Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients t...

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書誌詳細

出版年:	Heliyon
主要な著者:	Zhuangzhuang Yuan, Qian Wang, Chenyu Wang, Yuxing Liu, Liangliang Fan, Yihui Liu, Hao Huang
フォーマット:	論文
言語:	英語
出版事項:	Elsevier 2024-04-01
主題:	Paroxysmal kinesigenic dyskinesia CACNA1B Benign adult familial myoclonic epilepsy Start-loss mutation ADRA2B
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2405844024047054