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

OBJECTIVE: 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. METHODS: We conducted whole-exome sequenc...

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Detalles Bibliográficos
Autores principales:	Mermer, Felicia, Poliquin, Sarah, Zhou, Shuizhen, Wang, Xiaodong, Ding, Yifeng, Yin, Fei, Shen, Wangzhen, Wang, Juexin, Rigsby, Kathryn, Xu, Dong, Mack, Taralynn, Nwosu, Gerald, Flamm, Carson, Stein, Matthew, Kang, Jing-Qiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472560/ https://www.ncbi.nlm.nih.gov/pubmed/35840120 http://dx.doi.org/10.1016/j.nbd.2022.105810

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