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Article

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

The European journal of neuroscience - 1 Jul 2005

Krampfl Klaus, Maljevic Snezana, Cossette Patrick, Ziegler Elke, Rouleau Guy A, Lerche Holger, Bufler Johannes

Abstract excerpt

Juvenile myoclonic epilepsy (JME) belongs to the most common forms of hereditary epilepsy, the idiopathic generalized epilepsies. Although the mode of inheritance is usually complex, mutations in single genes have been shown to cause the disease in some families with autosomal dominant inheritance. The first mutation in a multigeneration JME family has been recently found in the alpha1-subunit of the GABAA...

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Source

Identifiers

PMID: 16029191
DOI: 10.1111/j.1460-9568.2005.04168.x

Genes

GABRA1

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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