CADASIL presenting with focal and generalised epilepsy due to a novel NOTCH3 mutation

Seizure. 2019 Mar:66:36-38. doi: 10.1016/j.seizure.2019.01.026. Epub 2019 Jan 30.
No abstract available

Keywords: CADASIL; Epilepsy; Genetic testing; NOTCH3; Stroke.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • CADASIL* / complications
  • CADASIL* / diagnosis
  • CADASIL* / genetics
  • Epilepsies, Partial* / diagnosis
  • Epilepsies, Partial* / etiology
  • Epilepsies, Partial* / genetics
  • Epilepsy, Generalized* / diagnosis
  • Epilepsy, Generalized* / etiology
  • Epilepsy, Generalized* / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Receptor, Notch3 / genetics*

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3