SCN1A mutation associated with atypical Panayiotopoulos syndrome

Neurology. 2007 Aug 7;69(6):609-11. doi: 10.1212/01.wnl.0000266666.10404.53.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution*
  • Child
  • Electroencephalography
  • Epilepsies, Partial / classification
  • Epilepsies, Partial / genetics*
  • Female
  • Fever / etiology*
  • Genetic Predisposition to Disease
  • Heart Arrest / etiology*
  • Heterozygote
  • Humans
  • Mutation, Missense*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Point Mutation*
  • Sodium Channels / genetics*
  • Syndrome
  • Vomiting / etiology

Substances

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