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1
First-ever, door-to-door cross-sectional representative study in Prey Veng province (Cambodia).
2011-06-02

Purpose:? To estimate the lifetime prevalence of epilepsy in Prey Veng province (Cambodia). Methods:? Door-to-door screening was performed using a random cluster survey whereby all people >1?year of age were screened for epilepsy by using a validated and standardized questionnaire for epilepsy in tropical countries. Suspected ...

PubMed

2
Grey matter heterotopia: an unusual association of intractable epilepsy.

Heterotopic grey matter is an abnormality of neuronal migration that has been reported in association with refractory epilepsy. In this study we reviewed the magnetic resonance (MR) imaging records of all patients undergoing MR scanning for evaluation of intractable epilepsy and identified sixteen patients who had grey matter ...

PubMed

3
Aggravation of absence seizure related to levetiracetam.
2011-06-14

Recent data have reported the effectiveness of levetiracetam (LVT) on generalized seizures. Among them, it seems that LVT can be successfully used to treat absence seizures. Many antiepileptic drugs (AEDs) have been occasionally reported to paradoxically aggravate some seizures. We retrospectively identified patients with aggravation of ...

PubMed

4
Microsensors and wireless system for monitoring epilepsy
2003-07-01

Epilepsy is a form of brain disorder caused by abnormal discharges of neurons. The most common manifestations of epilepsy are seizures which could affect visual, aural and motor abilities of a person. Absence epilepsy is a form of epilepsy common mostly in children. The most common ...

NASA Astrophysics Data System (ADS)

5
Growing up with epilepsy: A two-year investigation of cognitive development in children with new onset epilepsy
2008-09-10

PurposeTo characterize patterns and determinants of normal and abnormal cognitive development in children with new onset epilepsy compared to healthy controls.MethodsLongitudinal (2-year) cognitive growth was examined in 100 children, age 8-18 years, including healthy controls (n=48) and children with new onset epilepsy (n=52). Cognitive maturation was ...

PubMed Central

6
Genetics of complex neurological disease: Challenges and opportunities for modeling epilepsy in mice and rats
2009-08-06

Epilepsy is a complex neurological disease. Currently ~20 genetic variants are known to cause Mendelian forms of human epilepsy, leaving a vast heritability undefined with future hopes resting on candidate gene resequencing and/or large scale genome-wide association studies. Rodent models for genetically complex epilepsy have been ...

PubMed Central

7
Morphometric changes and molecular mechanisms in rat models of idiopathic generalized epilepsy with absence seizures.
2011-02-24

The idiopathic generalized epilepsies (IGEs), constituting approximately a quarter of all epilepsy cases, are presumed to arise primarily from genetic abnormalities. A minority of cases have been identified to be caused by mutations in a single gene, but in the vast majority, mutations in multiple genes are presumed to contribute to ...

PubMed

8
Delayed diagnosis of juvenile myoclonic epilepsy.
1992-06-01

Fifteen cases of juvenile myoclonic epilepsy (JME) were identified from one hundred and eighty consecutive patients referred to a new epilepsy clinic at St Thomas' Hospital between April 1989 and December 1990, a prevalence of 8.3%. Of these, only one was referred with a putative diagnosis of JME. Diagnosis of the other patients on ...

PubMed Central

9
Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.
2005-11-01

Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal ...

PubMed

10
LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
2011-07-28

One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2�10-year-old children, and these epilepsies are often ...

PubMed Central

11
Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures
2009-04-21

Mutations in doublecortin (DCX) are associated with intractable epilepsy in humans, due to a severe disorganization of the neocortex and hippocampus known as classical lissencephaly. However, the basis of the epilepsy in lissencephaly remains unclear. To address potential functional redundancy with murin Dcx, we targeted one of the closest homologues, ...

PubMed Central

12
Absence epilepsy: early prognostic signs.
1992-12-01

We have studied 124 children with typical absence epilepsy. The onset of symptoms was in 12% under 4 years, in 51% between 4-8 years and in 37% above 8 years. The F:M ratio was 2:1 in children under 4 years versus 1:1 above 8 years. Absences alone occurred in 82% and absences followed or preceded by generalized ...

