Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes

Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.


Background: Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3.

Patient: We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation.

Results: Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case.

Conclusion: The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.

Keywords: ATP1A3; alternating hemiplegia of childhood; genetics; movement disorder; rapid-onset dystonia parkinsonism; topiramate.

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Dystonic Disorders / etiology
  • Dystonic Disorders / genetics*
  • Female
  • Group VI Phospholipases A2 / deficiency*
  • Group VI Phospholipases A2 / genetics
  • Hemiplegia / etiology
  • Hemiplegia / genetics*
  • Humans
  • Male
  • Mutation
  • Parkinsonian Disorders / etiology
  • Parkinsonian Disorders / genetics*
  • Sodium-Potassium-Exchanging ATPase / genetics*


  • ATP1A3 protein, human
  • Group VI Phospholipases A2
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • Alternating hemiplegia of childhood
  • Dystonia-Parkinsonism, Adult-Onset