[PRRT2 gene-related paroxysmal disorders]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):595-9. doi: 10.3760/cma.j.issn.1003-9406.2014.01.012.
[Article in Chinese]

Abstract

Proline-rich transmembrane protein 2 (PRRT2), the causative gene of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS) and infantile convulsions with paroxysmal choreoathetosis (ICCA), also causes a variety of neurological paroxysmal disorders. These diseases share the same characteristics which may be due to the same genetic defect. We therefore propose to name them as PRRT2-related paroxysmal disorders (PRPDs) in order to assist clinical diagnosis, treatment and prognosis. This paper has reviewed the clinical phenotype, common features and pathogenesis of the PRPDs.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chorea / genetics*
  • Epilepsy, Benign Neonatal / genetics*
  • Family Health
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Mutation*
  • Nerve Tissue Proteins / genetics*

Substances

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

Supplementary concepts

  • Paroxysmal nonkinesigenic dyskinesia