The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list

Parkinsonism Relat Disord. 2023 Dec:117:105929. doi: 10.1016/j.parkreldis.2023.105929. Epub 2023 Nov 8.

Authors

Sarah M Brooker¹, Niccolò E Mencacci²

Affiliations

¹ Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
² Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA. Electronic address: niccolo.mencacci@northwestern.edu.

PMID: 37981540
DOI: 10.1016/j.parkreldis.2023.105929

No abstract available

Keywords: ATP1A3; Dystonia; Myoclonus; YY1.

MeSH terms

Dystonia* / genetics
Dystonic Disorders* / genetics
Humans
Mutation / genetics
Myoclonus* / genetics
Sodium-Potassium-Exchanging ATPase / genetics
YY1 Transcription Factor / genetics

Substances

ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase
YY1 protein, human
YY1 Transcription Factor

Supplementary concepts

Myoclonic dystonia