Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
This research underscores RNA sequencing of cultured fibroblasts as a valuable tool in genetic diagnostics for childhood onset epilepsy, particularly when conventional methods fail. Expanding the control dataset with age-matched samples and incorporating RNA sequencing with nonsense-mediated decay inhibition could further enhance diagnostic yield.
Authors
- Sarah Weckhuysen (ORCID: https://orcid.org/0000-0003-2878-1147)
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Anna Jansen (ORCID: https://orcid.org/0000-0002-3835-2824)
- Noor Smal (ORCID: https://orcid.org/0000-0003-4335-1583)
- Charissa Millevert (ORCID: https://orcid.org/0000-0003-0827-8018)
- Davide Mei (ORCID: https://orcid.org/0000-0001-6790-6251)
- Simona Balestrini (ORCID: https://orcid.org/0000-0001-5639-1969)
- Els De Vriendt (ORCID: https://orcid.org/0000-0002-1464-3846)
- Allan Bayat (ORCID: https://orcid.org/0000-0003-4986-8006)
- An‐Sofie Schoonjans (ORCID: https://orcid.org/0000-0001-7545-518X)
- Matthias De Wachter (ORCID: https://orcid.org/0000-0002-6422-210X)
- Rikke S. Møller (ORCID: https://orcid.org/0000-0002-9664-1448)
- Marije E. C. Meeuwissen
- Zakaria Eddafir (ORCID: https://orcid.org/0009-0008-9648-5984)
Institutions
- University of Antwerp (BE)
- University of Southern Denmark (DK)
- Antwerp University Hospital (BE)
- Meyer Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Florence (IT)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1111/epi.18279
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Fonds Wetenschappelijk Onderzoek
- Universiteit Antwerpen