STXBP1-associated developmental and epileptic encephalopathy type 4

Abstract

The increased frequency of testing has led to STXBP1 variants being identified as one of the variants associated with neurological disorders. We describe genotype-phenotype correlations of three patients with STXBP1-associated developmental and epileptic encephalopathy that we observed. Our observations confirmed that the onset of seizures in two patients in the neonatal period was similar to Ohtahara syndrome, while no seizures were recorded in one girl with severe psychoneurological deficit. The seizures required the use of three anticonvulsants, but severe cognitive and motor deficits persist as the child grows older. Conclusions. Patients with neonatal seizures resistant to AEDs and psychoneurological deficits should whole exome or whole genome sequencing to search STXBP1 variants.