The manifestation of STXBP1-developmental and epileptic encephalopathy in adults


  • 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.