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Article

A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.

The Journal of biological chemistry - 5 Nov 2004

Sancar Feyza, Czajkowski Cynthia

Abstract excerpt

A mutation in the gamma2 subunit of the gamma-aminobutyric acid (GABA) type A receptor (GABAR), which changes an arginine to a glutamine at position 43 (R43Q), is linked to familial idiopathic epilepsies. We used radioligand binding, immunoblotting, and immunofluorescence techniques to examine the properties of wild-type alpha1beta2gamma2 and mutant alpha1beta2gamma2R43Q GABARs expressed in HEK 293 cells. The...

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Identifiers

PMID: 15342642
DOI: 10.1074/jbc.M403388200

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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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