rs866242631, KCNT1

N. diseases: 2
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
CUI: C3554195
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
0.700 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
CUI: C3554195
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
0.700 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012