ATP6V0C

Publications

Ittiwut C et al. Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability. Brain Dev. 2021;43(3):490-494. PMID: 33190975.

Mattison KA et al. ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2022: awac330. PMID: 36074901.

Mucha BE et al. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med. 2019;21(9):2159-2160. PMID: 30643220.

Tian Y et al. ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus. Front Mol Neurosci. 2022;15:889534. PMID: 35600075.