학술논문
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Document Type
Artikel
Author
Mattison, KA; Tossing, G; Mulroe, F; Simmons, C; Butler, KM; Schreiber, A; Alsadah, A; Neilson, DE; Naess, K; Wedell, A; Wredenberg, A; Sorlin, A; McCann, E; Burghel, GJ; Menendez, B; Hoganson, GE; Botto, LD; Filloux, FM; Aledo-Serrano, A; Gil-Nagel, A; Tatton-Brown, K; Verbeek, NE; van der Zwaag, B; Aleck, KA; Fazenbaker, AC; Balciuniene, J; Dubbs, HA; Marsh, ED; Garber, K; Ek, J; Duno, M; Hoei-Hansen, CE; Deardorff, MA; Raca, G; Quindipan, C; van Hirtum-Das, M; Breckpot, J; Hammer, TB; Moller, RS; Whitney, A; Douglas, AGL; Kharbanda, M; Brunetti-Pierri, N; Morleo, M; Nigro, V; May, HJ; Tao, JX; Argilli, E; Sherr, EH; Dobyns, WB; Baines, RA; Warwicker, J; Parker, JA; Banka, S; Campeau, PM; Escayg, A
Source
Brain : a journal of neurology. 146(4):1357-1372
Subject
Language
English
English
English
ISSN
1460-2156