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Article

Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.

Clinical genetics - 1 Dec 2025

Amato María Eugenia, Frías Marcos, Cerisola Alfredo, Roldán Mònica, Ortigoza-Escobar Juan Darío

Abstract excerpt

CYFIP2, essential for actin cytoskeleton regulation, is implicated in early-onset developmental and epileptic encephalopathy (DEE) with neurodevelopmental impairments and variable movement disorders, including occasional dyskinetic crises. We report a novel CYFIP2 frameshift variant (c.281_282insA/p.(Gln95ProfsTer15)) causing dyskinetic crises and to assess its functional impact. Clinical and genetic evaluations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40425513
DOI: 10.1111/cge.14774

Genes

CYFIP2

Variants

Provenance

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