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.
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
image

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!

Read more

image

Information for researchers

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

Read more

image

Information for clinicians

How we can work together to better understand STXBP1-E

Read more

Our latest activities

...

Winners of the 2022 ODC Rare Disease Day Competition!

To raise awareness about rare diseases the Orphan Disease Center organised a social media challenge. The video made by our STXBP1 team was one of the winners of the challenge!
...

First study on EEG analysis of STXBP1 syndrome published

The VU-VUmc STXBP1 team, together with their collaborators, have published a new study on quantitative EEG analysis for STXBP1 syndrome patients. The study is published in the journal Frontiers of Physiology.
...

STXBP1 patient family events 2021

In September 2021 a Dutch patient family event was organised by researchers and clinicians involved in STXBP1 research at the Vrije Universiteit Amsterdam and the Amsterdam UMC, followed by the international event of the STXBP1 foundation.