Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

Pichet Termsarasab, Amy C. Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, Steven J. Frucht

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Background: Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2.

Case Report: We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomic hybridization (aCGH) detected a 533.9-kb deletion on chromosome 16, encompassing over 20 genes and transcripts.

Discussion: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.

Original languageEnglish (US)
JournalTremor and Other Hyperkinetic Movements
Issue number1
StatePublished - Nov 17 2014
Externally publishedYes


  • 16p11.2 microdeletion
  • Paroxysmal kinesigenic dyskinesia
  • movement disorders

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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