Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report

Seizure. 2024 Apr:117:284-287. doi: 10.1016/j.seizure.2024.04.003. Epub 2024 Apr 4.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Epilepsy, Generalized* / genetics
  • Female
  • Humans
  • Male
  • Mutation
  • Ryanodine Receptor Calcium Release Channel* / genetics
  • Tachycardia, Ventricular* / diagnosis
  • Tachycardia, Ventricular* / genetics
  • Tachycardia, Ventricular* / physiopathology

Substances

  • Ryanodine Receptor Calcium Release Channel
  • RyR2 protein, human

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia