Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey
Alison J. Cutts, Hillary Savoie, Michael F. Hammer, John M. Schreiber, Celene Grayson, Constanza Luzon, Noam N. Butterfield, Simon Neil Pimstone, Ernesto Aycardi, Cynthia L. Harden, Chuck Yonan, Eric Jen, Trung Nguyen, Tara Carmack, Dietrich Haubenberger
This study surveys caregivers of SCN8A-DEE patients to describe clinical features and treatment challenges, finding high seizure burden, multiple comorbidities, and limited effective therapies.
Seizure · Mar 10, 2022Peer-reviewedGenetic & Genomic Medicine