부산대학교 도서관

Genetic diagnostics in individuals with epilepsy has become widespread and is indisputably useful. Knowledge of a genetic etiology can inform diagnosis, genetic counseling, therapy, and prognosis of the underlying disease. High-throughput sequencing methods allow for rapid, comprehensive, and cost-effective testing. Here, we present the current recommendations of the Commission “Epilepsy and Genetics” of the German Society for Epileptology (DGfE), which build on the guidelines of the International League Against Epilepsy (ILAE) Commission on Genetics. We provide a practical overview of the indication, practical implementation, interpretation of findings, and potential of precision medicine.