A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A

Neurology. 2006 Sep 26;67(6):1094-5. doi: 10.1212/01.wnl.0000237322.04338.2b.

Abstract

We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.

Publication types

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

MeSH terms

  • Cohort Studies
  • DNA Mutational Analysis / methods
  • Epilepsies, Myoclonic / genetics*
  • Exons / genetics*
  • Gene Deletion*
  • Humans
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Sodium Channels / genetics*

Substances

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