Heterozygous <scp><i>KCNJ10</i></scp> Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia
We identified heterozygous variants of KCNJ10 in PKD. Impaired function of Kir4.1 might lead to abnormal neuronal excitability, which attributed to PKD. © 2024 International Parkinson and Movement Disorder Society.
Authors
- Xiaoping Tong (ORCID: https://orcid.org/0000-0002-0908-8091)
- Li Hua Cao (ORCID: https://orcid.org/0000-0003-1742-9877)
- Jingying Wu (ORCID: https://orcid.org/0000-0003-4582-9966)
- Xinghua Luan (ORCID: https://orcid.org/0000-0001-6683-5105)
- Ping Zhong (ORCID: https://orcid.org/0000-0002-3370-8000)
- Qing Liu (ORCID: https://orcid.org/0000-0002-6163-2488)
- Lan Zheng (ORCID: https://orcid.org/0000-0001-8230-577X)
- Xiaoqi Hong
- Kan Fang
- Wotu Tian (ORCID: https://orcid.org/0009-0003-7204-6489)
- Zaiwei Zhou
- Xin Fu (ORCID: https://orcid.org/0009-0001-7478-0244)
- Beisha Tang (ORCID: https://orcid.org/0000-0003-2120-1576)
- Li Wu (ORCID: https://orcid.org/0000-0001-9200-9376)
- Ziyi Li (ORCID: https://orcid.org/0000-0002-0010-1827)
- Xiao‐Rong Liu (ORCID: https://orcid.org/0000-0002-7769-9564)
- Mei Zhang (ORCID: https://orcid.org/0000-0003-0976-3867)
- Yuwu Zhao (ORCID: https://orcid.org/0000-0003-4119-8984)
- Xiaojun Huang (ORCID: https://orcid.org/0000-0003-1170-3281)
- Xunhua Li (ORCID: https://orcid.org/0000-0001-8679-1082)
- Xin Cheng (ORCID: https://orcid.org/0000-0003-3331-9993)
- Shendi Chen (ORCID: https://orcid.org/0000-0003-0357-4264)
- Xiaoli Liu (ORCID: https://orcid.org/0009-0006-8063-4418)
Institutions
- Central South University (CN)
- Sun Yat-sen University (CN)
- Shanghai Jiao Tong University (CN)
- Anhui University of Science and Technology (CN)
- Anhui Medical University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Peking Union Medical College Hospital (CN)
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Shanghai Children's Medical Center (CN)
- Shanghai CASB Biotechnology (China) (CN)
- Shanghai Ninth People's Hospital (CN)
- Minhang District Central Hospital (CN)
- Songjiang District Central Hospital (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- Shanghai First People's Hospital (CN)
- Shanghai Sixth People's Hospital (CN)
- Xiangya Hospital Central South University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-10-05
- DOI
- https://doi.org/10.1002/mds.30025
- Citations
- 7
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 1.64
Funders
- Shanghai Municipal Health Commission
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality
- Shanghai Hospital Development Center
- Program of Shanghai Academic Research Leader
- Scientific and Innovative Action Plan of Shanghai
- Postdoctoral Science Foundation of Shanghai Municipality