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Article

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

Annals of neurology - 1 Jun 2006

Maljevic Snezana, Krampfl Klaus, Cobilanschi Joana, Tilgen Nikola, Beyer Susanne, Weber Yvonne G, Schlesinger Friedrich, Ursu Daniel, Melzer Werner, Cossette Patrick, Bufler Johannes, Lerche Holger, Heils Armin

Abstract excerpt

OBJECTIVE: To detect mutations in GABRA1 in idiopathic generalized epilepsy. METHODS: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells. RESULTS: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16718694
DOI: 10.1002/ana.20874

Genes

GABRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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