M Scott Perry, Ingrid E Scheffer, Joseph Sullivan, Andreas Brunklaus, Susana Boronat, James W Wheless, Linda Laux, Anup D Patel, Colin M Roberts, Dennis Dlugos, Deborah Holder, Kelly G Knupp, Matt Lallas, Steven Phillips, Eric Segal, Patricia Smeyers, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Tobias Brünger, Mary Wojnaroski, Benit Maru, Penrose O'Donnell, Magda Morton, Emma James, Maria Candida Vila, Norman Huang, Jacqueline S Gofshteyn, Salvador Rico
OBJECTIVE: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment-resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impactful disease manifestations. We evaluated seizure burden and language/communication development in children with DS. METHODS: ENVISION was a prospective, observational study evaluating children with DS associated with SCN1A pathogenic variants (SCN1A+ DS) enrolled at age <5 years...
December 4, 2023: Epilepsia