Genetic testing before epilepsy surgery-An exploratory survey and case collection from German epilepsy centers
Por:
Boßelmann CM, San Antonio-Arce MV, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y and Wolking S
Publicada:
1 feb 2022
Resumen:
Introduction: Genetic testing in people with epilepsy may support presurgical decision-making. It is currently unclear to what extent epilepsy centres use genetic testing in presurgical evaluation. Methods: We performed an exploratory survey among members of the German Society for Epileptology to study the current practice of genetic testing in presurgical evaluation at the respective sites. Survey participants contributed educational case reports. Results: The majority of participants consider genetic testing to be useful in individuals with familial syndromes or phenotypic features suggesting a genetic etiology. We report 25 cases of individuals with a confirmed genetic diagnosis that have previously undergone epilepsy surgery. Our cases demonstrate that a genetic diagnosis has an impact on both the decision-making process during presurgical evaluation, as well as the postoperative outcome. Conclusion: Genetic testing as part of the presurgical work-up is becoming increasingly established in epilepsy centres across Germany. mTORopathies and genetic hypothalamic hamartomas seem to be associated with a generally favourable surgical outcome. Synaptopathies and channelopathies may be associated with a worse outcome and should be considered on a case-by-case level. Prospective studies are needed to examine the impact of an established genetic diagnosis on postsurgical outcome.
Filiaciones:
Boßelmann CM:
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard Karls University of Tübingen, Tübingen, Germany
San Antonio-Arce MV:
Freiburg Epilepsy Center, Full Member of the ERN EpiCARE, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany
Schulze-Bonhage A:
Freiburg Epilepsy Center, Full Member of the ERN EpiCARE, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany
Fauser S:
Department of Epileptology (Krankenhaus Mara), Medical School, Bielefeld University, Bielefeld, Germany
Zacher P:
Epilepsy Center Kleinwachau, Radeberg, Germany
Mayer T:
Epilepsy Center Kleinwachau, Radeberg, Germany
Aparicio J:
Epilepsy Surgery Unit, Full Member of the ERN EpiCARE, Sant Joan de Déu Barcelona Children's, Universitat de Barcelona, Barcelona, Spain
Albers K:
Department of Epileptology (Krankenhaus Mara), Medical School, Bielefeld University, Bielefeld, Germany
Cloppenborg T:
Department of Epileptology (Krankenhaus Mara), Medical School, Bielefeld University, Bielefeld, Germany
Kunz W:
Department of Epileptology, University Hospital Bonn, Bonn, Germany
Surges R:
Department of Epileptology, University Hospital Bonn, Bonn, Germany
Syrbe S:
Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Weber Y:
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard Karls University of Tübingen, Tübingen, Germany
Department of Neurology and Epileptology, University of Aachen, Aachen, Germany
Wolking S:
Department of Neurology and Epileptology, University of Aachen, Aachen, Germany
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