Muona M et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. PMID: 25401298.
Oliver KL et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol. 2017;81(5):677-689. doi: 10.1002/ana.24929. PMID: 28380698.
Park J et al. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7. PMID: 31353862; PMCID: PMC6649617.
Cameron JM et al. Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. Ann Clin Transl Neurol. 2019;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1. PMID: 31353855.
Poirier K et al. Loss of Function of KCNC1 is associated with intellectual disability without seizures. Eur J Hum Genet. 2017;25(5):560-564. doi: 10.1038/ejhg.2017.3. Epub 2017 Feb 1. PMID: 28145425.
Kim H et al. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. Brain Dev. 2018;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8. PMID: 29428275.
Zhang Y et al. A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. J Neurophysiol. 2021;126(2):532-539. doi: 10.1152/jn.00257.2021. Epub 2021 Jul 7. PMID: 34232791.
Barot N et al. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020;22(5):654-658. doi: 10.1684/epd.2020.1197. PMID: 32972906.
Li X et al. Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes. Ann Transl Med. 2021;9(18):1397. doi: 10.21037/atm-21-1885. PMID: 34733949.
Mahale RR et al. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy. Acta Neurol Belg. 2022;122(3):801-803. doi: 10.1007/s13760-021-01645-x. Epub 2021 Mar 16. PMID: 33725338.