Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

Neurology. 2012 Aug 28;79(9):946-8. doi: 10.1212/WNL.0b013e318266fabf. Epub 2012 Aug 15.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics
  • Dystonia / etiology
  • Dystonia / genetics*
  • Dystonia / physiopathology
  • Family
  • Genotype
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mutation, Missense / physiology*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Penetrance
  • Triplets
  • Young Adult

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human
  • DNA

Supplementary concepts

  • Familial paroxysmal dystonia