STXBP1 Encephalopathy is a severe genetic disease. We, clinical and fundamental researchers at the Vrije Universiteit (VU) 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, clinicians and others interested about this disease and our work. Find the most recent developments at the bottom of this page or here.
Timeline of the research development on MUNC18-1/STXBP1 since the first publication on mice lacking the protein and the discovery that it is essential for neurotransmission in 2000. In 2008, the first patients were identified. Clinically relevant highlights in the Netherlands include the taking place of the first clinic days at the Amsterdam UMC in 2018 where many patient families came together for standardized investigations (see here and here). There are exciting times ahead with many projects in the making (more information on the bottom of this page). Light green lines represent publications on MUNC18-1 by the FGA lab over the years, which amount to more than one paper per year on average.
Claudia Persoon and Matthijs Verhage developed new preclinical screening assays using functional, mature human neurons and CRISPR-Cas9 technology, to promote identification of promising treatment strategies for brain disorders.
A position paper by Verhage & Sorensen published in Neuron on June 19 proposes to unify syndromes caused by mutations in eight core components of the synaptic secretion machinery, based on common etiology and mechanism.
The STXBP1 team of FGA obtained funding from the 2019 Million Dollar Bike Ride event, organized by the Orphan Disease Center in the US, for a high throughput screen to identify new therapeutic interventions for STXBP1 patients.