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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Detalhes bibliográficos
Publicado no:Brain Behav
Main Authors: Li, Wen, Wang, Yifan, Li, Bin, Tang, Bin, Sun, Hui, Lai, Jinxing, He, Na, Li, Bingmei, Meng, Heng, Liao, Weiping, Liu, Xiaorong
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
https://ncbi.nlm.nih.gov/pubmed/30307717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1134
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