Title: ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Authors: 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 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, Argili E, Sherr EH, Dobyns WB, Consortium GER, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A
Journal: Brain
Published: 2022-09-08