Characteristic spatial and frequency distribution of mutations in SCN1A
SCN1A mutations tend to cluster at distinct sites, depending on the characteristic CpG dinucleotides, exons, and functional domains. Higher mutation density in particular regions, such as exon 22 and exon 4, offers promising targets for therapeutic genetic interventions.
Authors
- Mengwen Zhang (ORCID: https://orcid.org/0000-0003-2703-211X)
- Bin Tang (ORCID: https://orcid.org/0000-0001-6096-0837)
- Jing Guo (ORCID: https://orcid.org/0000-0003-0619-8831)
- Jiayuan Zhao (ORCID: https://orcid.org/0000-0002-3319-9509)
- Na He (ORCID: https://orcid.org/0000-0002-9712-7782)
- Bin Li (ORCID: https://orcid.org/0009-0004-5236-1761)
- Kang Liu (ORCID: https://orcid.org/0000-0002-3436-7850)
- Jie Wang (ORCID: https://orcid.org/0000-0002-7351-8332)
- Jiayuan Zhang (ORCID: https://orcid.org/0000-0003-1321-0384)
- Wei‐Ping Liao (ORCID: https://orcid.org/0000-0001-9929-9185)
- Xuqing Lin
Institutions
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Guangdong 999 Brain Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Acta Epileptologica
- Published
- 2024-11-11
- DOI
- https://doi.org/10.1186/s42494-024-00178-z
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- Guangzhou Medical University
- National Natural Science Foundation of China