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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.
Targeting firing rate neuronal homeostasis can prevent seizures.
Mulroe F, Lin WH, Mackenzie-Gray Scott C, Aourz N, Fan YN, Coutts G, Parrish RR, Smolders I, Trevelyan A, Wykes RC, Allan S, Freeman S, Baines RA.
Mulroe F, et al.
Dis Model Mech. 2022 Oct 1;15(10):dmm049703. doi: 10.1242/dmm.049703. Epub 2022 Oct 10.
Dis Model Mech. 2022.
PMID: 36073607
Free PMC article.
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