Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation

Seizure. 2017 Feb:45:189-191. doi: 10.1016/j.seizure.2016.12.020. Epub 2017 Jan 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Brain / drug effects
  • Brain / physiopathology
  • Calcium Channels / genetics*
  • Child
  • Drug Resistant Epilepsy / diagnosis
  • Drug Resistant Epilepsy / drug therapy
  • Drug Resistant Epilepsy / genetics*
  • Drug Resistant Epilepsy / physiopathology
  • Epilepsy / diagnosis
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / drug therapy
  • Epilepsy, Absence / genetics*
  • Epilepsy, Absence / physiopathology
  • Female
  • Humans
  • Mutation*
  • Phenotype
  • Pyridoxine / therapeutic use

Substances

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

Supplementary concepts

  • Pyridoxine-dependent epilepsy