Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
ATP6V0A1 变异可导致进行性肌阵挛性癫痫以及发育性和癫痫性脑病
期刊:Brain Communications
影响因子:4.1
doi:10.1093/braincomms/fcab245
Laura C Bott, Mitra Forouhan, Maria Lieto, Ambre J Sala, Ruth Ellerington, Janel O Johnson, Alfina A Speciale, Chiara Criscuolo, Alessandro Filla, David Chitayat, Ebba Alkhunaizi, Patrick Shannon, Andrea H Nemeth; Italian Undiagnosed Diseases Network; Francesco Angelucci, Wooi Fang Lim, Pasquale Str
