STXBP1 -Related Disorder ( STXBP1 -RD) and SYNGAP1 -Related Disorder ( SYNGAP1 -RD) are two common genetic causes of epilepsy, developmental delay, and intellectual disability. STXBP1 -RD and SYNGAP1 -RD are potential targets for drug and gene therapy, but there is limited information in the literature describing the natural history of either disorder which impedes the development of possible therapeutics. The current paper is a description of a prospective natural history study of STXBP1 -RD and SYNGAP1 -RD which will assess the clinical spectrum of each disorder through detailed developmental assessments, seizure histories, behavioral assessments, and electronic medical record reconstruction. By studying STXBP1 -RD and SYNGAP1-RD with both cross sectional and longitudinal assessments, we aim to improve clinical trial readiness so that potential treatments can be assessed expeditiously.
McKee et al. (Mon,) studied this question.