<i>KCNJ4</i> variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Our findings establish KCNJ4 as a novel epilepsy-associated gene and demonstrate that both gain- and loss-of-function mechanisms of Kir2.3 can contribute to epileptogenesis. This study expands the genetic landscape of epilepsy and highlights the critical role of inward-rectifier potassium channel regulation in neuronal excitability, with potential implications for mechanism-based therapeutic strategies.
Authors
- Yuanlu Chen
- Neng Xiao
- Y.T. Tang (ORCID: https://orcid.org/0009-0001-3695-4522)
- Shengnan Wu
- Hua Pan
- Yiqiao Chen (ORCID: https://orcid.org/0000-0003-3575-5553)
- Xiao Mao
- Yi Li (ORCID: https://orcid.org/0000-0001-9315-7282)
- Xiaohuan Dong
- Yajie Wang (ORCID: https://orcid.org/0009-0009-3650-7878)
- Wuhen Xu
- Rami Abou Jamra
- Weiyue Gu
- deng liu
- Alexander Fuchs
- Oppermann Henry
- Juanli Hu
- Mei He
- Han Jing
- Zhen Liu
- Pengchao Wang
Institutions
- Harbin Medical University (CN)
- Sun Yat-sen University (CN)
- Capital Medical University (CN)
- Beijing Tian Tan Hospital (CN)
- Sun Yat-sen Memorial Hospital (CN)
- BeiGene (China) (CN)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Chenzhou First People's Hospital (CN)
- Education Department of Hunan Province (CN)
- Shanghai Children's Hospital (CN)
- Einstein Center for Neurosciences Berlin (DE)
- Hunan Provincial Maternal and Child Health Hospital (CN)
- Xiangnan University (CN)
- University of South China (CN)
- Leipzig University (DE)
Publication Details
- Journal
- Epilepsia
- Published
- 2026-03-14
- DOI
- https://doi.org/10.1002/epi.70153
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00