Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy
ARV1神经元缺陷会导致常染色体隐性遗传性癫痫性脑病。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddw157
Palmer, Elizabeth E; Jarrett, Kelsey E; Sachdev, Rani K; Al Zahrani, Fatema; Hashem, Mais Omar; Ibrahim, Niema; Sampaio, Hugo; Kandula, Tejaswi; Macintosh, Rebecca; Gupta, Rajat; Conlon, Donna M; Billheimer, Jeffrey T; Rader, Daniel J; Funato, Kouichi; Walkey, Christopher J; Lee, Chang Seok; Loo, Christine; Brammah, Susan; Elakis, George; Zhu, Ying; Buckley, Michael; Kirk, Edwin P; Bye, Ann; Alkuraya, Fowzan S; Roscioli, Tony; Lagor, William R