In recent years, progress in understanding the genetic basis of idiopathic generalized epilepsies has proven challenging because of their complex inheritance pat- terns and genetic heterogeneity. Genetic polymor- phisms offer a convenient avenue for a better under- standing 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 chan- nels (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 polymor- phisms reported in idiopathic generalized epilepsy, and discusses their possible functional significance in the pathogenesis of seizures.

Genetic polymorphisms and idiopathic generalized epilepsies

VERROTTI DI PIANELLA, Alberto;
2007-01-01

Abstract

In recent years, progress in understanding the genetic basis of idiopathic generalized epilepsies has proven challenging because of their complex inheritance pat- terns and genetic heterogeneity. Genetic polymor- phisms offer a convenient avenue for a better under- standing 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 chan- nels (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 polymor- phisms reported in idiopathic generalized epilepsy, and discusses their possible functional significance in the pathogenesis of seizures.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11564/266843
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