Identification of New Variants Related to Epilepsy in the Reanalysis of NGS Data of Patients with Epilepsy and Intellectual Disorders
Objective: Epilepsy is a chronic, noncommunicable brain disorder affecting individuals of all ages, with over 50 million cases worldwide. Advances in next-generation sequencing have enabled the identification of disease-related gene mutations; however, the yield of whole-exome sequencing (WES) for patients with epilepsy remains variable. Given our limited knowledge and the continual updates in genetic databases, reanalysis of older sequencing results may reveal relevant mutations and uncover false negatives.
Materials and Methods: In this study, we reanalyzed the initial WES data and clinical information for 12 patients with previously negative results.
Results: New mutations were identified in 5 patients and associated with 5 genes.
Conclusion: Thus, for patients with a strong suspicion of genetic disease, re-evaluating WES data is recommended even if the initial findings are negative.