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

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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Bibliographic Details
Main Authors: Zhuangzhuang Yuan, Qian Wang, Chenyu Wang, Yuxing Liu, Liangliang Fan, Yihui Liu, Hao Huang
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:Heliyon
Subjects:
Paroxysmal kinesigenic dyskinesia
CACNA1B
Benign adult familial myoclonic epilepsy
Start-loss mutation
ADRA2B
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024047054

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http://www.sciencedirect.com/science/article/pii/S2405844024047054

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