rs727503973, KCNQ2

N. diseases: 2
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 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 23692823 2013
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.010 GeneticVariation BEFREE KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal-onset epileptic encephalopathy. 31199083 2019