M Tacke1, B A Neubauer2, L Gerstl1, T Roser1, J Rémi3,4, I Borggraefe5,6. 1. Abteilung für Pädiatrische Neurologie und Entwicklungsneurologie, LMU Zentrum - iSPZ Hauner, Sektion für Pädiatrische Epileptologie, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Universität München, Lindwurmstr. 4, 80337, München, Deutschland. 2. Abteilung für Neuropädiatrie, Sozialpädiatrie und Epileptologie, Universitätskinderklinik, Universität Gießen-Marburg, Gießen, Deutschland. 3. Neurologische Klinik und Poliklinik & Deutsches Schwindel- und Gleichgewichtszentrum (DSGZ), Campus Großhadern, Klinikum der Universität München, München, Deutschland. 4. Interdisziplinäres Epilepsiezentrum am Campus Großhadern und im Dr. von Haunerschen Kinderspital, Klinikum der Universität München, München, Deutschland. 5. Abteilung für Pädiatrische Neurologie und Entwicklungsneurologie, LMU Zentrum - iSPZ Hauner, Sektion für Pädiatrische Epileptologie, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Universität München, Lindwurmstr. 4, 80337, München, Deutschland. ingo.borggraefe@med.uni-muenchen.de. 6. Interdisziplinäres Epilepsiezentrum am Campus Großhadern und im Dr. von Haunerschen Kinderspital, Klinikum der Universität München, München, Deutschland. ingo.borggraefe@med.uni-muenchen.de.
Abstract
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance. OBJECTIVE: This publication presents the arguments in favour of a broad use of genetic investigations for children with epilepsies. Several diseases where a genetic diagnosis does in fact have direct therapeutic consequences are mentioned. In addition, the indirect impact of an established etiology, encompassing the avoidance of unnecessary diagnostic measures, possibility of genetic counselling, and the easing of the psychologic burden for the caregivers, should not be underestimated. CONCLUSION: The arguments in favour of broad genetic diagnostics prevail notwithstanding the lack of relevant new developments regarding the therapy.
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance. OBJECTIVE: This publication presents the arguments in favour of a broad use of genetic investigations for children with epilepsies. Several diseases where a genetic diagnosis does in fact have direct therapeutic consequences are mentioned. In addition, the indirect impact of an established etiology, encompassing the avoidance of unnecessary diagnostic measures, possibility of genetic counselling, and the easing of the psychologic burden for the caregivers, should not be underestimated. CONCLUSION: The arguments in favour of broad genetic diagnostics prevail notwithstanding the lack of relevant new developments regarding the therapy.
Authors: Wilhelmina G Leen; Ron A Wevers; Erik-Jan Kamsteeg; Hans Scheffer; Marcel M Verbeek; Michèl A Willemsen Journal: JAMA Neurol Date: 2013-11 Impact factor: 18.302
Authors: Janice O Okeke; Virginia E Tangel; Shawn T Sorge; Dale C Hesdorffer; Melodie R Winawer; Jeff Goldsmith; Jo C Phelan; Wendy K Chung; Sara Shostak; Ruth Ottman Journal: Epilepsia Date: 2014-09-29 Impact factor: 5.864
Authors: Markus Wolff; Katrine M Johannesen; Ulrike B S Hedrich; Silvia Masnada; Guido Rubboli; Elena Gardella; Gaetan Lesca; Dorothée Ville; Mathieu Milh; Laurent Villard; Alexandra Afenjar; Sandra Chantot-Bastaraud; Cyril Mignot; Caroline Lardennois; Caroline Nava; Niklas Schwarz; Marion Gérard; Laurence Perrin; Diane Doummar; Stéphane Auvin; Maria J Miranda; Maja Hempel; Eva Brilstra; Nine Knoers; Nienke Verbeek; Marjan van Kempen; Kees P Braun; Grazia Mancini; Saskia Biskup; Konstanze Hörtnagel; Miriam Döcker; Thomas Bast; Tobias Loddenkemper; Lily Wong-Kisiel; Friedrich M Baumeister; Walid Fazeli; Pasquale Striano; Robertino Dilena; Elena Fontana; Federico Zara; Gerhard Kurlemann; Joerg Klepper; Jess G Thoene; Daniel H Arndt; Nicolas Deconinck; Thomas Schmitt-Mechelke; Oliver Maier; Hiltrud Muhle; Beverly Wical; Claudio Finetti; Reinhard Brückner; Joachim Pietz; Günther Golla; Dinesh Jillella; Karen M Linnet; Perrine Charles; Ute Moog; Eve Õiglane-Shlik; John F Mantovani; Kristen Park; Marie Deprez; Damien Lederer; Sandrine Mary; Emmanuel Scalais; Laila Selim; Rudy Van Coster; Lieven Lagae; Marina Nikanorova; Helle Hjalgrim; G Christoph Korenke; Marina Trivisano; Nicola Specchio; Berten Ceulemans; Thomas Dorn; Katherine L Helbig; Katia Hardies; Hannah Stamberger; Peter de Jonghe; Sarah Weckhuysen; Johannes R Lemke; Ingeborg Krägeloh-Mann; Ingo Helbig; Gerhard Kluger; Holger Lerche; Rikke S Møller Journal: Brain Date: 2017-05-01 Impact factor: 13.501
Authors: David Neal Franz; Elena Belousova; Steven Sparagana; E Martina Bebin; Michael Frost; Rachel Kuperman; Olaf Witt; Michael H Kohrman; J Robert Flamini; Joyce Y Wu; Paolo Curatolo; Petrus J de Vries; Vicky H Whittemore; Elizabeth A Thiele; James P Ford; Gaurav Shah; Helene Cauwel; David Lebwohl; Tarek Sahmoud; Sergiusz Jozwiak Journal: Lancet Date: 2012-11-14 Impact factor: 79.321
Authors: O K Steinlein; J C Mulley; P Propping; R H Wallace; H A Phillips; G R Sutherland; I E Scheffer; S F Berkovic Journal: Nat Genet Date: 1995-10 Impact factor: 38.330
Authors: Jacqueline A French; John A Lawson; Zuhal Yapici; Hiroko Ikeda; Tilman Polster; Rima Nabbout; Paolo Curatolo; Petrus J de Vries; Dennis J Dlugos; Noah Berkowitz; Maurizio Voi; Severine Peyrard; Diana Pelov; David N Franz Journal: Lancet Date: 2016-09-06 Impact factor: 79.321