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Article

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

Pediatric neurology - 1 Dec 2014

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

Abstract excerpt

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...

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PMID: 25439493
DOI: 10.1016/j.pediatrneurol.2014.08.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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