Case report highlights diagnosis strategies for paroxysmal kinesigenic dyskinesia, suggesting relevant screening tests and treatment options.
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.
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Ross et al. (2025) studied this question.
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