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Article

Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.

Epilepsia - 1 Aug 2017

Huang Xuan, Zhou Chengwen, Tian Mengnan, Kang Jing-Qiong, Shen Wangzhen, Verdier Kelienne, Pimenta Aurea, MacDonald Robert L

Abstract excerpt

OBJECTIVE: The mutant γ-aminobutyric acid type A (GABAA ) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). The mutation generates a premature stop codon that results in translation of a stable truncated and misfolded γ2 subunit that accumulates in neurons,...

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Source

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Identifiers

PMID: 28586508
DOI: 10.1111/epi.13810
PMCID: PMC5554098

Genes

GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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