SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

Neurology. 2006 Feb 28;66(4):606-7. doi: 10.1212/01.WNL.0000198504.41315.B1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Electroencephalography
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / physiopathology
  • Humans
  • Karyotyping
  • Male
  • Mutation*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Sequence Deletion*
  • Sodium Channels / genetics*
  • Status Epilepticus / physiopathology

Substances

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