The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA).

ABSTRACT:

Background

Mutations in the γ-aminobutyric acid type A (GABA_A) receptor γ2 subunit gene, GABRG2, have been associated frequently with epilepsy syndromes with varying severities. Recently, a de novo GABRG2 mutation, c.T1027C, p.F343L, was identified in a patient with an early onset epileptic encephalopathy (EOEE). In vitro, we demonstrated that GABA_A receptors containing the mutant γ2(F343L) subunit have impaired trafficking to the cell surface. Here, we aim to validate an in vivo zebrafish model of EOEE associated with the GABRG2 mutation T1027C.

Methods

We generated a novel transgenic zebrafish (AB strain) that overexpressed mutant human γ2(F343L) subunits and provided an initial characterization of the transgenic Tg(

SUBMITTER: Shen D 

PROVIDER: S-EPMC7791267 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature