Clinical and genetic characterization of DNM1l-related disorders: insights into genotype–phenotype correlations
This study provides the largest clinical and genetic characterization of <i>DNM1L</i>associated disorders to date and establishes genotype-phenotype correlations stratified by protein domain. The identification of RHADS as a distinctive EEG signature highlights its potential utility as a biomarker for specific clinical and genetic subgroups. Validation in larger, independent cohorts is necessary.
Authors
- Dan Sun (ORCID: https://orcid.org/0000-0003-2147-9308)
- Huang Sheng (ORCID: https://orcid.org/0000-0002-1394-9819)
- Fang Fang (ORCID: https://orcid.org/0000-0002-5272-302X)
- Hua Li (ORCID: https://orcid.org/0000-0002-7623-399X)
- Xu Manting
- Han Xiaodi
Institutions
- Capital Medical University (CN)
- Wuhan Children's Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-30
- DOI
- https://doi.org/10.3389/fped.2025.1672700
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Natural Science Foundation of China