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

Cyrus Boelman, Ana Marissa Lagman-Bartolome, Daune L. MacGregor, Jane McCabe, Willam J. Logan, Berge A. Minassian

Research output: Contribution to journalArticle

12 Citations (Scopus)

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. 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.

Original languageEnglish (US)
Pages (from-to)850-853
Number of pages4
JournalPediatric Neurology
Volume51
Issue number6
DOIs
StatePublished - Jan 1 2014

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Dystonic Disorders
Phenotype
Mutation
Genes
Sodium-Potassium-Exchanging ATPase
Movement Disorders
Epigenomics
Alternating hemiplegia of childhood
Dystonia 12

Keywords

  • Alternating hemiplegia of childhood
  • ATP1A3
  • Genetics
  • Movement disorder
  • Rapid-onset dystonia parkinsonism
  • Topiramate

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. / Boelman, Cyrus; Lagman-Bartolome, Ana Marissa; MacGregor, Daune L.; McCabe, Jane; Logan, Willam J.; Minassian, Berge A.

In: Pediatric Neurology, Vol. 51, No. 6, 01.01.2014, p. 850-853.

Research output: Contribution to journalArticle

Boelman, Cyrus ; Lagman-Bartolome, Ana Marissa ; MacGregor, Daune L. ; McCabe, Jane ; Logan, Willam J. ; Minassian, Berge A. / Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. In: Pediatric Neurology. 2014 ; Vol. 51, No. 6. pp. 850-853.
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AU - McCabe, Jane

AU - Logan, Willam J.

AU - Minassian, Berge A.

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