SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers

Pediatr Neurol. 2017 Feb:67:111-112. doi: 10.1016/j.pediatrneurol.2016.11.008. Epub 2016 Dec 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Ataxia / genetics*
  • Child, Preschool
  • Disease Progression
  • Epilepsy, Benign Neonatal / genetics*
  • Humans
  • Male
  • NAV1.2 Voltage-Gated Sodium Channel / genetics*
  • Seizures / genetics*

Substances

  • NAV1.2 Voltage-Gated Sodium Channel
  • SCN2A protein, human

Supplementary concepts

  • Episodic Ataxia