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STXBP1

Welcome

This website provides information on patients with mutations in the STXBP1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the STXBP1 gene is a multisystem disorder characterized by seizures, developmental delay, intellectual disability (ID) and movement disorders. Other possible features are feeding difficulties, autism spectrum disorder (ASD) and severe speech delay.

Not all individuals with a mutation in the STXBP1 gene have these features.

Matthijs Verhage, Full Professor, Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, and Department of Clinical Genetics VU University Medical Center, Amsterdam, The Netherlands, matthijs@cncr.vu.nl

Mala Misra-Isrie, MD, PhD, coordinating clinician for STXBP1-E patients, Amsterdam UMC, location VUmc, Department of Clinical Genetics, De Boelelaan 1117, Amsterdam, The Netherlands, m.misra@vumc.nl

Jovana Kovačević, PhD student, Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, The Netherlands, j.kovacevic@vu.nl

Mieke van Haelst, MD, PhD, specialised in organising clinics for “Rare Genetic disorders”, Amsterdam UMC, location VUmc, Department of Clinical Genetics, De Boelelaan 1117, Amsterdam, The Netherlands, m.vanhaelst@vumc.nl

To share and collect information about clinic management and research projects.

Clinical characteristics

Clinical characteristics

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Patient overview (2)