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Genetische Ursachen epileptischer Enzephalopathien

Genetic etiologies of epileptic encephalopathies

  • Leitthema
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Zusammenfassung

Genetisch bedingte Erkrankungen stellen eine wichtige Ursache schwerer frühkindlicher Epilepsiesyndrome und epileptischer Enzephalopathien dar. In den letzten Jahren wurden zahlreiche verantwortliche Gene identifiziert. Das phänotypische Spektrum bekannter genetisch bedingter Epilepsieformen wurde erheblich erweitert. Die Aufklärung genetischer Ursachen bedeutet die ätiologische Klärung, ermöglicht die genetische Beratung betroffener Familien und eröffnet in einigen Fällen spezifische Behandlungsmöglichkeiten. Im Rahmen dieses Beitrags werden Krankheitsbilder, genetische Grundlagen und spezifische Therapieoptionen beschrieben sowie Einschätzungen der diagnostischen Bedeutung der einzelnen Gene gegeben.

Abstract

Genetically determined disorders comprise an important etiological entity for severe infantile epilepsies and epileptic encephalopathies. In the past decade, several causative genes have been identified. In addition, clinical genetic studies have revealed a broadened phenotypic spectrum for various disease-related genes. Identification of the underlying genetic causes will allow for an etiological diagnosis and genetic counseling of affected families. In addition, specific therapeutic options exist for several disorders. In this review, the clinical picture, genetic causes, and relevant therapeutic options are described. Furthermore, the diagnostic relevance of genetic testing with regard to particular genes and disease entities is evaluated.

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Authors and Affiliations

  1. Klinik für Neuropädiatrie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, und Christian Albrechts Universität Kiel, Arnold-Heller-Str. 3 Haus 9, 24105, Kiel, Deutschland

    S. von Spiczak, H. Muhle, I. Helbig & U. Stephani

  2. Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Kiel, und Christian Albrechts Universität Kiel, Kiel, Deutschland

    A. Caliebe

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  1. S. von Spiczak
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  2. A. Caliebe
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  3. H. Muhle
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  4. I. Helbig
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  5. U. Stephani
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Correspondence to S. von Spiczak.

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von Spiczak, S., Caliebe, A., Muhle, H. et al. Genetische Ursachen epileptischer Enzephalopathien. Z. Epileptol. 24, 108–113 (2011). https://doi.org/10.1007/s10309-011-0169-7

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