BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report
This case highlights that synonymous <i>BRAT1</i> variants affecting mRNA splicing can be pathogenic, leading to severe RMFSL. The findings expand the genotypic spectrum and underscore the need for comprehensive bioinformatics analysis of non-coding consequences in genetic testing.
Authors
- Zihuan Cheng (ORCID: https://orcid.org/0000-0001-8258-6700)
- Rui-Cong Ma
- Fan Wang (ORCID: https://orcid.org/0000-0002-9869-9504)
- Dong-Yuan Qin
- Dan Feng
- Qin-Qin Tang
- Yan-Jun Song
- Ke Sun
Institutions
- Lanzhou University Second Hospital (CN)
- Lanzhou University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-02-09
- DOI
- https://doi.org/10.3389/fped.2026.1694328
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Gansu Province