Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay
We identified a novel homozygous nonstop mutation in the <i>SLC13A5</i> gene of a Chinese patient with DEE25. This study expands the mutation spectrum of <i>SLC13A5</i> and will have significant implications for the proband's family in terms of medical management and genetic counseling.
Authors
- Manling Tang
- Qiongfang Wu (ORCID: https://orcid.org/0000-0002-8432-7240)
- Ge Chen (ORCID: https://orcid.org/0000-0002-0501-372X)
- Shuicheng Yan (ORCID: https://orcid.org/0000-0001-8906-3777)
- Jia Chen (ORCID: https://orcid.org/0000-0002-4242-2899)
- Qiang Xu (ORCID: https://orcid.org/0000-0001-8510-6127)
- Shan Duan (ORCID: https://orcid.org/0000-0002-4677-0823)
- Lijuan Long (ORCID: https://orcid.org/0000-0002-0598-1405)
- Hua He
Institutions
- Central South University (CN)
- Jiangxi Maternal and Child Health Hospital (CN)
- Zhuzhou Central Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-04-17
- DOI
- https://doi.org/10.3389/fgene.2025.1474390
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China