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Article

A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties.

Neuropharmacology - 1 Apr 2004

Fisher Janet L

Abstract excerpt

A genetic component is associated with the development of many forms of epilepsy. Recently, mutations in the GABAA receptor have been linked to several inherited epilepsies. One of these mutations is a non-conservative change of alanine to aspartate in the third transmembrane domain of the alpha1 subunit. To determine the functional consequences of this alteration, mutated alpha subunits were transiently...

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PMID: 14996540
DOI: 10.1016/j.neuropharm.2003.11.015

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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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