rs28939683, KCNQ2

N. diseases: 3
Disease: Familial benign neonatal epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial benign neonatal epilepsy
CUI: C0220669
Disease: Familial benign neonatal epilepsy
0.010 GeneticVariation BEFREE To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy. 24586341 2014