@article{a25447265dee4c8582679198805d4204,
title = "Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy",
keywords = "V-ATPase, epileptic encephalopathy, Caenorhabditis elegans disease modelling, organelle acidification, lysosomal disease, RENAL TUBULAR-ACIDOSIS, CATHEPSIN-D DEFICIENCY, VACUOLAR PROTON PUMP, V-ATPASE, H+-ATPASE, CAENORHABDITIS-ELEGANS, CUTIS LAXA, SUBUNIT, MUTATIONS, EXPRESSION, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "\{Italian Undiagnosed Dis Network\} and \{V-ATPase Consortium\} and Bott, \{Laura C.\} and Mitra Forouhan and Maria Lieto and Sala, \{Ambre J.\} and Ruth Ellerington and Johnson, \{Janel O.\} and Speciale, \{Alfina A.\} and Chiara Criscuolo and Alessandro Filla and David Chitayat and Ebba Alkhunaizi and Patrick Shannon and Nemeth, \{Andrea H.\} and Francesco Angelucci and Lim, \{Wooi Fang\} and Pasquale Striano and Federico Zara and Ingo Helbig and Mikko Muona and Carolina Courage and Anna-Elina Lehesjoki and Berkovic, \{Samuel F.\} and Fischbeck, \{Kenneth H.\} and Francesco Brancati and Morimoto, \{Richard I.\} and Wood, \{Matthew J. A.\} and Carlo Rinaldi",
year = "2021",
month = oct,
day = "1",
doi = "10.1093/braincomms/fcab245",
language = "English",
volume = "3",
journal = "Brain communications",
issn = "2632-1297",
publisher = "Oxford University Press on behalf of the Guarantors of Brain ",
number = "4",
}