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Article

Mutations in GABAA receptor subunits associated with genetic epilepsies.

The Journal of physiology - 1 Jun 2010

Macdonald Robert L, Kang Jing-Qiong, Gallagher Martin J

Abstract excerpt

Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both...

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Source

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Identifiers

PMID: 20308251
DOI: 10.1113/jphysiol.2010.186999
PMCID: PMC2901974

Genes

GABRA1
GABRB3
GABRD
GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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