles of sperm and zygote share similar functions with typical centrioles in somatic cells, they can provide unmatched insight into centriole biology. PMID:25883936

  3. Atypical centrioles during sexual reproduction.

    PubMed

    Avidor-Reiss, Tomer; Khire, Atul; Fishman, Emily L; Jo, Kyoung H

    2015-01-01

    Centrioles are conserved, self-replicating, microtubule-based, 9-fold symmetric subcellular organelles that are essential for proper cell division and function. Most cells have two centrioles and maintaining this number of centrioles is important for animal development and physiology. However, how animals gain their first two centrioles during reproduction is only partially understood. It is well established that in most animals, the centrioles are contributed to the zygote by the sperm. However, in humans and many animals, the sperm centrioles are modified in their structure and protein composition, or they appear to be missing altogether. In these animals, the origin of the first centrioles is not clear. Here, we review various hypotheses on how centrioles are gained during reproduction and describe specialized functions of the zygotic centrioles. In particular, we discuss a new and atypical centriole found in sperm and zygote, called the proximal centriole-like structure (PCL). We also discuss another type of atypical centriole, the "zombie" centriole, which is degenerated but functional. Together, the presence of centrioles, PCL, and zombie centrioles suggests a universal mechanism of centriole inheritance among animals and new causes of infertility. Since the atypical centrioles of sperm and zygote share similar functions with typical centrioles in somatic cells, they can provide unmatched insight into centriole biology. PMID:25883936

  4. Viscum Album in the Treatment of a Girl With Refractory Childhood Absence Epilepsy.

    PubMed

    von Schoen-Angerer, Tido; Madeleyn, René; Kienle, Gunver; Kiene, Helmut; Vagedes, Jan

    2015-07-01

    Viscum album (European mistletoe) extracts have known immunomodulatory effects but little data exist on anticonvulsant activity despite its usefulness having been reported for centuries. A 4½-year-old girl with childhood absence epilepsy and global developmental delay was treated with different antiepileptic drugs and ketogenic diet but failed to become seizure free over a 2-year period. She also received different herbal remedies as part of an integrative medicine approach. Initial improvement occurred on valproate-ethosuximide, a further improvement was seen after adding clobazam to valproate. Final cessation of absence activity occurred after a dose increase of V album. She was still seizure free at the 12-month follow-up. V album appears to have been a necessary adjunct treatment for this child to become seizure free. We call on physicians to report their experiences of V album in epilepsy and suggest further study. PMID:25038133

  5. Unexceptional seizure potential of tramadol or its enantiomers or metabolites in mice.

    PubMed

    Raffa, Robert B; Stone, Dennis J

    2008-05-01

    Tramadol is one of the most widely used centrally acting analgesics worldwide. Because of its multimodal analgesic mechanism (opioid plus nonopioid), the adverse effects profile of tramadol, similar to its analgesic profile, can be atypical compared with single-mechanism opioid analgesics. The comparison is often favorable (e.g., less respiratory depression or abuse), but it is sometimes cited as unfavorable in regard to seizure potential. As part of a broader study of this analgesic, we compared seizure induction in mice produced by administration of tramadol, the enantiomers and metabolites [M1 (O-desmethyl tramadol), M2 (N-desmethyl tramadol), M3 (N,N-didesmethyl tramadol), M4 (O,N,N-tridesmethyl tramadol), and M5 (O,N-didesmethyl tramadol)] of tramadol, and opioid and nonopioid reference compounds. We found that tramadol, its enantiomers, and M1 to M5 metabolites were of intermediate potency in this endpoint (on either a milligram per kilogram or millimole per kilogram basis). The SD50 (estimated dose required to induce seizures in 50% of test group) of tramadol to antinociceptive ED50 ratio was almost identical to that of codeine. The enantiomers of tramadol were about equipotent to tramadol on this endpoint. The M1 to M5 metabolites (and M1 enantiomers) of tramadol were less potent than tramadol. The relative potency of tramadol to opioids was not altered by quinidine (an inhibitor of CYP4502D6), noxious stimulus (48 degrees C hot-plate), multiple dosing, or in reserpinized mice. Tramadol seizures were increased by naloxone, principally at high tramadol doses and due to an effect on the (-)enantiomer that overcame the opposite effect on the (+)enantiomer. No synergistic effect on seizure induction was observed between concomitant tramadol and codeine or morphine. PMID:18292293

  6. Efficacy of lacosamide by focal seizure subtype.

    PubMed

    Sperling, Michael R; Rosenow, Felix; Faught, Edward; Hebert, David; Doty, Pamela; Isojärvi, Jouko

