Acetazolamide responsive early-onset absence epilepsy and ataxia in a toddler with a KCNA2 genetic variant; a case report

Seizure. 2023 Aug:110:157-159. doi: 10.1016/j.seizure.2023.06.013. Epub 2023 Jun 18.
No abstract available

Keywords: Absence seizures; Acetazolamide; Ataxia; Genetic variant; KCNA2.

Publication types

  • Case Reports

MeSH terms

  • Acetazolamide* / therapeutic use
  • Ataxia
  • Child, Preschool
  • Epilepsy, Absence* / drug therapy
  • Epilepsy, Absence* / genetics
  • Humans
  • Kv1.2 Potassium Channel / genetics

Substances

  • Acetazolamide
  • KCNA2 protein, human
  • Kv1.2 Potassium Channel