Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis, Timothy E Green, Alison M Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A Myers, Richard J Leventer, Gaetan Lesca, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, Angela M Kaindl, Nicola Specchio, Ingrid E Scheffer
OBJECTIVE: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also known as WOREE (WWOX-related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX-DEE, and investigated genotype-phenotype correlations, particularly with regard to survival. METHODS: We studied 13 patients from 12 families with WWOX-DEE. Information regarding seizure semiology, comorbidities, facial dysmorphisms, and disease outcome were collected...
May 2023: Epilepsia