Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.

Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, Shen W, Wang J, Rigsby K, Xu D, Mack T, Nwosu G, Flamm C, Stein M, Kang JQ. Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans. Neurobiology of disease. 2022 Oct 1;172(172). 105810 p. PMID: 35840120 [PubMed] PMCID: PMC9472560 NIHMSID: NIHMS1833449.

Abstract

Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment targets.