On Saturday the 13th of April, the STXBP1 research team welcomed a new group of STXBP1-E families at the VUmc for a second ‘Clinic day’.
During the day, seven families participated in the different research components of the study, including examination by a clinical geneticist and a neurologist, as well as an EEG recording. Together, this information will greatly contribute to our investigation of STXBP1 Encephalopathy, allowing the research team to study the consequences of STXBP1 mutations at multiple ‘levels’, including clinical symptoms, brain networks and single neurons. 
In addition to the research part of the day, there was a plenary ‘lunch session’ that was open for attendance for other interested families as well. Dr. Mala Misra-Isrie and MSc student Jessica Bos gave a presentation about the clinical characteristics of STXBP1-E, based on scientific literature and information that we have gathered thus far within our study. PhD student Annemiek van Berkel gave a short presentation explaining more about our STXBP1 study and our hypotheses. This was followed by a Q&A session during which STXBP1-E families asked questions and gave valuable input. 
The research day was received positively by all attending families. It is extremely valuable for our research team to see the enthusiasm of the STXBP1 families and their willingness to contribute to our research.