Christian Malte Boßelmann1, Victoria San Antonio-Arce2, Andreas Schulze-Bonhage2, Susanne Fauser3, Pia Zacher4, Thomas Mayer4, Javier Aparicio5, Kristina Albers3, Thomas Cloppenborg3, Wolfram Kunz6, Rainer Surges6, Steffen Syrbe7, Yvonne Weber8, Stefan Wolking9. 1. Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard Karls University of Tübingen, Tübingen, Germany. 2. Freiburg Epilepsy Center, Full Member of the ERN EpiCARE, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. 3. Department of Epileptology (Krankenhaus Mara), Medical School, Bielefeld University, Bielefeld, Germany. 4. Epilepsy Center Kleinwachau, Radeberg, Germany. 5. Epilepsy Surgery Unit, Full Member of the ERN EpiCARE, Sant Joan de Déu Barcelona Children's, Universitat de Barcelona, Barcelona, Spain. 6. Department of Epileptology, University Hospital Bonn, Bonn, Germany. 7. Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. 8. 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. 9. Department of Neurology and Epileptology, University of Aachen, Aachen, Germany. Electronic address: swolking@ukaachen.de.
Abstract
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.
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.
Keywords:
Developmental and epileptic encephalopathy; Epilepsy genetics; Epilepsy surgery; Next generation sequencing in epilepsy; Sporadic and familial epilepsies