Using Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in a Pediatric Cohorte

ABSTRACT Background and Aims: To determine the diagnostic performance of the epilepsy and intellectual disability panel used in the pediatric population, starting in June 2019, at the Regional University Hospital Center of Nancy, France. Design: An observational and retrospective study, at the Regional University Hospital Center of Nancy, France. Materials and Methods: Pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel. All of these patients were either epileptic or had intellectual disability, or both, of undetermined etiology. Results: We included 69 patients in this study. We identified causative mutations in 46.4% (32 of 69 patients) of this cohort after the gene panel and 52.2% (36 patients) including positive results after realization of the Clinical Exome Solution.