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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

BACKGROUND: Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency an...

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Detalles Bibliográficos
Autores principales: Lee, Yi-Chung, Lee, Ming-Jen, Yu, Hsiang-Yu, Chen, Chien, Hsu, Chang-Hung, Lin, Kon-Ping, Liao, Kwong-Kum, Chang, Ming-Hong, Liao, Yi-Chu, Soong, Bing-Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409860/
https://www.ncbi.nlm.nih.gov/pubmed/22870186
http://dx.doi.org/10.1371/journal.pone.0038543