A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees

Parkinsonism Relat Disord. 2013 Jun;19(6):639-42. doi: 10.1016/j.parkreldis.2013.02.015. Epub 2013 Mar 23.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chorea / genetics*
  • DNA Mutational Analysis
  • Dystonia
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree*
  • Young Adult

Substances

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

Supplementary concepts

  • Familial paroxysmal dystonia