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Kinder- und Jugendmedizin 2022; 22(05): 309-323
DOI: 10.1055/a-1915-9895
Schwerpunkt

Genetische Aspekte kindlicher Epilepsiesyndrome

Genetic aspects of childhood epilepsy syndromes
Steffen Syrbe
1   Sektion für Pädiatrische Epileptologie, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg
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ZUSAMMENFASSUNG

Kindliche Epilepsiesyndrome sind Erkrankungen mit früh beginnenden epileptischen Anfällen und assoziierten Störungen der motorischen und kognitiven Entwicklung. Die Klassifikation der Epilepsiesyndrome nach elektroklinischen Kriterien bildet die Grundlage für die Therapie und die prognostische Einschätzung. Zunehmend kann eine steigende Zahl monogenen Ursachen zugeordnet werden. Die Kenntnis des genetischen Hintergrundes erlaubt so eine Einteilung nach pathophysiologischen zellulären Ursachen, kann den diagnostischen Prozess erleichtern und die Therapieentscheidung zukünftig unterstützen.

ABSTRACT

Childhood Epilepsy syndromes are neurodevelopmental disorders characterized by seizures, epileptic activity and associated comorbidities of motor and cognitive development. The classification in specific electroclinical syndromes allows for treatment decisions and prognostic counselling. Increasingly, monogenic etiologies have been identified to underly specific syndromes. This knowledge of the genetic background allows for a more precise clinical diagnosis and can help in guiding treatment and prognostic counselling.

Schlüsselwörter

Epileptische Enzephalopathie - monogene Ursache - Kinder - Panel - Exom

Keywords

Epileptic encephalopathy - monogenic etiology - children - panel - exome


Publication History

Article published online:
08 November 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG,
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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