De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis
This study suggested the <i>KCNK4</i> gene as a novel candidate causative gene of EFS+, which would be helpful for the genetic diagnosis and clinical management of patients.
Authors
- Yujie Gu
- Hong-Jun Yan
- Wenhui Liu (ORCID: https://orcid.org/0000-0001-7575-5561)
- Min Xu (ORCID: https://orcid.org/0000-0001-5737-2217)
- Hua Li (ORCID: https://orcid.org/0000-0002-1724-5907)
- Peng‐Yu Wang (ORCID: https://orcid.org/0009-0001-6848-2021)
- Sheng Luo (ORCID: https://orcid.org/0000-0002-7184-1267)
- Jing Guo (ORCID: https://orcid.org/0009-0005-8497-9758)
Institutions
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-31
- DOI
- https://doi.org/10.3389/fgene.2025.1499716
- Citations
- 4
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 5.88