Welcome to the STXBP1 Center Amsterdam

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.

Donderdag 2 september 19:00 – 20:30 uur organiseren wij een STXBP1 informatieavond. Vanwege COVID-19 zal dit een online evenement zijn. De informatieavond zal bestaan uit presentaties ( in het Nederlands ) van een klinisch geneticus en onderzoekers die werken aan het STXBP1 syndroom. Daarnaast hopen we dat het evenement patiënten en hun families de kans geeft om elkaar beter te leren kennen en om eventuele vragen en ervaringen met elkaar te delen.
Als u wilt deelnemen aan dit online evenement, meld u dan aan via dit formulier.
Neem voor vragen contact met ons op door te mailen naar stxbp1@amsterdamumc.nl.  


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.

Get in touch
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Information for patients and caregivers

Information on STXBP1-E for patients and caregivers. NEW: find links to other STXBP1-E related content and social communities!

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Information for researchers

Over 20 years fundamental, translational and clinical research on the STXBP1 gene and its protein MUNC18-1

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Information for clinicians

How we can work together to better understand STXBP1-E

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Our latest activities

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ERC-PoC grant to spin out therapy design using human neurons

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.
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SNAREopathies: New syndrome classification based on mechanism

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.
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Joint CNCR/Swiss high-throughput STXBP1 screen receives funding

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.