Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

Brain Dev. 2014 Feb;36(2):183-4. doi: 10.1016/j.braindev.2013.09.001. Epub 2013 Sep 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chorea / complications
  • Chorea / diagnosis
  • Chorea / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Seizures / diagnosis
  • Seizures / etiology*
  • Seizures / genetics

Substances

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

Supplementary concepts

  • Paroxysmal nonkinesigenic dyskinesia