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Article

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.

Neurobiology of disease - 1 Feb 2013

Tian Mengnan, Mei Davide, Freri Elena, Hernandez Ciria C, Granata Tiziana, Shen Wangzhen, Macdonald Robert L, Guerrini Renzo

Abstract excerpt

The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel γ2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals carried a c.1329delC GABRG2 mutation resulting in a subunit [γ2S(S443delC)] with a modified and elongated carboxy-terminus that is different from that of the wildtype...

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Share to Electroencephalography
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, GABA-A

Source

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Identifiers

PMID: 23069679
DOI: 10.1016/j.nbd.2012.10.008
PMCID: PMC3762699

Genes

GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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