PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

Neurology. 2013 Apr 16;80(16):1534-5. doi: 10.1212/WNL.0b013e31828cf7e1. Epub 2013 Mar 27.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Anticonvulsants / therapeutic use*
  • Athetosis / etiology
  • Athetosis / genetics
  • Carbamazepine / therapeutic use*
  • Child
  • China
  • Disease Progression
  • Dyskinesias / drug therapy*
  • Dyskinesias / genetics*
  • Dystonia / etiology
  • Dystonia / genetics
  • Female
  • Functional Laterality / physiology
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics
  • Mutation / physiology
  • Nerve Tissue Proteins / genetics*
  • Phenotype

Substances

  • Anticonvulsants
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human
  • Carbamazepine