Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

Dev Med Child Neurol. 2012 Oct;54(10):958-60. doi: 10.1111/j.1469-8749.2012.04394.x. Epub 2012 Jul 31.


PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. The index patient's father had PKD and migraine with aphasia, and his two brothers had hemiplegic migraine with onset in childhood. All four family members had the same PRRT2 c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Child, Preschool
  • Chromosome Duplication
  • DNA Mutational Analysis*
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Epilepsy, Benign Neonatal / diagnosis
  • Epilepsy, Benign Neonatal / genetics*
  • Female
  • Follow-Up Studies
  • Genotype
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Migraine with Aura / diagnosis
  • Migraine with Aura / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / genetics*
  • Torticollis / diagnosis
  • Torticollis / genetics*


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

Supplementary concepts

  • Familial paroxysmal dystonia