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Article

Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Human genetics - 1 Sept 2009

Ashmore Lesley J, Hrizo Stacy L, Paul Sarah M, Van Voorhies Wayne A, Beitel Greg J, Palladino Michael J

Abstract excerpt

Mutations affecting the Na(+), K(+) ATPase alpha subunit have been implicated in at least two distinct human diseases, rapid-onset dystonia Parkinsonism (RDP), and familial hemiplegic migraine (FHM). Over 40 mutations have been mapped to the human ATP1A2 and ATP1A3 genes and are known to result in RDP, FHM or a variant of FHM with neurological complications. To develop a genetically tractable model system for...

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Identifiers

PMID: 19455355
DOI: 10.1007/s00439-009-0673-2
PMCID: PMC2791699

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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