1st European STXBP1 Summit and Research Roundtable

STXBP1-encephalopathy (STXBP1-E) is a rare genetic neurodevelopmental disorder, caused by pathogenic variants in the STXBP1 gene, with an estimated incidence of 1 in 30.000. STXBP1-E is characterized by developmental delay often leading to (severe) intellectual disability, and seizures in most patients. Behavioral problems and movement disorders such as tremor and ataxia are frequent comorbidities. At the moment there is no cure and treatment is limited to symptom control. With this first European STXBP1 summit we want to connect healthcare professionals and fundamental researchers working on STXBP1 with patients and their caregivers.  The aim of this event is to promote collaborative networks, share knowledge and create awareness on STXBP1-E. We strongly believe that we can only advance our understanding of this rare disorder and advance the search for a cure by extensive collaboration with both the international research community and the STXBP1 families who have their own personal  expertise with the disease. To this aim, we invite professionals and patient advocates from all over Europe, also specifically addressing under-represented countries, to join the 1^st European STXBP1 Summit.