Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals
Clinical WGS is an effective diagnostic tool in pediatric epilepsy. We identified female sex as a novel prognostic factor for receiving a genetic diagnosis and highlight the value of reanalyzing previously unsolved cases to improve diagnostic yield.
Authors
- Lucía Peña‐Pérez (ORCID: https://orcid.org/0000-0002-5044-7754)
- Nicole Lesko (ORCID: https://orcid.org/0000-0001-8770-1878)
- Tommy Stödberg (ORCID: https://orcid.org/0000-0003-1242-5260)
- Sofia Ygberg (ORCID: https://orcid.org/0000-0002-3854-2716)
- Virpi Töhönen
- Ann Båvner
- Michela Barbaro (ORCID: https://orcid.org/0000-0002-7598-9330)
- Leif Karlsson (ORCID: https://orcid.org/0000-0001-6274-9330)
- Anna Lindstrand (ORCID: https://orcid.org/0000-0003-0806-5602)
- Olivia J. Henry (ORCID: https://orcid.org/0000-0002-4717-8346)
- Anna Wedell (ORCID: https://orcid.org/0000-0002-2612-6301)
Institutions
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1111/epi.18403
- Citations
- 6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 10.90
Funders
- Knut och Alice Wallenbergs Stiftelse
- Vetenskapsrådet
- Science for Life Laboratory