title: Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: cyrus.boelman@sickkids.ca.
authors.forename: Cyrus
authors.initials: C
authors.lastname: Boelman
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Ana Marissa
authors.initials: AM
authors.lastname: Lagman-Bartolome
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Daune L
authors.initials: DL
authors.lastname: MacGregor
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Jane
authors.initials: J
authors.lastname: McCabe
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Willam J
authors.initials: WJ
authors.lastname: Logan
authors.affiliation: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000328:Adult; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000209:etiology / Q000235:genetics*; D005260:Female; D054522:Group VI Phospholipases A2 / Q000172:deficiency* / Q000235:genetics; D006429:Hemiplegia / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020734:Parkinsonian Disorders / Q000209:etiology / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C488756:ATP1A3 protein, human; D054522:Group VI Phospholipases A2; D000254:Sodium-Potassium-Exchanging ATPase
keywords: ATP1A3; alternating hemiplegia of childhood; genetics; movement disorder; rapid-onset dystonia parkinsonism; topiramate