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Article

A novel ATP1A3 mutation with unique clinical presentation.

Journal of the neurological sciences - 15 Jun 2014

Rosewich Hendrik, Baethmann Martina, Ohlenbusch Andreas, Gärtner Jutta, Brockmann Knut

Abstract excerpt

Mutations in the ATP1A3 gene are associated with rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) as well as RDP/AHC intermediate presentations. Phenotypic diversity is being recognized. In order to identify ATP1A3-related phenotypes not meeting the classical criteria for RDP or AHC we lowered the threshold for mutation analysis in clinical presentations resembling AHC or RDP....

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Identifiers

PMID: 24713507
DOI: 10.1016/j.jns.2014.03.034

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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