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Article

Screening of GABA(A)-receptor gene mutations in primary dystonia.

European journal of neurology - 1 Oct 2007

Shang H, Lang D, Burgunder J-M, Kaelin-Lang A

Abstract excerpt

Several lines of evidence suggest that GABA-ergic neurotransmission plays a role in the pathogenesis of primary dystonia in humans. In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA(A) receptor...

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Source

Identifiers

PMID: 17880575
DOI: 10.1111/j.1468-1331.2007.01910.x

Genes

GABRA1
GABRG2
GABRB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17880575-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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