(Q28217195)

5

object named as

Ingrid E Scheffer

I. E. Scheffer

0 references

Samuel Berkovic

6

object named as

Samuel F Berkovic

S. F. Berkovic

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author name string

Louise A Harkin

2

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Robyn H Wallace

3

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John C Mulley

Eyelid myoclonia with typical absences: an epilepsy syndrome

4

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language of work or name

English

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publication date

January 2003

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1 January 2003

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published in

Brain

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volume

126

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issue

Pt 1

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1

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page(s)

230-40

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230-240

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Concepts of absence epilepsies: discrete syndromes or biological continuum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Epilepsies in twins: genetics of the major epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Genetic factors in spike-wave absences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Epidemiology of absence epilepsy. I. Concept and incidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Simultaneous recording of absence seizures with video tape and electroencephalography. A study of 374 seizures in 48 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWG018