A variant in SLC12A5 for a familial benign Rolandic epilepsy

Abstract

Benign Rolandic epilepsy (BRE) is the most common cause of in childhood. Childhood epilepsies have high heritability, and many BRE cases show an autosomal dominant inheritance pattern. Thanks to advancement genomics, causal genes were being elucidated. Although a genetic disorder, cannot be explained by known genes. Pleiotropy phenomenon related epilepsy. For example, same variant gene can diverse epileptic syndromes from mild Landau-Kleffner syndrome, severe form classified as idiopathic focal epilepsy, caused or loci generalized (IGE). Using whole exome sequencing, we tried find variants copy number variations for IGE. We found novel missense SLC12A5 familial BRE. IGE, it may BRE, because including