ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. - Mattison KA; Tossing G; Mulroe F; Simmons C; Butler KM; Schreiber A; Alsadah A; Neilson DE; Naess K; Wedell A; Wredenberg A; Sorlin A; et al. (Brain : a journal of neurology, 2023)