Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

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 ge...

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Bibliografiska uppgifter
I publikationen:Tremor Other Hyperkinet Mov (N Y)
Huvudupphovsmän: Termsarasab, Pichet, Yang, Amy C., Reiner, Jennifer, Mei, Hui, Scott, Stuart A., Frucht, Steven J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Columbia University Libraries/Information Services 2014
Ämnen:
Case Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303604/
https://ncbi.nlm.nih.gov/pubmed/25667815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8N58K0Q
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