Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis

INTRODUCTIONSTXBP1 syndrome is a genetic disorder that affects one of the regulatory mechanisms of neurotransmitter release by the synaptic vesicles and has serious implications for neurodevelopment. Symptoms usually appear in the first days or months of life, and very often include epilepsy, psychomotor delay, and intellectual disability. Although it was initially regarded as an early epileptic encephalopathy, the increase in the number of cases diagnosed, as well as the advances in research have been expanding the phenotype and characterising this disease as a disorder of neurodevelopment. Furthermore, on being linked to epileptic problems, this genetic mutation could be associated with many cases of intellectual disability and movement disorders of unknown cause. OBJECTIVESTo describe the characteristics of the patients identified in Spain with STXBP1 syndrome, and the implications for the diagnosis of these characteristics. PATIENTS AND METHODSThe details are presented on 17 individuals, aged between 2 years and 17 years, diagnosed in Spain with STXBP1 syndrome. CONCLUSIONSThere is a clear under-diagnosis of STXBP1 syndrome in Spain. Besides the inherent diversity of the disorder, with the increase in the number diagnoses the variability of the phenotype is even wider. The description of the alarm signs is necessary in order to identify those individuals with less prototypical manifestations of the disorder.