ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
ATP6V0C 变异会损害 V-ATPase 功能，导致神经发育障碍，这种障碍通常与癫痫有关。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awac330
Mattison, Kari A; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J; Menendez, Beatriz; Hoganson, George E; Botto, Lorenzo D; Filloux, Francis M; Aledo-Serrano, Ángel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E; van der Zwaag, Bert; Aleck, Kyrieckos A; Fazenbaker, Andrew C; Balciuniene, Jorune; Dubbs, Holly A; Marsh, Eric D; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E; Deardorff, Matthew A; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjørg; Møller, Rikke S; Whitney, Andrea; Douglas, Andrew G L; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J; Tao, James X; Argilli, Emanuela; Sherr, Elliot H; Dobyns, William B; Baines, Richard A; Warwicker, Jim; Parker, J Alex; Banka, Siddharth; Campeau, Philippe M; Escayg, Andrew
