Cardiac Genetic Variants in Sudden, Unexpected Death in Epilepsy: From Challenging DNA Extraction Methods to Updated NGS Panels for Improved Genetic Analysis
As expected, very low coverage of the target base was observed for FFPE tissue samples because of the complexity of the biological material. Therefore, the presence of any significant variants in unamplified regions cannot be excluded in the FFPE samples. As suggested by the literature, the variants found in the blood samples are potentially associated with SUDEP.
Authors
- Eleonora Ciarimboli
- Chiara Turchi
- Valerio Onofri (ORCID: https://orcid.org/0000-0002-1294-1444)
- Sara Sablone (ORCID: https://orcid.org/0000-0002-2864-3521)
- Marco Palpacelli (ORCID: https://orcid.org/0000-0003-0295-7909)
- Mauro Pesaresi (ORCID: https://orcid.org/0000-0001-5721-0912)
- Filomena Melchionda
- Alessia Bernini Di Michele (ORCID: https://orcid.org/0009-0008-9412-9572)
- Lucia Fiordelmondo
Institutions
- Marche Polytechnic University (IT)
- Ospedali Riuniti Umberto I (IT)
- University of Bari Aldo Moro (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-10-28
- DOI
- https://doi.org/10.3390/genes16111272
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission