CNCR and VUmc together host the first STXBP1-E Patient Clinic

25 September 2018

On Oct. 13, the 1st STXBP1 Patient Clinic Day will take place at VUmc in Amsterdam. The day is part of our studies on STXBP1-Encephalopathy (STXBP1-E) in a collaboration between FGA-CNCR, Clinical Genetics and VU spin-off company NBT Analytics.

The FGA department, led by Prof. Matthijs Verhage, has a long-standing interest and expertise in studying the role of the Munc18-1 protein in neurons. In the last decade, mutations in the human gene encoding MUNC18-1, the STXBP1-gene, were found to cause a form of early infantile encephalopathy now called STXBP1 Encephalopathy (STXBP1-E, see STXBP1 site). The clinical features presented by patients with an STXBP1 mutation are highly diverse. Symptoms include intellectual disability, epilepsy and autism. The pathological mechanisms underlying the symptoms remain to be elucidated and research has primarily focused on descriptions of individual cases using diverse methodology and criteria. Our collaboration aims to change this landscape and to deliver a more systematic description of shared and non-shard symptoms and to link these insights to studies on animal- and cell models for this disease. Together, these studies are expected to gain better insight into the clinical profile, but also the pathogenesis of STXBP1-E.

As part of these efforts, patients are invited to STXBP1 Clinic Days organized in different countries. The first Clinic day will take place in Amsterdam. During the Clinic day, a multilevel assessment is made by a multidisciplinary research team. A detailed clinical profile using standardized criteria will be made of participating STXBP1-E patients. Secondly, electro-encephalopgraphy(EEG) will be performed and biomarkers will be analysed using the analytical tools developed by NBT Analytics. Lastly, the consequences of STXBP1 mutations at the molecular/cellular level will be investigated through the use of induced pluripotent stem cell (iPSC) technology. Together, this multilevel cohort study will provide the first in depth systematic and quantitative assessment of STXBP1-E patients. Analysis of these data obtained will provide new insights into the possible disease mechanisms of STXBP1-Encephalopathy. In addition, the systematic assessment of the phenotypic characteristics can help achieving better diagnoses with the ultimate aim of providing the best treatment.

In addition to collecting these measurements, the Clinic provides an opportunity for patient families to meet members of the STXBP1 research team, to discuss their current and future research into STXBP1-E, and to meet other patient families to exchange experiences.

The first clinic data is organized by Hanna Lammertse, Annemiek van Berkel and Mara Misra-Isrie, with the help of a multidisciplinary team from the Departments of Clinical Genetics, Neurology, Dermatology and Radiology.

This study is sponsored by the URF project that Hanna and Annemiek funded by the Vrije Universiteit 

For more information about our work on Munc18-1 and STXBP1-E, please visit the STXBP1 site or by contact us at