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Article

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Nature genetics - 1 Jun 2002

Cossette Patrick, Liu Lidong, Brisebois Katéri, Dong Haiheng, Lortie Anne, Vanasse Michel, Saint-Hilaire Jean-Marc, Carmant Lionel, Verner Andrei, Lu Wei-Yang, Wang Yu Tian, Rouleau Guy A

Abstract excerpt

Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit of the gamma-aminobutyric ac...

Read the complete abstract on PubMed

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Share to Amino Acid Substitution
Share to Child, Preschool
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Mutation, Missense

Share to Myoclonic Epilepsy, Juvenile

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Share to Receptors, GABA-A

Source

Identifiers

PMID: 11992121
DOI: 10.1038/ng885

Genes

GABRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11992121-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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