Disease: Drug Resistant Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205867
rs786205867
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1096063
Disease:
Drug Resistant Epilepsy 		0.010 GeneticVariation BEFREE A de novo KCND3 pathogenic variant (c.1174G > A, p.Val392Ile) was identified in a boy with refractory epilepsy, psychomotor regression, attention deficit, and visual decline. 30776697 2019