Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

Seizure. 2019 Feb;65:62-64. doi: 10.1016/j.seizure.2019.01.002. Epub 2019 Jan 2.
No abstract available

Keywords: Dravet syndrome; Early infantile epileptic encephalopathy; Movement disorder; Refractory epilepsy; SCN1A.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Electroencephalography
  • Genetic Association Studies
  • Humans
  • Male
  • NAV1.1 Voltage-Gated Sodium Channel / genetics*
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / physiopathology*

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy