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Article

A novel presentation of an ATP1A3 gene mutation - case report and literature review.

European review for medical and pharmacological sciences - 1 Feb 2022

Kostopoulou E, Avgeri A, Apostolou M I, Tzifas S, Dimitriou G

Abstract excerpt

OBJECTIVE: Mutations in the ATP1A3 gene cause the classical disorders of rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC) and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, intermediate phenotypes have also been described, making the range of clinical manifestations associated with mutations in the ATP1A3 gene wider. A...

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Identifiers

PMID: 35253165
DOI: 10.26355/eurrev_202202_28100

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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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