Genetic Polymorphisms and Idiopathic Generalized Epilepsies

Overview

Journal Pediatr Neurol

Specialties Neurology
Pediatrics

Date 2007 Sep 4

PMID 17765802

Citations 19

Authors

Nazzareno Lucarini

Alberto Verrotti

Valerio Napolioni

Guido Bosco

Paolo Curatolo

Affiliations

Soon will be listed here.

Abstract

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.

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