STXBP1 and Epileptic encephalopathy: In their database using data standardized using Human Phenotype Ontology terminology, they identified that patients with STXBP1 pathogenic variants most often presented with a combination of neurodevelopmental disorders, communication difficulties, gross motor delay, early-onset epileptic encephalopathy (including EIDEE and IESS), and movement disorders, with the remainder presenting with a variety of other DEEs [2].