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
Dr. Mala Misra-Isrie and PhD students Annemiek van Berkel and Hanna Lammertse were given the opportunity to attend and present their work at the first STXBP1 Investigators and Family Meeting.
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.