Insights into DEPDC5-Related Epilepsy from 586 people: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
Manuela Ochoa‐Urrea, Elizabeth A. Butler, Tobias Bruenger, Costin Leu, Christian M. Boßelmann, Imad Najm, Samden D. Lhatoo, Dennis Lal
This study analyzes 586 DEPDC5 variant carriers to estimate penetrance, phenotypic features, and treatment outcomes in DEPDC5-related epilepsy.
medRxiv · Dec 25, 2024 · PreprintGenetic & Genomic Medicine