Disease: Infantile Severe Myoclonic Epilepsy ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
0.010 GeneticVariation BEFREE A relevant example is the pleiotropic R1648H mutation that can cause either mild GEFS+ or severe DS. 30659983 2019