Takeaway
- Adults with STXBP1-induced early-onset developmental and epileptic encephalopathy (STXBP1-DEE) often present with epilepsy, movement and communication disorders, serious cognitive impairments and developmental delay, and continuous seizure monitoring is warranted.
Why this matters?
Disease-modifying therapies for STXBP1-DEE are lacking, with most therapeutic options mainly directed at seizure control.
Understanding the natural history of STXBP1-DEE may provide insight into the disease mechanisms, allowing for the development of targeted therapies.