PubMed

13
Clinical Trial for Childhood Absence Epilepsy Identifies Differences in Seizure Control and Side Effects

... or the child reached the maximal allowable or highest tolerated dose. The study�s primary outcome goal was ... segment of society, by people all over the world. Cincinnati Children�s Hospital Medical Center ( www.cincinnatichildrens.org ) ...

MedlinePLUS

14
Automatic Detection of Epileptiform Discharges in EEG Using ...
2001-10-25

... Electroencephalogram (EEG) is utilized to diagnose epilepsy by determining the presence or absence of epileptiform discharges (ED). ...

DTIC Science & Technology

15
Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.
2011-03-02

GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to ...

PubMed

16
Recurrence of childhood absence epilepsy as pyknolepsy in adolescence.
2011-09-01

A developmentally normal adolescent boy with a history of childhood absence epilepsy presented with recurrence of pyknolepsy after a seven-year period of remission. The characteristics of his EEG showed the same 3-Hz generalised spike-wave discharge as in his previous EEG in childhood. To our knowledge, this is the first case report describing recurrence ...

PubMed

17
Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.
2010-09-01

Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading ...

PubMed

18
The Relationship between Sleep and Epilepsy: The Effect on Cognitive Functioning in Children
2010-09-01

Aim: The purpose of this review was to examine the possible pathophysiological links between epilepsy, cognition, sleep macro- and microstructure, and sleep disorders to highlight the contributions and interactions of sleep and epilepsy on cognitive functioning in children with epilepsy. Method: PubMed was used as the medical database ...

ERIC Educational Resources Information Center

19
LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs.
2011-07-28

One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2-10-year-old children, and these epilepsies are often ...

PubMed

20
Relation of photosensitivity to epileptic syndromes.
1986-12-01

Photosensitivity is the most common mode of seizure precipitation. It is age-related, more frequent in females, and most often found in generalised epilepsies. Little is known about its relation to individual epileptic syndromes. This study on 1062 epileptic patients who had 4007 split screen video EEG investigations revealed that the relation to generalised ...

PubMed Central

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21
High-Frequency Oscillations and Seizure Generation in Neocortical Epilepsy
2004-07-01

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 ...

ERIC Educational Resources Information Center

22
Epilepsy surgery outcomes in temporal lobe epilepsy with a normal MRI
2009-04-06

SummaryPurposeTo determine the long-term efficacy of anterior temporal lobectomy for medically refractory temporal lobe epilepsy in patients with nonlesional magnetic resonance imaging (MRI).MethodsWe identified a retrospective cohort of 44 patients with a nonlesional modern �seizure protocol� MRI who underwent anterior temporal lobectomy for treatment ...

PubMed Central

23
[The epileptic syndromes in childhood].

BACKGROUND: The epileptic syndrome in childhood was described by The International League against Epilepsy (ILAE) for the evaluation and understanding purpose. They defined epilepsy, clinical symptoms and paraclinic manifestations, in relation with the age of onset and prognostic determinants. The etiological classification included the symptomatic group, ...

PubMed

24
Inverted fixation-off sensitivity in atypical benign partial epilepsy.
2008-04-01

Fixation-off sensitivity is an electroencephalographic phenomenon characterized by spike-and-wave discharges that only occur when central vision and fixation are eliminated. It is especially seen in children with Panayiotopoulos-type, early-onset, benign childhood occipital epilepsy or Gastaut type, late-onset, childhood occipital epilepsy. It can also be ...

PubMed

25
Predictive factors for a good prognosis following surgery for temporal lobe epilepsy: a cohort study in Spain.
2011-03-01

To investigate the outcome of temporal lobe epilepsy surgery and identify the variables which predict a good prognosis with respect to seizures in postoperative follow-up after two and four years. This retrospective study included 115 selected patients who underwent surgery for temporal lobe epilepsy between 1996 and 2007. In the ...

PubMed

26
Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association?
2010-05-14

We report an unusual association between idiopathic occipital epilepsy and childhood absence epilepsy in 2 pediatric patients. At first clinical and electroencephalographic evaluation, the patients presented the peculiar signs of idiopathic occipital epilepsy Gastaut type: focal sensory visual seizures, ...

PubMed

27
[Severity and epidemiology of myoclonic epilepsy].

