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. Butleer, Alison Schreiber, Adnan Alsadah, Derek E. Neeilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma Mccann, George J. Burghel, Beatriz Menendez, George E. Hoganson, Lorenzo D. Botto, Francis M. Filloux, Ángel Aledo-Serrano, Antonio Gil-NagelKatrina 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 Bjørg Hammer, Rikke S. Møller, 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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Fingerprint

Dive into the research topics of 'ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy'. Together they form a unique fingerprint.

Medicine & Life Sciences