Analysis of epilepsy‐associated variants in <scp><i>HCN3</i></scp> – Functional implications and clinical observations
Epilepsy is a brain disease that can be caused by mutations in specific genes. We found three rare variants in HCN3 gene in 298 patients with epilepsy, and two of the three mutations could be pathogenic and cause epilepsy and another one is single-nucleotide polymorphism, which could have no effect and no contribution to the development of epilepsy.
Authors
- Jun Jiang (ORCID: https://orcid.org/0000-0001-9408-2972)
- Hongbo Xiong
- Yufeng Huang (ORCID: https://orcid.org/0000-0003-4531-5797)
- Peiwei Zhao
- Xuelian He (ORCID: https://orcid.org/0000-0002-6275-1219)
- Chen Sun (ORCID: https://orcid.org/0000-0002-5145-1536)
- Lei Zhang (ORCID: https://orcid.org/0000-0001-7769-7377)
- Sukun Luo
- Xiankai Zhang
- Gunagtao Kuang
Institutions
- Wuhan University (CN)
- Zhongnan Hospital of Wuhan University (CN)
- Wuhan Children's Hospital (CN)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2024-10-03
- DOI
- https://doi.org/10.1002/epi4.13049
- Citations
- 2
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.77
Funders
- Natural Science Foundation of Hubei Province