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!

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.