The author first reviews the definition of myoclonia as an epileptic crisis differentiated from tonic crises and infantile spasms. He reviews the prevalence and incidence found in bibliographic data, under the following headings 1. Early myoclonic encephalopathy or neonatal myoclonic encephalopathy 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome. 3. West's syndrome. 4. ...

PubMed

28
Absence Seizure (Petit Mal Seizure)

... epilepsy - Focus on pregnancy (an evidence-based review): Teratogenesis and perinatal outcomes. Neurology. 2009;73:133. Seizure ...

MedlinePLUS

29
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
2010-08-19

Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large ...

PubMed

30
Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
2011-01-01

Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated ...

PubMed Central

31
TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
2010-09-10

Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large ...

PubMed Central

32
Innovative Approach to Predict, Prevent Seizures for Epileptics

is seeking companies interested in commercializing a unique method of identifying the neurological patterns, according to the Epilepsy Foundation of America. Epilepsy is one of the most common serious neurological neurological patterns between epileptic seizures and have discovered a method to identify biomarkers

E-print Network

33
Interictal EEG spikes identify the region of electrographic seizure onset in some, but not all, pediatric epilepsy patients

, pediatric epilepsy patients *Eric D. Marsh, *Bradley Peltzer, *Merritt W. Brown III, *Courtney Wusthoff, y of sharps and spikes, interictal epi- leptiform discharges (IEDs), in guiding epilepsy surgery in children of IEEG recorded from 19 children with intractable, mostly extra- temporal lobe epilepsy. Approximately 8

E-print Network

34
Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy
2008-08-23

SummaryIntroductionA crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype�phenotype correlation makes this task difficult. In the absence of much definitive ...

PubMed Central

35
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
2009-05-01

In a chemical mutagenesis screen, we identified the novel Scn8a8J allele of the gene encoding the neuronal voltage-gated sodium channel Nav1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Nav1.6. Electroencephalography (EEG) revealed ...

PubMed Central

36
PICK1 uncoupling from mGluR7a causes absence-like seizures
2008-07-20

Absence epilepsy is a neurological disorder that causes a recurrent loss of consciousness and generalized spike-and-wave discharges on an electroencephalogram (EEG). The role of metabotropic glutamate receptors (mGluRs) and associated scaffolding proteins in absence epilepsy has been unclear to date. We ...

PubMed Central

37
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
2007-05-01

Two siblings from a consanguineous Egyptian marriage showed an identical phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy, and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat (7;12)(q22;p13)pat in both affected children, suggesting a homozygous reciprocal balanced translocation. Each healthy parent was a carrier of ...

PubMed

38
Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions
2011-08-17

BackgroundPatients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.Methodology/Principal FindingsWe describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic ...

PubMed Central

39
Mutations in GABAA receptor subunits associated with genetic epilepsies
2010-06-01

Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy ...

PubMed Central

40
Teachers' knowledge about epilepsy and attitudes toward students with epilepsy: results of a national survey.
2006-01-06

The attitudes and epilepsy-related knowledge of teachers are an important component of the educational experiences of children with epilepsy. Unfortunately however, the exploration of teacher attitudes and knowledge has been extremely limited in the United States. This article describes a survey-based research study of the attitudes and ...

PubMed

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41
Challenges in the management of epilepsy in resource-poor countries.
2009-05-19

Of the 50 million people with epilepsy worldwide, around 80% reside in resource-poor countries, which are ill-equipped to tackle the enormous medical, social and economic challenges posed by epilepsy. The capability to identify people with epilepsy and provide cost-effective care is compromised by widespread ...

PubMed

42
On-off intermittency in time series of spontaneous paroxysmal activity in rats with genetic absence epilepsy
2006-12-15

In the present paper we consider the on-off intermittency phenomena observed in time series of spontaneous paroxysmal activity in rats with genetic absence epilepsy. The method to register and analyze the electroencephalogram with the help of continuous wavelet transform is also suggested.

Energy Citations Database

43
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike

, T. and Catterall, W.A. (2006) Reduced sodium current in GABAergic interneurons in a mouse model discharges and absence epilepsy in mice Ligia A. Papale1,2,{ , Barbara Beyer3,{ , Julie M. Jones4, Lisa M-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a8J heterozygotes and in heterozygotes for two

E-print Network

44
Epilepsy research 150 years after Darwin's theory of evolution.
2009-12-01

On February 12, 2009, we commemorated the 200th anniversary of Charles Darwin's birth and the 150th anniversary of the publication of the first edition of the 'On the origin of species'. Only in the sixth edition of the Origin Darwin explicitly stated that natural selection applied to the brain as to all other organs and contemporary epilepsy research plays an interesting role ...

