Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation (Q28217195)

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scientific article (publication date: 2003)

Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

Language	Label	Description	Also known as
English	Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation	scientific article (publication date: 2003)	Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

Statements

scholarly article

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

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Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation (English)

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childhood absence epilepsy

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based on heuristic

inferred from title

1

object named as

C. Marini

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Ingrid Scheffer

5

object named as

Ingrid E Scheffer

I. E. Scheffer

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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

4

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language of work or name

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publication date

January 2003

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1 January 2003

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126

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Pt 1

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1

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230-40

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230-240

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Eyelid myoclonia with typical absences: an epilepsy syndrome

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Concepts of absence epilepsies: discrete syndromes or biological continuum?

1 reference

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

21 January 2018

Epilepsies in twins: genetics of the major epilepsy syndromes.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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/10.1093%2FBRAIN%2FAWG018

21 January 2018

Genetic factors in spike-wave absences.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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/10.1093%2FBRAIN%2FAWG018

21 January 2018

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

1 reference

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

21 January 2018

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/10.1093%2FBRAIN%2FAWG018

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Epidemiology of absence epilepsy. I. Concept and incidence.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Genome search for susceptibility loci of common idiopathic generalised epilepsies

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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/10.1093%2FBRAIN%2FAWG018

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Identifiers

10.1093/BRAIN/AWG018

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