STXBP-Encephalopathy is a severe genetic disease. We, clinical and fundamental researchers at the VU University in Amsterdam, The Netherlands, work together to better understand STXBP1-E. We aim to improve diagnosis and therapeutic interventions, and to provide (animal and cellular) models to study the disease. This website is dedicated to inform patients, caregivers, scientists, clinicans and others interested about this disease and our work.
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’.
On Saturday the 13th of October the first group of STXBP1-E families came to the VUmc to participate in the new study on STXBP1-Encephalopathy.
On Oct. 13, the 1st STXBP1 Patient Clinic Day will take place at VUmc in Amsterdam. The day is part of our studies on STXBP1-Encephalopathy (STXBP1-E) in a collaboration between FGA-CNCR, Clinical Genetics and VU spin-off company NBT Analytics.