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Article

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.

European journal of neurology - 1 Jun 2025

Reyes Nikolai Gil D, Grippe Talyta, Callister Marcus, Abkur Tarig, Villanueva Emilio Q, Heung Tracy, Chen Robert, Boot Erik, Bassett Anne S, Lang Anthony E

Abstract excerpt

BACKGROUND AND PURPOSE: Movement disorders are increasingly recognized as late-occurring neurologic manifestations of 22q11.2 deletion syndrome (22q11.2DS). We aimed to dissect the spectrum of relevant movement disorders in 22q11.2DS, including clinical and electrophysiologic presentations and effective therapies. METHODS: Retrospective review of medical records, medication histories, and videotaped examinations...

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Identifiers

PMID: 40530538
DOI: 10.1111/ene.70256
PMCID: PMC12174967

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