OBJECTIVES: The objectives of this study were to develop a real-world-data (RWD) database for patients with epilepsy to provide further real-world-evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant pathogenicity. METHODS: We stratified patients into Group 1 (with genetic diagnoses) and Group 2 (with no genetic diagnoses). We performed protein 3D modeling of variants of uncertain significance (VUS) in genes. RESULTS: We included 167 patients in our RWD database. We report the genotypes and phenotypes of 44 distinct monogenic genetic epilepsies from 66 patients. The diagnostic yield of clinical exome sequencing (ES) was 31%. Developmental delay, developmental brain malformation, movement disorder, and infantile-onset epilepsy (seizure onset 100 people that we did not diagnose a genetic problem.
Morris et al. (Mon,) studied this question.