Variant: rs1565162623 

    present in Gene: KCNC1
    present in Chromosome: 11
    Position on Chromosome: 17771785
    Alleles of this Variant: A/G

rs1565162623 in KCNC1 gene and EPILEPSY, PROGRESSIVE MYOCLONIC 7 PMID 27629860 2016 Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 28380698 2017 Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.