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Genetik epileptischer Enzephalopathien

Genetics of epileptic encephalopathies

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Zusammenfassung

Als Ursachen epileptischer Enzephalopathien (EE) sind Läsionen, Fehlbildungen, Stoffwechselerkrankungen und genetische Veränderungen zu nennen. Gerade in den letzten Jahren wurden Fortschritte im Verständnis der Genetik epileptischer Enzephalopathien gemacht. Da diese Erkrankungen einerseits mit wenigen Ausnahmen genetisch sehr heterogen erscheinen und andererseits eine Vielzahl genetischer Untersuchungen verfügbar ist, gestaltet sich die Auswahl der gendiagnostischen Verfahren schwierig. Der vorliegende Beitrag gibt einen Überblick über die genetische Herangehensweise an EE anhand von 3 Leitphänotypen (neonatale EE, infantile EE und EE des Kleinkind-/frühen Kindesalters).

Abstract

The causes of epileptic encephalopathies are lesions, malformations, metabolic diseases and genetic alterations. Advances have very recently been made in the understanding of the genetics of epileptic encephalopathies. Because on the one hand these diseases with few exceptions appear to be genetically very heterogeneous and on the other hand many genetic investigations are available, the selection for genetic diagnostics is difficult. This article gives an overview of the genetic approach to epileptic encephalopathies exemplified by the three main phenotypes (neonatal, infantile and early childhood epileptic encephalopathies).

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Einhaltung ethischer Richtlinien

Interessenkonflikt. I. Helbig, H. Harms, H. Muhle geben an, dass kein Interessenkonflikt besteht. Der Beitrag enthält keine Studien an Menschen oder Tieren.

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  1. Klinik für Neuropädiatrie, Christian-Albrechts-Universität zu Kiel, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Deutschland

    I. Helbig, H. Harms & H. Muhle

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  1. I. Helbig
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  2. H. Harms
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  3. H. Muhle
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Correspondence to I. Helbig.

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Helbig, I., Harms, H. & Muhle, H. Genetik epileptischer Enzephalopathien. Z. Epileptol. 27, 93–99 (2014). https://doi.org/10.1007/s10309-013-0352-0

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