title: Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.
abstract: BACKGROUND
  Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Pichet
authors: P
authors: Termsarasab
authors: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Amy C
authors: AC
authors: Yang
authors: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Jennifer
authors: J
authors: Reiner
authors: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Hui
authors: H
authors: Mei
authors: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Stuart A
authors: SA
authors: Scott
authors: Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors: Steven J
authors: SJ
authors: Frucht
keywords: 16p11.2 microdeletion; Paroxysmal kinesigenic dyskinesia; movement disorders