    2014-10-01

    The purpose of this post hoc exploratory analysis was to determine the effects of the antiepileptic drug, lacosamide, on focal (partial-onset) seizure subtypes. Patient data from the three lacosamide pivotal trials were grouped and pooled by focal seizure subtype at Baseline: simple partial seizures (SPS), complex partial seizures (CPS), and secondarily generalized partial seizures (SGPS). Both efficacy outcomes (median percent change from Baseline to Maintenance Phase in seizure frequency per 28 days and the proportion of patients experiencing at least a 50% reduction in seizures) were evaluated by lacosamide dose (200, 400, or 600 mg/day) compared to placebo for each seizure subtype. An additional analysis was performed to determine whether a shift from more severe focal seizure subtypes to less severe occurred upon treatment with lacosamide. In patients with CPS or SGPS at Baseline, lacosamide 400 mg/day (maximum recommended daily dose) and 600 mg/day reduced the frequency of CPS and SGPS compared to placebo. Likewise, a proportion of patients with CPS and SGPS at Baseline experienced at least a 50% reduction in the frequency of CPS and SGPS (≥50% responder rate) in the lacosamide 400 and 600 mg/day groups compared with placebo. For both outcomes, numerically greatest responses were observed in the lacosamide 600 mg/day group among patients with SGPS at Baseline. In patients with SPS at Baseline, no difference between placebo and lacosamide was observed for either efficacy outcome. An additional exploratory analysis suggests that in patients with SPS at Baseline, CPS and SGPS may have been shifted to less severe SPS upon treatment with lacosamide. The results of these exploratory analyses revealed reductions in CPS and SGPS frequency with adjunctive lacosamide. Reduction in CPS and SGPS may confound assessment of SPS since the CPS or SGPS may possibly change to SPS by effective treatment. PMID:25082395

  7. ATPergic signalling during seizures and epilepsy.

    PubMed

    Engel, Tobias; Alves, Mariana; Sheedy, Caroline; Henshall, David C

    2016-05-01

    Much progress has been made over the last few decades in the identification of new anti-epileptic drugs (AEDs). However, 30% of epilepsy patients suffer poor seizure control. This underscores the need to identify alternative druggable neurotransmitter systems and drugs with novel mechanisms of action. An emerging concept is that seizure generation involves a complex interplay between neurons and glial cells at the tripartite synapse and neuroinflammation has been proposed as one of the main drivers of epileptogenesis. The ATP-gated purinergic receptor family is expressed throughout the brain and is functional on neurons and glial cells. ATP is released in high amounts into the extracellular space after increased neuronal activity and during chronic inflammation and cell death to act as a neuro- and gliotransmitter. Emerging work shows pharmacological targeting of ATP-gated purinergic P2 receptors can potently modulate seizure generation, inflammatory processes and seizure-induced brain damage. To date, work showing the functional contribution of P2 receptors has been mainly performed in animal models of acute seizures, in particular, by targeting the ionotropic P2X7 receptor subtype. Other ionotropic P2X and metabotropic P2Y receptor family members have also been implicated in pathological processes following seizures such as the P2X4 receptor and the P2Y12 receptor. However, during epilepsy, the characterization of P2 receptors was mostly restricted to the study of expressional changes of the different receptor subtypes. This review summarizes the work to date on ATP-mediated signalling during seizures and the functional impact of targeting the ATP-gated purinergic receptors on seizures and seizure-induced pathology. This article is part of the Special Issue entitled 'Purines in Neurodegeneration and Neuroregeneration'. PMID:26549853

  8. Biotelemetry system for Epilepsy Seizure Control

    SciTech Connect

    Smith, LaCurtise; Bohnert, George W.

    2009-07-02

    The Biotelemetry System for Epilepsy Seizure Control Project developed and tested an automated telemetry system for use in an epileptic seizure prevention device that precisely controls localized brain temperature. This project was a result of a Department of Energy (DOE) Global Initiatives for Proliferation Prevention (GIPP) grant to the Kansas City Plant (KCP), Argonne National Laboratory (ANL), and Pacific Northwest National Laboratory (PNNL) to partner with Flint Hills Scientific, LLC, Lawrence, KS and Biophysical Laboratory Ltd (BIOFIL), Sarov, Russia to develop a method to help control epileptic seizures.

  9. Hallervorden–Spatz Syndrome with Seizures

    PubMed Central

    Gothwal, Sunil; Nayan, Swati

    2016-01-01

    Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam. The CT scan showed tiger eye appearance and mutations on PANK2 gene. PMID:27303611

  10. Hallervorden-Spatz Syndrome with Seizures.

    PubMed

    Gothwal, Sunil; Nayan, Swati

    2016-04-01

    Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam. The CT scan showed tiger eye appearance and mutations on PANK2 gene. PMID:27303611