STXBP1

Research collaboration

The department of Functional Genomics (FGA) headed by Professor Matthijs Verhage has over 20 years of experience and has published more than 40 peer reviewed papers dissecting the cellular function(s) of STXBP1/MUNC18-1 in the brain (see https://stxbp1.cncr.nl/). FGA is part of the Center for Neurogenomics and Cognitive Research based at the Vrije Universiteit and Amsterdam UMC. Along with fundamental research, the department is setting up an ongoing clinical research project with the Department of Clinical Genetics. The paediatric genetic section, headed by Dr. Mieke van Haelst, is highly experienced in dissecting genotype – phenotype correlations for genetic conditions. The present project is aimed at dissecting genotype-phenotype correlations of STXBP1-encephalopathy patients.