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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
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Original Research
Online Access: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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