WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk.
Karen L OliverMarina TrivisanoSimone A MandelstamAngela De DominicisDavid I FrancisTimothy E GreenAlison M MuirApoorva ChowdharyChristoph HertzbergKlaus GoldhahnJulia MetreauChristine PragerJason PinnerMichael CardamoneKenneth A MyersRichard J LeventerGaëtan LescaMelanie BahloMichael S HildebrandHeather C MeffordAngela M KaindlNicola SpecchioIngrid Eileen SchefferPublished in: Epilepsia (2023)
Biallelic WWOX pathogenic variants cause an early-infantile developmental and epileptic encephalopathy syndrome. The most common seizure types are focal seizures and epileptic spasms. Mortality risk is associated with mutation type; patients with biallelic null WWOX pathogenic variants have significantly lower survival probability compared to those carrying at least one presumed hypomorphic missense pathogenic variant.