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Präzisionsmedizin für genetische Epilepsien – am Anfang des Weges?

Precision medicine in epilepsy—where are we now?

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Zusammenfassung

Entwicklungsbedingte und epileptische Enzephalopathien beschreiben genetische Erkrankungen, die mit den Leitsymptomen von epileptischen Anfällen und geistigen bzw. globalen Entwicklungsstörungen einhergehen. Durch Klärung der genetischen Ursache besteht zunehmend ein besseres Verständnis für die gestörten zellulären Signalwege und die daraus resultierenden Störungen des Gleichgewichts erregender und inhibitorischer neuronaler Einflüsse. Die Kenntnis spezifischer Veränderungen an Rezeptoren, Ionenkanälen und Signalwegproteinen führt damit zur Identifizierung neuer pharmakologischer Angriffspunkte, die zunehmend in kleineren und größeren Fallstudien publiziert werden. Im klinischen Alltag ergeben sich dadurch neue Behandlungsansätze für sonst schwere und therapierefraktäre Entwicklungsstörungen und Epilepsiesyndrome. Die genaue Analyse der genetischen Veränderung erlaubt in einer steigenden Zahl von genetischen Epilepsien die Entwicklung spezifischer Therapieansätze, welche weiterer nationaler und internationaler Studien zur Bestätigung bedürfen.

Abstract

Developmental and epileptic encephalopathies of infancy comprise a heterogeneous group of neurodevelopmental disorders characterized by marked epileptic activity associated with developmental regression. The increasing number of known genes and the pathophysiological mechanism drive the way toward novel precision therapies. An increasing number of reports on specific treatments open new pathways for disease modifying therapies that need international collaborative studies to provide evidence in these rare genetic diseases.

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Danksagung

Ich danke der Dietmar Hopp Stiftung für finanzielle Unterstützung zur Erforschung der Grundlagen epileptischer Enzephalopathien (Projekt: 1DH1813319). Ich bedanke mich bei Prof. Dr. Gerhard Kluger für hilfreiche Kommentare zum Manuskript.

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Authors and Affiliations

  1. Epilepsiezentrum mit Epilepsieambulanz, Sektion für Neuropädiatrie und Stoffwechselmedizin, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland

    Steffen Syrbe

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Correspondence to Steffen Syrbe.

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S. Syrbe gibt an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Syrbe, S. Präzisionsmedizin für genetische Epilepsien – am Anfang des Weges?. Z. Epileptol. 34, 161–167 (2021). https://doi.org/10.1007/s10309-021-00409-0

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  • DOI: https://doi.org/10.1007/s10309-021-00409-0

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