In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation

Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation / genetics*
  • NAV1.2 Voltage-Gated Sodium Channel / genetics*
  • Seizures / genetics*
  • Seizures / pathology

Substances

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