16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

INTRODUCTION: Mutations of the PRRT2 gene are the most common cause for paroxysmal kinesigenic dyskinesia. However, patients with negative PRRT2 mutations are not rare. The aim of this study is to determine whether copy number variant of PRRT2 gene is another potential pathogenic mechanism in the pa...

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Detalles Bibliográficos
Autores principales: Li, Wen, Wang, Yifan, Li, Bin, Tang, Bin, Sun, Hui, Lai, Jinxing, He, Na, Li, Bingmei, Meng, Heng, Liao, Weiping, Liu, Xiaorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
https://www.ncbi.nlm.nih.gov/pubmed/30307717
http://dx.doi.org/10.1002/brb3.1134

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