Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report
PKD is an important diagnosis to consider due to the potential delay in diagnosis, genetic implications, and treatment responsiveness. Video recordings are valuable diagnostic tools. When suspecting PKD, screening for PRRT2 variants as well as 16p11.2 microdeletions should be considered.
Authors
- Alison Ross (ORCID: https://orcid.org/0009-0006-3812-1889)
- E. Carter
- Graham Mackay (ORCID: https://orcid.org/0000-0002-4316-2320)
- Elma Stephen
Institutions
- Aberdeen Royal Infirmary (GB)
- Royal Aberdeen Children's Hospital (GB)
Publication Details
- Journal
- Case Reports in Neurology
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1159/000548577
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00