Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.010 GeneticVariation BEFREE Scn8a(N1768D) mutant mice provide a model of epileptic encephalopathy that will be valuable for studying the in vivo effects of hyperactive Nav1.6 and the response to therapeutic interventions. 25227913 2015