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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Columbia University Libraries/Information Services
2014
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| Materias: | |
| 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 |