Novel epilepsy phenotype associated to a known SCN8A mutation

Seizure. 2019 Apr:67:15-17. doi: 10.1016/j.seizure.2019.01.017. Epub 2019 Mar 4.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Epilepsy / genetics*
  • Epilepsy / physiopathology*
  • Humans
  • Male
  • Mutation
  • NAV1.6 Voltage-Gated Sodium Channel / genetics*
  • Phenotype

Substances

  • NAV1.6 Voltage-Gated Sodium Channel
  • SCN8A protein, human