4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models

por Nwosu, Gerald, Mermer, Felicia, Flamm, Carson, Poliquin, Sarah, Shen, Wangzhen, Rigsby, Kathryn, Kang, Jing Qiong
Publicado 2022

GABA(A) Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox–Gastaut Syndrome

por Nwosu, Gerald Ikemefuna, Shen, Wangzhen, Zavalin, Kirill, Poliquin, Sarah, Randhave, Karishma, Flamm, Carson, Biven, Marshall, Langer, Katherine, Kang, Jing-Qiong
Publicado 2023

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

por 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
Publicado 2022

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

por Wang, Jie, Poliquin, Sarah, Mermer, Felicia, Eissman, Jaclyn, Delpire, Eric, Wang, Juexin, Shen, Wangzhen, Cai, Kefu, Li, Bing-Mei, Li, Zong-Yan, Xu, Dong, Nwosu, Gerald, Flamm, Carson, Liao, Wei-Ping, Shi, Yi-Wu, Kang, Jing-Qiong
Publicado 2020