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...

詳細記述

保存先:
書誌詳細
出版年:Brain Behav
主要な著者: Li, Wen, Wang, Yifan, Li, Bin, Tang, Bin, Sun, Hui, Lai, Jinxing, He, Na, Li, Bingmei, Meng, Heng, Liao, Weiping, Liu, Xiaorong
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2018
主題:
Original Research
オンライン･アクセス: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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