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Epilepsie – neue Diagnostik, alte Medikamente?

Die Konsequenzen der Epilepsiegenetik

Epilepsy—new diagnostic tools, old drugs?

Therapeutic consequences of epilepsy genetics

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Zusammenfassung

Hintergrund

Die Epilepsiegenetik hat in den letzten Jahren Fortschritte gemacht, sodass vor allem bei schwereren Epilepsiesyndromen oft die Ätiologie der Erkrankung geklärt werden kann. Dennoch wird ihr Nutzen teilweise infrage gestellt, da viele der molekulargenetischen Befunde nicht zu einer Therapieanpassung und damit zu einer Verbesserung der Prognose führen. Zusätzlich wird die Interpretation der Untersuchungsergebnisse durch den Anteil von Befunden unklarer Signifikanz erschwert.

Ziel der Arbeit

In der vorliegenden Arbeit werden die Argumente für eine breite genetische Diagnostik bei Kindern mit Epilepsien vorgestellt. Verschiedene genetische Erkrankungen werden skizziert, bei denen eine molekulargenetische Diagnose direkte therapeutische Konsequenzen hat. Der indirekte Nutzen einer Diagnosesicherung, ob durch Vermeidung unnötiger Untersuchungen, Abschätzung des Wiederholungsrisikos oder psychische Entlastung der betreuenden Personen, ist ebenfalls zu nennen.

Schlussfolgerung

Trotz noch weniger relevanter therapeutischer Neuerungen überwiegen die Vorteile einer breiten epilepsiegenetischen Diagnostik

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.

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Authors and Affiliations

  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

    M. Tacke, L. Gerstl, T. Roser &  I. Borggraefe

  2. Abteilung für Neuropädiatrie, Sozialpädiatrie und Epileptologie, Universitätskinderklinik, Universität Gießen-Marburg, Gießen, Deutschland

    B. A. Neubauer

  3. Neurologische Klinik und Poliklinik & Deutsches Schwindel- und Gleichgewichtszentrum (DSGZ), Campus Großhadern, Klinikum der Universität München, München, Deutschland

    J. Rémi

  4. Interdisziplinäres Epilepsiezentrum am Campus Großhadern und im Dr. von Haunerschen Kinderspital, Klinikum der Universität München, München, Deutschland

    J. Rémi &  I. Borggraefe

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  1. M. Tacke
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Correspondence to I. Borggraefe.

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Interessenkonflikt

I. Borggräfe hat Honorarvorträge für die Firmen Desitin und Novartis gehalten und war als Berater („advisory boards“) für Desitin, UCB und Bial tätig. T. Roser hat Honorarvorträge für die Firma Novartis gehalten. M. Tacke hat Honorarvorträge für Desitin gehalten. L. Gerstl hat Honorarvorträge für Desitin gehalten. B.A. Neubauer war als Berater („advisory boards“) für UCB, Eisai und Zogenix tätig. J. Rémi hat Vorträge für UCB, Desitin, Eisai und VANDA gehalten und war als Berater („advisory boards“) für UCB und VANDA tätig.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Tacke, M., Neubauer, B.A., Gerstl, L. et al. Epilepsie – neue Diagnostik, alte Medikamente?. Nervenarzt 88, 1385–1394 (2017). https://doi.org/10.1007/s00115-017-0427-7

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