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KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

Overview

Authors: Hu Pan1,2, Deng Liu3, Wuhen Xu4, Yang Li5, Juanli Hu1,2, Oppermann Henry6, Alexander Fuchs7, Rami Abou Jamra6, Zhen Liu8, Mei He1,2, Yuanlu Chen9, Shengnan Wu4, Xiaohuan Dong10, Yiqiao Chen1,2, Pengchao Wang11, Weiyue Gu11, Han Jing12, Yabing Tang13, Ya‐Jie Wang10, Xiao Mao1,2, Neng Xiao14
ORCID iDs: Hu Pan, Zhen Liu, Xiao Mao
14 affiliations
  1. Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Affiliated Maternal and Child Health Care Hospital, Hengyang Medical School, University of South China (Hunan Provincial Maternal and Child Health Care Hospital), Changsha City, China
  2. Clinical Research Center for Placental Medicine in Hunan Province, Changsha, China
  3. School of Basic Medical Sciences, Harbin Medical University, Harbin, China
  4. Department of Clinical Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
  5. Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China
  6. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
  7. Department Berlin, Epilepsy Center Berlin‐Brandenburg, Berlin, Germany
  8. Department of Neurology, Sun Yat‐sen Memorial Hospital, Sun Yat‐sen University, Guangzhou, China
  9. Department of Pharmacy, Chenzhou First People's Hospital, Chenzhou, China
  10. Department of Pediatrics, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
  11. Chigene (Beijing) Translational Medical Research Center, Beijing, China
  12. Basic Medical College, Xiangnan University, Chenzhou, China
  13. Department of Obstetrics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha City, China
  14. Department of Pediatric Neurology, Chenzhou First People's Hospital, Chenzhou, China
Institutions: Hunan Provincial Maternal and Child Health Hospital (China); University of South China (China); Harbin Medical University (China); Shanghai Jiao Tong University (China); Shanghai Children's Hospital (China); Nanjing Children's Hospital (China); Second Affiliated Hospital of Nanjing Medical University (China); University Hospital Leipzig (Germany); Leipzig University (Germany); Sun Yat-sen University (China); Sun Yat-sen Memorial Hospital (China); Chenzhou First People's Hospital (China); Capital Medical University (China); Beijing Tian Tan Hospital (China); Xiangnan University (China)
Journal: Epilepsia, volume 67, issue 6, pages 3199-3210
Dates: received 5 November 2025; accepted 2 February 2026; published online 14 March 2026; in print June 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1002/epi.70153 · PMID 41830586 · PMCID PMC13285259 · OpenAlex W7135408315
Open access: hybrid, a free copy (OpenAlex)
Status: empty repository
Categories: genetics / omics (modality), intracellular / patch clamp (modality), human (organism), other (organism), epilepsy (population), cellular / molecular (subfield)
Keywords: electrophysiology, epileptic, inward rectifier potassium current, KCNJ4 gene, Kir2.3 channel
MeSH: Drug Resistant Epilepsy*, G Protein-Coupled Inwardly-Rectifying Potassium Channels*, Potassium Channels, Inwardly Rectifying*, Animals, Child, Exome Sequencing, Female, Humans, Male, Mutation, Missense, Oocytes, Patch-Clamp Techniques, Xenopus laevis (* major topic)
Topic: Ion channel regulation and function (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: the Major Project of Hunan Health Commission Scientific Research Fund (20253903); the Natural Science Foundation of Hunan Province (2025JJ60693, 2025JJ70529, 2022JJ40206); Natural Science Foundation of Hunan Province (2025JJ70529, 2022JJ40206, 2025JJ60693); the Hunan Provincial Graduate Research and Innovation Project (CX20251498); the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province; Scientific Research Fund of Xiangnan University (2024XJ147); the Ruixin Project of Hunan Provincial Maternal and Child Health Care Hospital
Citations: not cited yet (Europe PMC); 35 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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figshare 963153

License: CC-BY-4.0
State: the link answers, verified on 30 September 2026
Evidence: files inventoried
Size: 1 file, 0 scripts
Software Heritage: not checked
Found in: the references
Not found: README, license file, CITATION.cff, environment file, tests, continuous integration, documentation
Availability: 1 check, the latest on 30 September 2026: the link answers (HTTP 200)
  • 30 September 2026: the link answers (HTTP 200)
At the source:

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Data

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Data availability statement

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Read it in the paper: doi.org/10.1002/epi.70153.

Versions

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Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 21 authors, 5 keywords, 13 MeSH terms, 7 funders, 34 references.

Cite

This paper

Pan, H., Liu, D., Xu, W., Li, Y., Hu, J., Henry, O., Fuchs, A., Jamra, R. A., Liu, Z., He, M., Chen, Y., Wu, S., Dong, X., Chen, Y., Wang, P., Gu, W., Jing, H., Tang, Y., Wang, Y., . . . Xiao, N. (2026). KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy. Epilepsia, 67(6), 3199-3210. https://doi.org/10.1002/epi.70153

BibTeX

@article{pan2026kcnj4,
author = {Pan, Hu and Liu, Deng and Xu, Wuhen and Li, Yang and Hu, Juanli and Henry, Oppermann and Fuchs, Alexander and Jamra, Rami Abou and Liu, Zhen and He, Mei and Chen, Yuanlu and Wu, Shengnan and Dong, Xiaohuan and Chen, Yiqiao and Wang, Pengchao and Gu, Weiyue and Jing, Han and Tang, Yabing and Wang, Ya‐Jie and Mao, Xiao and Xiao, Neng},
title = {{KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy}},
journal = {Epilepsia},
year = {2026},
month = mar,
volume = {67},
number = {6},
pages = {3199--3210},
publisher = {Wiley},
issn = {0013-9580},
doi = {10.1002/epi.70153},
url = {https://doi.org/10.1002/epi.70153},
pmid = {41830586},
pmcid = {PMC13285259}
}

RIS

TY - JOUR
AU - Pan, Hu
AU - Liu, Deng
AU - Xu, Wuhen
AU - Li, Yang
AU - Hu, Juanli
AU - Henry, Oppermann
AU - Fuchs, Alexander
AU - Jamra, Rami Abou
AU - Liu, Zhen
AU - He, Mei
AU - Chen, Yuanlu
AU - Wu, Shengnan
AU - Dong, Xiaohuan
AU - Chen, Yiqiao
AU - Wang, Pengchao
AU - Gu, Weiyue
AU - Jing, Han
AU - Tang, Yabing
AU - Wang, Ya‐Jie
AU - Mao, Xiao
AU - Xiao, Neng
TI - KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy
T2 - Epilepsia
J2 - Epilepsia
PY - 2026
DA - 2026/03/14
VL - 67
IS - 6
SP - 3199
EP - 3210
SN - 0013-9580
PB - Wiley
DO - 10.1002/epi.70153
UR - https://doi.org/10.1002/epi.70153
LA - en
ER -

CSL-JSON

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