ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy von 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, Á, Gil-Nagel, A, Tatton-Brown, K, Verbeek, NE, van Hirtum-Das, M, Breckpot, J, Hammer, TB, Møller, RS, Whitney, A, Douglas, AGL, Kharbanda, M, Brunetti-Pierri, N, Morleo, M, Nigro, V, May, HJ, Tao, JX, Argili, E, Sherr, EH, Dobyns, WB, Consortium, GER, Baines, RA, Warwicker, J, Parker, JA, Banka, S, Campeau, PM, Escayg, A

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