Discovery of a Novel Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient.

Introduction: Cullin-3, encoded by the , is a core component of the ubiquitin E3 ligase complex. Through binding to specific adapters, this scaffold protein mediates the ubiquitination of a number of substrates, targeting their proteasomal degradation. Pathogenic variations of the are thought to cause autism and neurodevelopmental disorders, but so far, few studies have been associated with the phenotype "neurodevelopmental disorder with or without autism or seizures (NEDAUS, #OMIM: 619239).