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Article

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Developmental medicine and child neurology - 1 Nov 2012

Brashear Allison, Mink Jonathan W, Hill Deborah F, Boggs Niki, McCall W Vaughn, Stacy Mark A, Snively Beverly, Light Laney S, Sweadner Kathleen J, Ozelius Laurie J, Morrison Leslie

Abstract excerpt

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with...

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Identifiers

PMID: 22924536
DOI: 10.1111/j.1469-8749.2012.04421.x
PMCID: PMC3465467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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