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A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion

PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population. Thirteen Chinese patients with PKD/IC were screened randomly for cod...

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Detalles Bibliográficos
Autores principales: Baldi, Salem, Zhu, Jin-Ling, Hu, Qing-Yun, Wang, Ju-Li, Zhang, Jin-Bo, Zhang, Shu-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251426/
https://www.ncbi.nlm.nih.gov/pubmed/32509037
http://dx.doi.org/10.1155/2020/2097059