Pediatric Neurology
Volume 37, Issue 3 , Pages 157-164, September 2007

Genetic Polymorphisms and Idiopathic Generalized Epilepsies

  • Nazzareno Lucarini, MSc

      Affiliations

    • Department of Molecular, Cellular, and Animal Biology, University of Camerino, Camerino, Italy
    • Corresponding Author InformationCommunications should be addressed to: Dr. Lucarini; Department of Molecular, Cellular and Animal Biology, University of Camerino; Via F. Camerini 2; 62032 Camerino (MC), Italy.
    • ,
  • Alberto Verrotti, MD

      Affiliations

    • Department of Pediatrics, University of Chieti, Chieti, Italy
    • ,
  • Valerio Napolioni, BS

      Affiliations

    • Department of Molecular, Cellular, and Animal Biology, University of Camerino, Camerino, Italy
    • ,
  • Guido Bosco, MD

      Affiliations

    • Department of Pediatrics, University of Chieti, Chieti, Italy
    • ,
  • Paolo Curatolo, MD

      Affiliations

    • Department of Pediatric Neurology and Department of Neurosciences, Tor Vergata University, Rome, Italy.

Received 22 January 2007; accepted 1 June 2007.

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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PII: S0887-8994(07)00262-7

doi:10.1016/j.pediatrneurol.2007.06.001

Pediatric Neurology
Volume 37, Issue 3 , Pages 157-164, September 2007

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