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Article

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene - 30 Jul 2020

Boonsimma Ponghatai, Michael Gasser Marius, Netbaramee Wiracha, Wechapinan Thanin, Srichomthong Chalurmpon, Ittiwut Chupong, Wagner Matias, Krenn Martin, Zimprich Fritz, Abicht Angela, Biskup Saskia, Roser Timo, Borggraefe Ingo, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Mutations in the ATP1A3 gene are known to be the cause of three distinct neurological syndromes including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP) and cerebellar ataxia, arefexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS). Recent studies have suggested the broader diversity of ATP1A3-related disorders. This study aimed to...

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Identifiers

PMID: 32339621
DOI: 10.1016/j.gene.2020.144709

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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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