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Am J Hum Genet
2002 Feb 01;702:530-6. doi: 10.1086/338710.
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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
Harkin LA
,
Bowser DN
,
Dibbens LM
,
Singh R
,
Phillips F
,
Wallace RH
,
Richards MC
,
Williams DA
,
Mulley JC
,
Berkovic SF
,
Scheffer IE
,
Petrou S
.
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Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABA(A)-receptor gamma2-subunit mutation was found. This mutation lies in the intracellular loop between the third and fourth transmembrane domains of the GABA(A)-receptor gamma2 subunit and introduces a premature stop codon at Q351 in the mature protein. GABA sensitivity in Xenopus laevis oocytes expressing the mutant gamma2(Q351X) subunit is completely abolished, and fluorescent-microscopy studies have shown that receptors containing GFP-labeled gamma2(Q351X) protein are retained in the lumen of the endoplasmic reticulum. This finding reinforces the involvement of GABA(A) receptors in epilepsy.
Alekov,
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.
2001, Pubmed
Alekov,
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.
2001,
Pubmed
Amladi,
Online Mendelian Inheritance in Man 'OMIM'.
2003,
Pubmed
Barnard,
International Union of Pharmacology. XV. Subtypes of gamma-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function.
1998,
Pubmed
Baulac,
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
2001,
Pubmed
,
Xenbase
Claes,
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
2001,
Pubmed
Connolly,
Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors.
1996,
Pubmed
,
Xenbase
Draguhn,
Functional and molecular distinction between recombinant rat GABAA receptor subtypes by Zn2+.
1990,
Pubmed
Escayg,
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
2000,
Pubmed
Escayg,
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
2001,
Pubmed
Kittler,
Analysis of GABAA receptor assembly in mammalian cell lines and hippocampal neurons using gamma 2 subunit green fluorescent protein chimeras.
2000,
Pubmed
Klausberger,
GABA(A) receptor assembly. Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits.
2000,
Pubmed
Moulard,
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.
1999,
Pubmed
Olsen,
GABA receptor function and epilepsy.
1999,
Pubmed
Scheffer,
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
1997,
Pubmed
Schwartzkroin,
GABA synapses enter the molecular big time.
1998,
Pubmed
Singh,
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
2001,
Pubmed
Singh,
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.
1999,
Pubmed
Stühmer,
Electrophysiologic recordings from Xenopus oocytes.
1998,
Pubmed
,
Xenbase
Sugawara,
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.
2001,
Pubmed
Verrall,
The N-terminal domains of acetylcholine receptor subunits contain recognition signals for the initial steps of receptor assembly.
1992,
Pubmed
Wallace,
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
1998,
Pubmed
,
Xenbase
Wallace,
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
2001,
Pubmed
Wallace,
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
2001,
Pubmed
