Information for clinicians
We are continuously working to gather more information on STXBP1 mutations, both those identified in patients as well as in asymptomatic individuals. We are already in contact with physicians treating STXBP1-carrier patients world-wide. If you have (a) patient(s) carrying a STXBP1-mutation, it would be very helpful if you could get in touch with us.
Our aim is to gather and summarize all currently known information about STXBP1 patients: this includes information on clinical symptoms that are experiences by these patients, but also genetics data and EEG measurements (if available). In addition to this, we intend to study the molecular and cellular effects of pathological STXBP1 mutations. This can be achieved through the expression of mutant STXBP1 in rodent cells or in iPSC-derived human neurons. More information about our cellular/molecular work can be found here .