Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

Abstract

The disease course in <i>STXBP1</i>-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at seizure onset is the only epilepsy-related feature associated with neurodevelopment outcome. These findings can inform future dedicated natural history studies and trial design.