Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

Seizure. 2015 Mar:26:69-71. doi: 10.1016/j.seizure.2015.01.017. Epub 2015 Feb 7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Electroencephalography
  • Electromyography
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Movement Disorders / diagnosis
  • Movement Disorders / genetics*
  • NAV1.6 Voltage-Gated Sodium Channel / genetics*
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / genetics*

Substances

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