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Article

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Jul 2002

Bianchi Matt T, Song Luyan, Zhang Helen, Macdonald Robert L

Abstract excerpt

The first mutations of the GABA(A) receptor channel linked to familial epilepsy in humans were reported recently (Baulac et al., 2001; Wallace et al., 2001). Preliminary functional analysis of alpha1beta2gamma2 GABA(A) receptors expressed in Xenopus oocytes suggested that the gamma2 subunit R43Q mutation abolished current enhancement by the benzodiazepine, diazepam, and that the gamma2 subunit K289M mutation...

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Identifiers

PMID: 12097483
PMCID: PMC6758211

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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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