Condition: EPILEPSY, PROGRESSIVE MYOCLONIC 7
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.