ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy

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Published inBrain (London, England : 1878)
Main 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, 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
Format Journal Article
LanguageEnglish
Published 2022
Subjects
Medicin och hälsovetenskap
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ISSN:1460-2156
DOI:10.1093/brain/awac330