Phenotypes, genotypes, and the management of paroxysmal movement disorders

Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30.


As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis. Antiepileptic drugs remain the treatment of choice for PKD and episodic ataxia type 1, benzodiazepines are often useful for PNKD, and episodic ataxia type 2 benefits from acetazolamide regardless of the genetic etiology.

What the paper adds: A growing number of genes have been associated with classic and newly described paroxysmal movement disorders. Paroxysmal movement disorders share common mechanisms and clinical features with other neurological paroxysmal phenomena including epilepsy and migraine.

Publication types

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

MeSH terms

  • Anticonvulsants / therapeutic use
  • Disease Management*
  • Genetic Predisposition to Disease / genetics
  • Genotype*
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Movement Disorders* / genetics
  • Movement Disorders* / physiopathology
  • Movement Disorders* / therapy
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Phenotype*


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