Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.

doi:10.1016/j.eplepsyres.2006.12.001

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Article

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.

Epilepsy research - 1 Apr 2007

Hempelmann Anne, Cobilanschi Joana, Heils Armin, Muhle Hiltrud, Stephani Ulrich, Weber Yvonne, Lerche Holger, Sander Thomas

Abstract excerpt

PURPOSE: Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE). The present population-based association study tested whether the C-allele...

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Identifiers

PMID: 17215107
DOI: 10.1016/j.eplepsyres.2006.12.001

Genes

GABRB3

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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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