Heterozygous Loss‐of‐Function Variants of <scp> <i>KCNJ10</i> </scp> Cause Paroxysmal Kinesigenic Dyskinesia
The study confirmed the correlation between PKD and the loss-of-function of Kir4.1 resulted from heterozygous KCNJ10 variants. The distribution bias of PKD-related KCNJ10 variants as well as the male predominance in affected individuals shed light on the mechanism investigation of this subtype of PKD. © 2026 International Parkinson and Movement Disorder Society.
Authors
- Hongxia Li (ORCID: https://orcid.org/0000-0002-1440-1345)
- Dian-Fu Chen (ORCID: https://orcid.org/0000-0002-0571-2598)
- Yulan Chen
- Jiao-Jiao Xu
- Zhi-Ying Wu
- Zhong-Chen Feng
- Wan-Bing Sun
Institutions
- Allen Institute for Brain Science (US)
- Zhejiang Lab (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Movement Disorders
- Published
- 2026-03-02
- DOI
- https://doi.org/10.1002/mds.70247
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00