Insights Into <i>DEPDC5</i> -Related Epilepsy From 586 People
By assembling the largest pooled cohort to date and including underrepresented populations, this study refines penetrance estimates and highlights the clinical severity linked to earlier seizure onset. The positive outcomes after epilepsy surgery observed in our review underscore the importance of early genetic testing and counseling, and tailored therapeutic approaches, including consideration of early surgical intervention, particularly for children with early-onset <i>DEPDC5</i>-related epilepsy. This retrospective review is limited to available genotype and phenotype information from families at the time of publication.
Authors
- Dennis Lal (ORCID: https://orcid.org/0000-0002-5173-9636)
- Imad Najm (ORCID: https://orcid.org/0000-0001-5192-2089)
- Manuela Ochoa‐Urrea (ORCID: https://orcid.org/0000-0003-4157-701X)
- Costin Leu (ORCID: https://orcid.org/0000-0003-0598-3301)
- Tobias Bruenger (ORCID: https://orcid.org/0000-0003-2591-432X)
- Elizabeth Butler
- Christian M. Boßelmann (ORCID: https://orcid.org/0000-0002-1596-5599)
- Samden Lhatoo (ORCID: https://orcid.org/0000-0002-0260-3855)
Institutions
- Broad Institute (US)
- Cleveland Clinic (US)
- Hertie Institute for Clinical Brain Research (DE)
- The University of Texas Health Science Center (US)
- The Neurological Institute (US)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1212/wnl.0000000000214235
- Citations
- 4
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 5.88