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Article

ATP1A3-Associated Paroxysmal Dystonia.

Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2024

Ledoux Mark S

Abstract excerpt

Background: ATP1A3 mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments. Case report: Video and clinical documentation is provided for a patient with a novel ATP1A3 mutation (GRCh38:19:41982028:C:A;NM_152296.5:c.1072G>T;p.Gly358Cys)....

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Identifiers

PMID: 39712145
DOI: 10.5334/tohm.975
PMCID: PMC11661010

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