Splicing variants in <i>DEPDC5</i> ‐related epilepsies: From functional characterization to correction
This study enhances understanding of splicing variants in the DEPDC5 gene and their role in focal epilepsies. The development of a correction system using modified snRNAs represents a novel therapeutic approach, laying the groundwork for personalized treatment strategies.
Authors
- Ekaterina Lozier (ORCID: https://orcid.org/0000-0003-2901-0539)
- Е. В. Осипова
- Artem Sharkov (ORCID: https://orcid.org/0000-0002-0980-2638)
- Artem O. Borovikov (ORCID: https://orcid.org/0000-0001-5871-8005)
- Dmitriy Saushev (ORCID: https://orcid.org/0000-0002-4936-3481)
- Mikhail Skoblov (ORCID: https://orcid.org/0000-0002-7293-3438)
- Alexandra Filatova (ORCID: https://orcid.org/0000-0002-5979-0727)
- Igor O. Bychkov (ORCID: https://orcid.org/0000-0002-6594-6126)
- Vyacheslav Tabakov (ORCID: https://orcid.org/0000-0003-0291-153X)
- S. M. Sharkova
Institutions
- Pirogov Russian National Research Medical University (RU)
- Research Centre for Medical Genetics (RU)
- National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU)
- Center for Genomic Science (IT)
- Research Center of Neurology (RU)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-06-21
- DOI
- https://doi.org/10.1111/epi.18506
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Science and Higher Education of the Russian Federation