Citations for
1EPM7, KCNC1
Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
Barot N, Margiotta M, Nei M, Skidmore C.
Epileptic Disord. Sep 24. doi: 10.1684/epd.2020.1197. Online ahead of print. 2020
2EPM7, KCNC1
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF.
Ann Clin Transl Neurol. Jul;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1. 2019
3EPM7, KCNC1
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
Nat Genet. Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17 2015