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Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially

Mirja Thomsen1, Max Borsche1,2, Vicente A Yépez3,4

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Cerebellum (London, England)
|March 24, 2026
PubMed
Summary

No abstract available in PubMed .

Keywords:
AtaxiaDystoniaGene dosage changeHard-to-detect variantHead tremorKIF1CLeukoencephalopathyMyoclonusOptical genome mappingQuadruple DBSRare neurological diseaseSpastic ataxia type 2 (OMIM: 611302)SpasticityTranscriptome

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