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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Detalles Bibliográficos
Autores principales: Termsarasab, Pichet, Yang, Amy C., Reiner, Jennifer, Mei, Hui, Scott, Stuart A., Frucht, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303604/
https://www.ncbi.nlm.nih.gov/pubmed/25667815
http://dx.doi.org/10.7916/D8N58K0Q

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303604/
https://www.ncbi.nlm.nih.gov/pubmed/25667815
http://dx.doi.org/10.7916/D8N58K0Q

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