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Article

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

The European journal of neuroscience - 1 Jul 2011

Lachance-Touchette Pamela, Brown Patricia, Meloche Caroline, Kinirons Peter, Lapointe Line, Lacasse Hélène, Lortie Anne, Carmant Lionel, Bedford Fiona, Bowie Derek, Cossette Patrick

Abstract excerpt

Epilepsy is a heterogeneous neurological disease affecting approximately 50 million people worldwide. Genetic factors play an important role in both the onset and severity of the condition, with mutations in several ion-channel genes being implicated, including those encoding the GABA(A) receptor. Here, we evaluated the frequency of additional mutations in the GABA(A) receptor by direct sequencing of the complete...

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Source

Identifiers

PMID: 21714819
DOI: 10.1111/j.1460-9568.2011.07767.x

Genes

GABRA1
GABRG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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