PubMed

45
Cortical and subcortical contributions to absence seizure onset examined with EEG/fMRI
2010-06-26

In patients with idiopathic generalized epilepsies (IGE), bursts of generalized spike and wave discharges (GSWD) lasting ?2 seconds are considered absence seizures. The location of the absence seizures generators in IGEs is thought to involve interplay between various components of thalamo-cortical circuits; we have recently postulated ...

PubMed Central

46
A community study of the presence of anxiety disorder in people with epilepsy.
2007-05-25

Anxiety represents a major problem for people with epilepsy, and it is important to understand why it arises and how to reduce its potential debilitating and adverse effects. The aim of this study was to determine the prevalence of anxiety in a community-identified sample of people with epilepsy and to identify ...

PubMed

47
Living Well II: a review of progress since 2003.
2006-11-01

Epilepsy as an issue for the public health community has a relatively short history in the United States. Not since the 1970s, when Congress established the Commission for the Control of Epilepsy and Its Consequences and the publication of its formal report, "Plan for Nationwide Action on Epilepsy," has significant attention been paid ...

PubMed

48
Imaging of the epilepsies.
2005-01-28

Imaging of epilepsy patients is challenging, since epileptogenic lesions (defined as structural lesions causally related to the epilepsy syndrome) may be small and often do not change during life. Prior clinical information about the epilepsy syndrome and the semiology of the seizures is needed in order to plan the examination ...

PubMed

49
Idiopathic generalized epilepsies of adolescence.
2006-01-01

The prevalence of idiopathic generalized epilepsies (IGEs) has been assessed as being 15-20% of all epilepsies. The seizure types in IGEs are typical absences, myoclonic jerks, and generalized tonic-clonic seizures (TCS), alone or in varying combinations and with variable severity. The seizures tend to be more frequent on awakening and ...

PubMed

50
Dog epilepsy gene
2005-01-07

Scientists have now identified a genetic mutation responsible for epilepsy in dogs. Further research on dogs with this mutation might help researchers better understand how to treat or prevent seizures in humans with Lafora disease, according to the authors.

NSDL National Science Digital Library

51
Distinguishing childhood absence epilepsy patients from controls by the analysis of their background brain electrical activity.
2008-10-22

Background electroencephalography (EEG), recorded with scalp electrodes, in children with childhood absence epilepsy (CAE) and control individuals has been analyzed. We considered 5 CAE patients, all right-handed females and aged 6-8 years. The 15 control individuals had the same characteristics of the CAE ones, but presented a normal EEG. The EEG was ...

PubMed

52
Quantitative EEG analysis of the maturational changes associated with childhood absence epilepsy
2005-10-01

This study aimed to examine the background electroencephalography (EEG) in children with childhood absence epilepsy, a condition whose presentation has strong developmental links. EEG hallmarks of absence seizure activity are widely accepted and there is recognition that the bulk of inter-ictal EEG in this group is normal to the naked ...

NASA Astrophysics Data System (ADS)

53
Pregnancy and Epilepsy Medications

... of Epilepsy in Women | Hormones and Epilepsy | Birth Control for Women with Epilepsy | Genetics and Epilepsy | Epilepsy and Sexual Relationship | Pregnancy and ...

MedlinePLUS

54
Epilepsy and Women's Health Topics

... of Epilepsy in Women | Hormones and Epilepsy | Birth Control for Women with Epilepsy | Genetics and Epilepsy | Epilepsy and Sexual Relationship | Pregnancy and ...

MedlinePLUS

55
Epilepsy, cognition, and behavior: The clinical picture.
2011-01-01

Although epilepsy is defined by the occurrence of spontaneous epileptic seizures, a large body of evidence indicates that epilepsy is linked to a spectrum of behavioral, psychiatric, and cognitive disorders as well as to sudden death. Explanations for these associations include the following: (1) The effects of structural lesions that may impair the ...

