SLC32A1: One More Gene Contributing to the Solution of the Genetic Generalized Epilepsies Mystery

Idiopathic generalized epilepsies (IGEs) have a complex genetic architecture, and their familial segregation has traditionally been puzzling because variable generalized syndromes may appear in different individuals of the same family.1 Variable clinical expression and incomplete penetrance suggest that heterogeneous phenotypes might result from the combination of several genetic variants, accounting for the polygenic inheritance that seems to be at play. However, clinical evidence of the familial aggregation of IGEs from small families (few affected individuals) to large families (numerous subjects with epilepsies spread across several generations) indicates that a proportion of IGEs indeed have at least 1 major causative gene.1

Read article at journal's website

Related Articles


Your email address will not be published.