De Novo <scp><i>HNRNPU</i></scp> Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited <scp><i>KANSL1</i></scp> Loss‐of‐Function Variant Resolved by <scp>RNA</scp> Analysis
This case illustrates the importance of integrating WGS with additional analyses to accurately diagnose and understand the molecular basis of the lack of influence of the LoF variant in KANSL1 on the patient's phenotype.
Authors
- Mikhail Skoblov (ORCID: https://orcid.org/0000-0002-7293-3438)
- Daria Guseva (ORCID: https://orcid.org/0000-0002-8844-572X)
- М. А. Нефедова (ORCID: https://orcid.org/0000-0003-1141-9352)
- Daria Akimova (ORCID: https://orcid.org/0009-0002-7001-4099)
Institutions
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1002/mgg3.70127
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Science and Higher Education of the Russian Federation