PubMed

56
Genetic influences on myoclonic and absence seizures
2003-12-09

ObjectiveTo examine the relationship between genotype and phenotype in idiopathic generalized epilepsies (IGEs) using a novel approach that focuses on seizure type rather than syndrome.MethodsThe authors evaluated whether the genetic effects on myoclonic seizures differ from the genetic effects on absence seizures. For this purpose, they studied 34 ...

PubMed Central

57
Injuries in epilepsy: a review of its prevalence, risk factors, type of injuries and prevention
2009-11-16

Currently, there is intense clinical research into various aspects of the medical risks relating to epilepsy, including total and cause-specific mortality, accidents and injuries in patients with epilepsy and mortality related with seizures. Seizures occurring in precarious situations and resulting in injuries are still an important concern for patients ...

PubMed Central

58
NREM Arousal Parasomnias and Their Distinction from Nocturnal Frontal Lobe Epilepsy: A Video EEG Analysis
2009-12-01

Study Objectives.To describe the semiological features of NREM arousal parasomnias in detail and identify features that can be used to reliably distinguish parasomnias from nocturnal frontal lobe epilepsy (NFLE).Design.Systematic semiologial evaluation of parasomnias and NFLE seizures recorded on video-EEG monitoring.Patients.120 events (57 parasomnias, 63 ...

PubMed Central

59
Genetic complexity of absence seizures in substrains of C3H mice
2009-12-17

Absence epilepsy is a common form of idiopathic generalized epilepsy whose etiology is poorly understood due to genetic and phenotypic heterogeneity. The inbred mouse strain C3H/He exhibits spontaneous absence seizures characterized by spike and wave discharges (SWD) on the electroencephalogram concomitant with ...

PubMed Central

60
Voxel-based morphometry of unilateral temporal lobe epilepsy reveals abnormalities in cerebral white matter

Voxel-based morphometry of unilateral temporal lobe epilepsy reveals abnormalities in cerebral April 2004; accepted 5 May 2004 Voxel-based morphometric (VBM) investigations of temporal lobe epilepsy identified the expected abnormalities in hippocampus and extrahippocampal temporal lobe, as well as more

E-print Network

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61
Chronic disorders with episodic manifestations: focus on epilepsy and migraine
2006-02-01

Epilepsy and migraine are chronic neurological disorders with episodic manifestations that are commonly treated in neurological practice and frequently occur together. In this review we examine similarities and contrasts between these disorders, with focus on epidemiology and classification, temporal coincidence, triggers, and mechanistically based therapeutic overlap. This ...

PubMed Central

62
Idiopathic childhood occipital epilepsy of Gastaut: report of 12 patients.
2011-03-01

This study sought to present clinical and outcome data of patients with idiopathic childhood occipital epilepsy of Gastaut, to validate previously reported characteristics of this epilepsy. The study group was comprised of 12 affected children (three boys and nine girls), with a median age of onset at 10.3 years. Common ictal manifestations included ...

PubMed

63
Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy.
2011-07-11

Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy ...

PubMed

64
Altered functional connectivity in default mode network in absence epilepsy: a resting-state fMRI study.
2011-03-01

Dysfunctional default mode network (DMN) has been observed in various mental disorders, including epilepsy (see review Broyd et al. [2009]: Neurosci Biobehav Rev 33:279�296). Because interictal epileptic discharges may affect DMN, resting-state fMRI was used in this study to determine DMN functional connectivity in 14 healthy controls and 12 absence ...

PubMed

65
Do patients with absence epilepsy respond to ketogenic diets?
2010-07-20

Dietary therapies are established as beneficial for symptomatic generalized epilepsies such as Lennox-Gastaut syndrome; however, the outcome for idiopathic generalized epilepsy has never been specifically reported. The efficacy of the ketogenic and modified Atkins diet for childhood and juvenile absence epilepsy ...

PubMed

66
Explaining the Unexplained; Expecting the Unexpected: Where Are We With Sudden Unexpected Death in Epilepsy?

Sudden death is over 20 times more frequent in people with epilepsy than the general population. The literature on clinical risk factors is now able to define individuals at the highest risk. Despite these advances in our understanding of risk, the mechanism of sudden unexpected death in epilepsy remains elusive. While it is unlikely that a single ...

PubMed Central

67
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
2010-01-18

Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopathy, featuring microcephaly, developmental delay, and early-onset intractable epilepsy. Patients typically show also renal involvement from the onset. We report two siblings with GMS presenting with early-onset, intractable epilepsy and ...

PubMed

68
Curing epilepsy: Progress and future directions
2009-03-01

During the past decade, substantial progress has been made in delineating clinical features of the epilepsies and the basic mechanisms responsible for these disorders. Eleven human epilepsy genes have been identified and many more are now known from animal models. Candidate targets for cures are now based upon newly ...

PubMed Central

69
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
2007-07-24

A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. ...

PubMed

70
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
2010-05-01

We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe visual impairment, hypotonia, profound intellectual disability, and refractory epilepsy. The homozygous deletion of the genes within this deleted region provides a useful insight into the pathogenesis of the observed ...

PubMed

71
Adaptive changes in the pharmacodynamics of midazolam in different experimental models of epilepsy: kindling, cortical stimulation and genetic absence epilepsy
1998-10-01

The objective of this investigation was to determine quantitatively whether experimental epilepsy is associated with a change in the pharmacodynamics of benzodiazepines in vivo. For that purpose the pharmacodynamics of midazolam were quantified by an integrated pharmacokinetic-pharmacodynamic approach in three different models of experimental epilepsy: ...

PubMed Central

72
Frequency, prognosis and surgical treatment of structural abnormalities seen with magnetic resonance imaging in childhood epilepsy
2009-10-28

The epidemiology of lesions identified by magnetic resonance imaging (MRI), along with the use of pre-surgical evaluations and surgery in childhood-onset epilepsy patients has not previously been described. In a prospectively identified community-based cohort of children enrolled from 1993 to 1997, we examined (i) the frequency of ...

PubMed Central

73
Frequency, Prognosis and Surgical Treatment of Structural Abnormalities Seen with Magnetic Resonance Imaging in Childhood Epilepsy
2009-10-01

The epidemiology of lesions identified by magnetic resonance imaging (MRI), along with the use of pre-surgical evaluations and surgery in childhood-onset epilepsy patients has not previously been described. In a prospectively identified community-based cohort of children enrolled from 1993 to 1997, we examined (i) the frequency of ...

ERIC Educational Resources Information Center

74
Treatment of generalized epilepsies of childhood and adolescence with sodium valproate ("epilim").
1977-02-01

A total of 142 patients (84 per cent aged less than 20 years) with various forms of generalized epilepsy have been treated with sodium valproate alone or in combination with other drugs. The mean duration of symptoms was six years, and half the patients had daily seizures. Nine patients had typical absences, 33 had absences with ...

PubMed

75
Pattern sensitive epilepsy: a case report
1979-07-01

A child with pattern sensitive epilepsy is reported. She had both absences and generalised seizures. The latter occurred spontaneously but the former followed concentration on patterned materials. These self-induced seizures appeared to have an affective component. The EEG showed generalised atypical spike and wave discharges both in the resting state and ...

PubMed Central

76
Selective changes in thalamic and cortical GABAA receptor subunits in a model of acquired absence epilepsy in the rat

. Huntsman, M. M., Porcello, D. M., Homanics, G. E., DeLorey, T. M. & Huguenard, J. R. (1999). Reciprocal

E-print Network

77
PHENOMENOLOGY OF LIMBIC KINDLING

Kindling is a model of epilepsy whereby repeated administration of brief low intensity trains of electrical stimulation come to elicit electrographic and behavioral manifestations of seizure. n the absence of overt tissue damage, an animal that has been kindled is rendered in a p...

EPA Science Inventory

78
Cav2.3 channels are critical for oscillatory burst discharges in the reticular thalamus and absence epilepsy.
2011-04-14

Neurons of the reticular thalamus (RT) display oscillatory burst discharges that are believed to be critical for thalamocortical network oscillations related to absence epilepsy. Ca�+-dependent mechanisms underlie such oscillatory discharges. However, involvement of high-voltage activated (HVA) Ca�+ channels in this process has been discounted. We ...

PubMed

79
On the activity of the corticostriatal networks during spike-and-wave discharges in a genetic model of absence epilepsy.
2004-07-28

Absence seizures are characterized by impairment of consciousness associated with widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG), which reflect highly synchronized oscillations in thalamocortical networks. Although recent pharmacological studies suggest that the basal ganglia could provide a remote control system for ...

PubMed

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