Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Epilepsia. 2009 Apr;50(4):953-6. doi: 10.1111/j.1528-1167.2009.02023.x. Epub 2009 Mar 9.

Abstract

SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age-related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Child
  • Child, Preschool
  • Confidence Intervals
  • DNA Mutational Analysis / methods
  • Electroencephalography / methods
  • Epilepsy, Generalized / complications
  • Epilepsy, Generalized / genetics*
  • Family Health*
  • Female
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Receptors, GABA-A / genetics
  • Seizures, Febrile / complications
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics*
  • Statistics, Nonparametric

Substances

  • GABRG2 protein, human
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • Receptors, GABA-A
  • SCN1A protein, human
  • Sodium Channels