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

Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., … Escayg, A. (2022). ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 146(4), 1357–1372. https://doi.org/10.1093/brain/awac330
Authors:
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
Ángel 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 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
Affiliated Authors:
Halie J May
Columbia Affiliation:
Subjects:
Vacuolar Proton-Translocating ATPases (MeSH)
Epilepsy (MeSH)
Author Keywords:
atp6v0c
epilepsy genetics
neurodevelopmental disorders
v-atpase
vma3
elink
Publication Type:
Article
Unique ID:
10.1093/brain/awac330
PMID:
36074901
DOI:
10.1093/brain/awac330
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record

Record Created: