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Article

An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.

Human molecular genetics - 29 Sept 2022

Zhou Jing, Liang Wenpeng, Wang Jie, Chen Juan, Liu Dong, Wang Xin, Wu Youjia, Zhang Qi, Shen Dingding

Abstract excerpt

Mutations in the γ-aminobutyric acid type A (GABAA) receptor γ2 subunit gene, GABRG2, have been associated with a variety of epilepsy syndromes. A de novo mutation (c.T1027C, p.F343L) in GABRG2 was identified in a patient with early onset epileptic encephalopathy. Zebrafish overexpressing mutant human GABRG2 (F343L) subunits displayed spontaneous seizure activity and convulsive behaviors. In this study, we...

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Identifiers

PMID: 34957497
DOI: 10.1093/hmg/ddab338

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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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