WWOX -Related Developmental and Epileptic Encephalopathy

Using information from the largest WWOX-DEE parent-reported survey, we demonstrate a higher risk of developing seizures, respiratory complications, and hypertonia in individuals with biallelic null WWOX variants. To ensure optimal care of individuals with this rare DEE, we recommend their genotype be considered during clinical management. Future studies should consider using long-term natural history studies and detailed medical records to enable deeper phenotyping of each patient.