John Libbey Eurotext

Current practice in diagnostic genetic testing of the epilepsies Article à paraître

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Auteurs
1 Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
2 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
3 National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa
4 Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia
5 Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
6 Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Building C, Arnold-Heller-Straße 3, 24105 Kiel, Germany
7 Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA
8 The Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA
9 Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia, Philadelphia, PA, 19104 USA
10 Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104 USA
11 Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg and Murdoch Children’s Research Institute, Royal Children’s Hospital, Victoria, Australia
12 Department of Epileptology and Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany
13 Department of Neurology, University of California, San Francisco, USA
14 Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark
15 Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark
16 Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
17 Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
18 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology London, UK and Chalfont Centre for Epilepsy, Buckinghamshire, UK
19 Center for Molecular Neurology, VIB-University of Antwerp, VIB, Antwerp, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium
20 Department of Paediatric Neurology, Paediatric and Child Health, Red Cross War Memorial Children’s Hospital, Neuroscience Institute, University of Cape Town, South Africa
21 Department of Epileptology and Neurology, University of Aachen, Germany
22 Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany
on behalf of the ILAE Genetics Commission and the Task Force on Clinical Genetic Testing in the Epilepsies
* Authors contributed equally.
• Correspondence:
Dept. of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology,London WC1N 3BG, UK
Dept. of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University and University Hospital Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany

Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledge and analysis platforms have begun to make clinical genetic testing accessible for, in principle, people of all ages with epilepsy. For this reason, the Genetics Commission of the International League Against Epilepsy (ILAE) presents this update on clinical genetic testing practice, including current techniques, indications, yield of genetic testing, recommendations for pre- and post-test counseling, and follow-up after genetic testing is completed. We acknowledge that the resources vary across different settings but highlight that genetic diagnostic testing for epilepsy should be prioritized when the likelihood of an informative finding is high. Results of genetic testing, in particular the identification of causative genetic variants, are likely to improve individual care. We emphasize the importance of genetic testing for individuals with epilepsy as we enter the era of precision therapy.

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