"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum

Seizure. 2019 Feb:65:129-130. doi: 10.1016/j.seizure.2019.01.020. Epub 2019 Jan 23.
No abstract available

Keywords: BHS; Epilepsy; Focal cortical dysplasia; Hyperventilation; SCN8A; SUDEP.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Breath Holding
  • Epilepsy / diagnosis*
  • Epilepsy / genetics*
  • Female
  • Humans
  • Infant
  • NAV1.6 Voltage-Gated Sodium Channel / genetics*

Substances

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