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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
Epilepsy panel testing criteria: A clinical assessment.
Fazenbaker AC, Munro CD, Carlson JC, Durst AL, Vento JM.
Fazenbaker AC, et al.
J Genet Couns. 2024 Apr;33(2):352-360. doi: 10.1002/jgc4.1732. Epub 2023 May 28.
J Genet Couns. 2024.
PMID: 37246482
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