Monogenic idiopathic epilepsies (Q35708106)

9 August 2017

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title

Monogenic idiopathic epilepsies (English)

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9 August 2017

6

Alexis Brice

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Michel Baulac

5

object named as

Michel Baulac

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9 August 2017

Isabelle Gourfinkel-An

1

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9 August 2017

Stéphanie Baulac

2

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9 August 2017

Rima Nabbout

3

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9 August 2017

Merle Ruberg

4

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9 August 2017

Eric LeGuern

7

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9 August 2017

1 April 2004

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9 August 2017

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9 August 2017

3

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9 August 2017

4

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9 August 2017

209-218

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Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

9 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Causes of epilepsy: contributions of the Rochester epidemiology project.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Febrile convulsions in a national cohort followed up from birth. II--Medical history and intellectual ability at 5 years of age.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Epidemiology of the epilepsies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Supporting evidence of a gene for partial epilepsy on 10q

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

1 reference

7 January 2021

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Benign familial neonatal-infantile seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Evidence of a third locus for benign familial convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Members of a nicotinic acetylcholine receptor gene family are expressed in different regions of the mammalian central nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Sensitivity of rat frontal cortical neurones to nicotine is increased by chronic administration of nicotine and by lesions of the nucleus basalis magnocellularis: comparison with numbers of [3H]nicotine binding sites

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial temporal lobe epilepsy: a common disorder identified in twins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Autosomal dominant partial epilepsy with auditory features: defining the phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mapping of genes predisposing to idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Genome search for susceptibility loci of common idiopathic generalised epilepsies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

The risk of epilepsy following febrile convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900706-9

7 January 2021

Factors prognostic of unprovoked seizures after febrile convulsions

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7 January 2021

Febrile seizures and epilepsy: the contributions of epidemiology

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7 January 2021

What types of epilepsy are preceded by febrile seizures? A population-based study of children.

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7 January 2021

Epilepsy diagnosis and localization in patients with antecedent childhood febrile convulsions

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7 January 2021

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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7 January 2021

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

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7 January 2021

Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus)

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7 January 2021

Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation

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7 January 2021

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

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7 January 2021

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

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7 January 2021

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

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7 January 2021

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

1 reference

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7 January 2021

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

1 reference

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7 January 2021

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

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7 January 2021

Hippocampal sclerosis in epilepsy and childhood febrile seizures

1 reference

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7 January 2021

Febrile seizures and hippocampal sclerosis: frequent and related findings in intractable temporal lobe epilepsy of childhood.

1 reference

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7 January 2021

Idiopathic familial temporal lobe epilepsy with febrile convulsions

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7 January 2021

Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis

1 reference

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7 January 2021

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

1 reference

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7 January 2021

Multiple assembly signals in gamma-aminobutyric acid (type A) receptor subunits combine to drive receptor construction and composition

1 reference

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7 January 2021

Developmental changes in human gamma-aminobutyric acidA receptor subunit composition.

1 reference

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7 January 2021

10.1016/S1474-4422(04)00706-9

Identifiers

DOI

1 reference

9 August 2017

1 reference