A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.

CONCLUSIONS: This mutation caused instability of the mutant transporter protein, which resulted in reduced cell surface and total protein levels. The mutation also caused reduced GABA uptake in addition to reduced protein expression, leading to reduced GABA clearance, and altered GABAergic signaling in the brain. The impaired trafficking and reduced GABA uptake function may explain the epilepsy phenotype in the patient. PMID: 31176687 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31176687?dopt=Abstract

Source: Experimental Neurology - June 5, 2019 Category: Neurology Authors: Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW, Kang JQ Tags: Exp Neurol Source Type: research