Do mutations in SCN1B cause Dravet syndrome?

Epilepsy Res. 2013 Jan;103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20.

Abstract

A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / epidemiology
  • Epilepsies, Myoclonic / genetics*
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Sequence Analysis, DNA / methods
  • Voltage-Gated Sodium Channel beta-1 Subunit / genetics*

Substances

  • SCN1B protein, human
  • Voltage-Gated Sodium Channel beta-1 Subunit