Time to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvement
We identified significant factors associated with delay to genetic testing in DS. Purposefully addressing these factors through education and resources will likely be important for continued improvement in early and equitable diagnosis for patients with DS.
Authors
- Christelle Moufawad El Achkar (ORCID: https://orcid.org/0000-0003-0497-8172)
- Ross A. Carson (ORCID: https://orcid.org/0009-0009-1193-6887)
- Christina Briscoe Abath (ORCID: https://orcid.org/0000-0002-1026-7695)
- John E. Maldonado Pacheco
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- University of Pittsburgh (US)
- Children's Hospital of Pittsburgh (US)
- University of Colorado Anschutz Medical Campus (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1111/epi.18666
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00