[Early onset epileptic encephalopathy in a patient with mutation in SCN8A]

Rev Neurol. 2017 Dec 16;65(12):572-574.
[Article in Spanish]

Abstract

Title: Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Amino Acid Substitution
  • Anticonvulsants / therapeutic use
  • Child, Preschool
  • Drug Resistant Epilepsy / drug therapy
  • Drug Resistant Epilepsy / genetics*
  • Drug Substitution
  • Electroencephalography
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Isoxazoles / therapeutic use
  • Male
  • Mutation, Missense
  • NAV1.6 Voltage-Gated Sodium Channel / genetics*
  • Phenytoin / therapeutic use
  • Point Mutation
  • Zonisamide

Substances

  • Anticonvulsants
  • Isoxazoles
  • NAV1.6 Voltage-Gated Sodium Channel
  • SCN8A protein, human
  • Zonisamide
  • Phenytoin