The manifestation of STXBP1-developmental and epileptic encephalopathy in adults

Takeaway

  • There is an unmet need for therapies that target the whole gamut of comorbidities observed in adults with STXBP1-induced early-onset developmental and epileptic encephalopathy (STXBP1-DEE).

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.