Disease: Epilepsy, Generalized ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.010 GeneticVariation BEFREE Notably, the two mutations (Q1489K and L1649Q) that exhibited partial or complete loss of function are linked to typical FHM, whereas the gain-of-function mutation L263V occurred in a family having both FHM and a high incidence of generalized epilepsy. 18621678 2008