Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

J Neurol. 2011 Feb;258(2):316-7. doi: 10.1007/s00415-010-5702-5. Epub 2010 Sep 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acetazolamide / therapeutic use*
  • Adolescent
  • Carbonic Anhydrase Inhibitors / therapeutic use*
  • Chorea / drug therapy*
  • Chorea / genetics
  • Female
  • Glucose Transporter Type 1 / deficiency*
  • Glucose Transporter Type 1 / genetics
  • Humans
  • Mutation, Missense

Substances

  • Carbonic Anhydrase Inhibitors
  • Glucose Transporter Type 1
  • Acetazolamide