Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel
Thorase 变异体与谷氨酸能神经传递缺陷有关,而这种缺陷可以通过 Perampanel 来挽救。
期刊:Science Translational Medicine
影响因子:14.6
doi:10.1126/scitranslmed.aah4985
Umanah, George K E; Pignatelli, Marco; Yin, Xiling; Chen, Rong; Crawford, Joshua; Neifert, Stewart; Scarffe, Leslie; Behensky, Adam A; Guiberson, Noah; Chang, Melissa; Ma, Erica; Kim, Jin Wan; Castro, Cibele C; Mao, Xiaobo; Chen, Li; Andrabi, Shaida A; Pletnikov, Mikhail V; Pulver, Ann E; Avramopoulos, Dimitrios; Bonci, Antonello; Valle, David; Dawson, Ted M; Dawson, Valina L