@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",
}