rs118192203, KCNQ2

N. diseases: 2
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. 23440208 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.700 CausalMutation CLINVAR Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion. 18353052 2008