Clinical trajectories and medication response in <i>TBC1D24</i> ‐related epilepsies
TBC1D24-related disorders are characterized by severe and pharmacoresistant epilepsy, with status epilepticus, focal seizures, and myoclonic seizures early in life. This study offers novel insights into the longitudinal disease course and treatment response in TBC1D24-related disorders, a critical first step toward clinical trial readiness.
Authors
- Sarah McKeown Ruggiero (ORCID: https://orcid.org/0000-0002-0834-0750)
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Dallas Armstrong (ORCID: https://orcid.org/0000-0002-8395-5587)
- Deepa Sirsi (ORCID: https://orcid.org/0000-0003-3960-9561)
- Joeylynn Nolan
- Jan Magielski (ORCID: https://orcid.org/0000-0001-7290-4939)
- Ingo Helbig (ORCID: https://orcid.org/0000-0001-8486-0558)
- Susan Arnold (ORCID: https://orcid.org/0009-0001-6249-5585)
- Bintou Bane (ORCID: https://orcid.org/0009-0005-5150-4932)
- Ealing Mondragon (ORCID: https://orcid.org/0000-0002-0569-1459)
Institutions
- Children's Hospital of Philadelphia (US)
- Yale University (US)
- Bedford Research Foundation (US)
- Yale New Haven Health System (US)
- University of Pennsylvania (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1111/epi.70013
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00