Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Parkinsonism Relat Disord. 2016 Sep:30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1.
No abstract available

Keywords: Alternating hemiplegia of childhood; Dystonia; Epilepsy; Fever; Rapid-onset dystonia-parkinsonism.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adolescent
  • Age of Onset
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / pathology
  • Female
  • Humans
  • Mutation / genetics*
  • Phenotype
  • Sodium-Potassium-Exchanging ATPase / genetics*

Substances

  • ATP1A3 protein, human
  • Sodium-Potassium-Exchanging ATPase