Genetic diagnostics in epilepsies: recommendations of the Commission Epilepsy and Genetics of German Society of Epileptology (German ILAE Chapter)

CLINICAL EPILEPTOLOGY(2023)

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摘要
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.
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关键词
Genetics,Epilepsy,Exome,Genetic testing,Molecular diagnostic techniques
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