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Article

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 19 May 2026

Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L

Abstract excerpt

INTRODUCTION: ATP1A3-related neurological disorders show a broad spectrum of manifestations, usually with autosomal dominant transmission. Classical phenotypes include alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), and syndrome characterized by cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS). Additional rarer forms include...

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Identifiers

PMID: 42151635
DOI: 10.1007/s10072-026-09101-5
PMCID: PMC13183691

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ATP1A3

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