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.
Background information on STXBP1-E for patients, caregivers and others interested
Over 20 years fundamental, translational and clinical research on the STXBP1 gene and its protein MUNC18-1
How we can work together to better understand STXBP1-E
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.
A team of FGA/CNCR researchers together with US/Swedish partners (SUN project) and VU spin-off Sylics characterize mechanisms underlying the seizures and cognitive deficits in STXBP1-encephalopathy and present several new animal models.