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Article

The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.

Journal of the neurological sciences - 15 Nov 2021

Lax Daniel N, Bieri Phyllis, Patel Puja

Abstract excerpt

BACKGROUND: ATP1A3-related disorders are rare but increasingly recognized syndromes with overlapping phenotypes. CLINICAL OBSERVATIONS: A male child and his mother with c.2452G>A (p.Glu818Lys) mutation and an unrelated child with c.2428A>T (p.Ile810Phe) mutation in the ATP1A3 gene are reported. RESULTS: The first child presented with fever-induced flaccid unresponsiveness and the diagnosis was made after...

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Identifiers

PMID: 34655904
DOI: 10.1016/j.jns.2021.120003

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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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