Genetic polymorphisms and idiopathic generalized epilepsies.
In recent years, progress in understanding the genetic basis of idiopathic generalized epilepsies has proven challenging because of their complex inheritance patterns and genetic heterogeneity. Genetic polymorphisms offer a convenient avenue for a better understanding of the genetic basis of idiopathic generalized epilepsy by providing evidence for the involvement of a given gene in these disorders, and by clarifying its pathogenetic mechanisms. Many of these genes encode for some important central nervous system ion channels (KCNJ10, KCNJ3, KCNQ2/KCNQ3, CLCN2, GABRG2, GABRA1, SCN1B, and SCN1A), while many others encode for ubiquitary enzymes that play crucial roles in various metabolic pathways (HP, ACP1, ME2, LGI4, OPRM1, GRIK1, BRD2, EFHC1, and EFHC2). We review the main genetic polymorphisms reported in idiopathic generalized epilepsy, and discusses their possible functional significance in the pathogenesis of seizures.
Lucarini
Nazzareno
N
Department of Molecular, Cellular, and Animal Biology, University of Camerino, Camerino, Italy. nazzareno.lucarini@unicam.it
Verrotti
Alberto
A
Napolioni
Valerio
V
Bosco
Guido
G
Curatolo
Paolo
P
D004829:Epilepsy, Generalized / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D053858:Metabolic Networks and Pathways / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics
D007473:Ion Channels; D011506:Proteins