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ATP6V0C Variants Impair V-ATPase Function Causing a Neurodevelopmental Disorder Often Associated with Epilepsy

Kari A. Mattison,Gilles Tossing,Fred Mulroe, Callum Simmons,Kameryn M. Butler, Alison Schreiber,Adnan Alsadah,Derek E. Neilson,Karin Naess,Anna Wedell,Anna Wredenberg,Arthur Sorlin,Emma McCann,George J. Burghel,Beatriz Menendez,George E. Hoganson,Lorenzo D. Botto,Francis M. Filloux,Angel Aledo-Serrano,Antonio Gil-Nagel,Katrina Tatton-Brown,Nienke E. Verbeek,Bert van der Zwaag,Kyrieckos A. Aleck, Andrew C. Fazenbaker,Jorune Balciuniene,Holly A. Dubbs,Eric D. Marsh,Kathryn Garber,Jakob Ek,Morten Duno,Christina E. Hoei-Hansen,Matthew A. Deardorff,Gordana Raca,Catherine Quindipan,Michele van Hirtum-Das,Jeroen Breckpot,Trine Bjorg Hammer,Rikke S. Moller,Andrea Whitney,Andrew G. L. Douglas,Mira Kharbanda,Nicola Brunetti-Pierri,Manuela Morleo,Vincenzo Nigro,Halie J. May,James X. Tao,Emanuela Argilli, Elliot H. Sherr,William B. Dobyns,Richard A. Baines,Jim Warwicker,J. Alex Parker,Siddharth Banka,Philippe M. Campeau,Andrew Escayg

Brain（2022）

Cited 11|Views77
Key words
V-ATPase,ATP6V0C,VMA3,epilepsy genetics,neurodevelopmental disorders
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