Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A

Eur J Paediatr Neurol. 2011 Mar;15(2):155-7. doi: 10.1016/j.ejpn.2010.08.002. Epub 2010 Sep 1.

Abstract

Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Arachnoid Cysts / genetics*
  • Arachnoid Cysts / pathology
  • Autonomic Nervous System Diseases / genetics*
  • Autonomic Nervous System Diseases / metabolism
  • Child, Preschool
  • Epilepsies, Partial / genetics*
  • Epilepsies, Partial / metabolism
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Sodium Channels / genetics*
  • Syndrome
  • Twins / genetics

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels