The STXBP1 team baked 250 cookies to raise awareness for the disorder.

De Universiteit Antwerpen en het Universitair Ziekenhuis Antwerpen doen onderzoek naar motorische problemen en gangproblemen bij kinderen en volwassenen met STXBP1-E.

Met ruim 20 deelnemers online en 4 familieleden in de zaal was onze 2e editie van een digitale informatieavond weer een groot succes.

The first European STXBP1 summit, May 16-18, 2023, brought together stakeholder groups related to STXBP1 disorders from all over the world: fundamental researchers, healthcare professionals, representatives from industry and patients and their caregivers and advocates.
N Het eerste Europese STXBP1 congres, gehouden op 16-18 mei 2023, bracht stakeholders betreffende STXBP1-gerelateerde stoornissen van over de hele wereld samen: fundamentele onderzoekers, zorgverleners, vertegenwoordigers uit de industrie en patiënten en hun verzorgers.

Wij organiseeren een nieuwe STXBP1 informatieavond.

Here we present one of our latest publications titled ‘Dysregulation of synaptic and developmental RNA and protein profiles upon depletion of MUNC18-1’
N: Hier presenteren we een van onze nieuwste publicaties getiteld ‘Dysregulation of synaptic and developmental RNA and protein profiles upon depletion of MUNC18-1’

Here we present one of our latest publications titled ‘Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1’
N: Hier presenteren we een van onze nieuwste publicaties getiteld ‘Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1’

In this highly collaborative paper, we explored the phenotypic landscape of 534 patients diagnosed with STXBP1-related disorders. It provides a detailed overview of not only the diversity in genetic variations causing the disease, but also the diversity in symptoms reported in single patients, as well as medication effectiveness.

On Saturday 11th of June we successfully biked the Dutch-Belgian million dollar bike ride, a fundraising event to raise money for research towards STXBP1-Encephalopathy!

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!