De novo heterozygous missense variants in <i>ATP11A</i> are associated with refractory focal epilepsy
This study suggested that de novo heterozygous missense variants of <i>ATP11A</i> are associated with refractory focal epilepsy. Missense variant-associated phenotypes range from epileptic seizures to severe neurological symptoms. It should be noted that patients with <i>ATP11A</i> variants have a gradually worsening potential.
Authors
- Yutao Guo (ORCID: https://orcid.org/0000-0002-7626-7751)
- Yi‐Wu Shi (ORCID: https://orcid.org/0000-0002-7962-8874)
- Si‐Ming Yuan (ORCID: https://orcid.org/0000-0003-1380-5425)
- Zi-Long Ye
- Haisheng Lin (ORCID: https://orcid.org/0000-0002-0437-5198)
- Ming‐Feng He
- Xiongyan Luo
- Nan-Xiang Shen
- Cui-Xia Fan
- Delai Qiu
- Wenbin Li (ORCID: https://orcid.org/0000-0003-3096-4831)
- Libin Zhang (ORCID: https://orcid.org/0009-0006-7620-3957)
Institutions
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Guangzhou Women and Children Medical Center (CN)
- Shantou Central Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1136/jmg-2024-110540
- Citations
- 4
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- National Natural Science Foundation of China
- Basic and Applied Basic Research Foundation of Guangdong Province