This website provides information on patients with mutations in the SYT1 (Synaptotagmin 1) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SYT1 gene is a brain-related disorder characterized by floppiness at birth, delayed developmental milestones, ophthalmic problems and abnormal brain electrical activity on EEG. Some individuals also develop movement disorders (such as dystonia, chorea and ataxia). Sleep problems and feeding problems are also very common.
Not all individuals with a mutation in the SYT1 gene have these features, and the severity of problems varies a great deal between individuals.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SYT1 gene.
Dr Kate Baker, MD, PhD, University of Cambridge, Cambridge, UK, email@example.com
Dr Anna Kolesnik-Taylor, PhD, University of Cambridge, Cambridge, UK, firstname.lastname@example.org