Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy

Am J Med Genet A. 2008 Sep 15;146A(18):2421-3. doi: 10.1002/ajmg.a.32448.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • DNA Mutational Analysis
  • Epilepsies, Myoclonic / genetics*
  • Female
  • Frameshift Mutation*
  • Gene Expression
  • Humans
  • Male
  • 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