NeurologyAdolescentAdultChildFemaleHumans
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 M Najm, Samden Lhatoo, Dennis Lal
Published: 202510.1212/WNL.0000000000214235
Abstract
BACKGROUND AND OBJECTIVES: DEPDC5 variants are the most common genetic cause of focal epilepsy, often linked to focal cortical dysplasia. Despite their clinical significance, up-to-date penetrance estimates and comprehensive genotype-phenotype correl…
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