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Article

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

Human molecular genetics - 15 Aug 2006

Urak Lydia, Feucht Martha, Fathi Nahid, Hornik Kurt, Fuchs Karoline

Abstract excerpt

Childhood absence epilepsy (CAE) is considered to exhibit a complex non-Mendelian pattern of inheritance. So far, only few CAE susceptibility genes have been identified. In a previous study of our group, an association between the GABA(A) receptor beta3 subunit (GABRB3) gene and CAE was shown. To further investigate this association, we screened 45 CAE patients of the first study for mutations in the 10 exons,...

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Source

Identifiers

PMID: 16835263
DOI: 10.1093/hmg/ddl174

Genes

GABRB3

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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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