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...

Descripción completa

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

Internet

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

Ejemplares similares