Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2)

J Neurol. 2004 Feb;251(2):232-4. doi: 10.1007/s00415-004-0299-1.
No abstract available

Publication types

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

MeSH terms

  • Acetazolamide / therapeutic use*
  • Adult
  • Anticonvulsants / therapeutic use*
  • Calcium Channels / genetics*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Chromosomes, Human, Pair 19 / genetics
  • Dizziness / drug therapy
  • Dizziness / genetics
  • Dizziness / physiopathology
  • Humans
  • Male
  • Mutation / genetics*
  • Ocular Motility Disorders / drug therapy
  • Ocular Motility Disorders / genetics
  • Ocular Motility Disorders / physiopathology
  • Pedigree
  • Spinocerebellar Degenerations / drug therapy*
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / physiopathology
  • Treatment Outcome

Substances

  • Anticonvulsants
  • CACNA1A protein, human
  • Calcium Channels
  • Acetazolamide