Whole Exome Sequencing Results of 101 Epilepsy-Related Patients

Next-generation sequencing technologies (NGS) are powerful diagnostic tools used to elucidate the genetic etiology of epilepsy, and with its routine use, hundreds of epilepsy genes have been found. Due to the small number of cases, the data on the diversity of the findings of the diseases associated with these genes is limited, and the spectrum of findings becomes clear with the new cases identified. In this study, the clinical findings and whole exome sequencing (WES) analysis results of 101 epilepsy-related patients in the archive of Gazi University Faculty of Medicine Department of Medical Genetics 2017-2020 were evaluated by considering the current literature data. The diagnostic rate of WES analysis was found 45%. As a result of molecular diagnosis, 10 patients were suitable for an evidence-based treatment option for epilepsy. It was observed that the pathogenicity classification of some uncertain significance variants was changed with reanalysis. In addition, some evidence was found that some diagnoses which were not clearly associated with epilepsy could be related. These results emphasize that WES analysis is a powerful diagnostic tool in the genetic diagnosis of epilepsy. In addition, this study showed that re-evaluations by current literature data could increase the diagnosis rate of WES analysis. In many patients, molecular diagnoses provided genetic counselling about treatment options, prognosis, risk of recurrence, diagnosis of affected family members and prenatal diagnosis in cases with a high risk of recurrence.
Keywords: Epilepsy, epilepsy genetics, whole exome sequencing