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Article

Mice harboring the T316N variant in the GABAAR γ2 subunit exhibit sleep-related hypermotor epilepsy phenotypes and hypersynchronization in the thalamocortical pathway.

Experimental neurology - 1 Jun 2024

Jiang Yong-Li, Xia Liang, Zhao Jing-Jing, Zhou Hui-Min, Mi Dan, Wang Xuan, Wang Yuan-Yuan, Song Chang-Geng, Jiang Wen

Abstract excerpt

OBJECTIVE: Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy syndrome characterized by seizures that predominantly occur during sleep. The pathogenesis of these seizures remains unclear. We previously detected rare variants in GABRG2, which encodes the γ2 subunit of γ-aminobutyric acid type A receptor (GABAAR), in patients with SHE and demonstrated that these variants impaired GABAAR function in vitro....

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Source

Identifiers

PMID: 38604438
DOI: 10.1016/j.expneurol.2024.114775

Genes

GABRG2
SHE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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