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Nervenheilkunde 2019; 38(12): 902-910
DOI: 10.1055/a-0952-6908
Schwerpunkt
© Georg Thieme Verlag KG Stuttgart · New York

Genetische Ursachen von Epilepsien

Neue Erkenntnisse und praktische Anwendung heute und in ZukunftGenetic causes of epilepsy
Stefan Wolking
1   Neurologie mit Schwerpunkt für Epileptologie, Hertie-Institut für klinische Hirnforschung, Universitätsklinikum Tübingen
2   Department of Neurosciences, CHUM Research Center, University of Montreal
,
Holger Lerche∗
1   Neurologie mit Schwerpunkt für Epileptologie, Hertie-Institut für klinische Hirnforschung, Universitätsklinikum Tübingen
› Author Affiliations
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Publication History

Publication Date:
17 December 2019 (online)

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ZUSAMMENFASSUNG

Die Erkenntnisse über genetische Ursachen von Epilepsien haben in den vergangenen Jahren rasant zugenommen. Neben epileptischen Enzephalopathien stehen mittlerweile die genetischen generalisierten sowie die nicht läsionellen fokalen Epilepsien stärker im Fokus. An die genetische Ursache angepasste Behandlungswege im Sinne der ‚Precision Medicine‘ eröffnen zunehmend individualisierte Therapieoptionen. Die Pharmakogenetik könnte zudem die Vorhersage von Therapieansprechen bzw. Nebenwirkungen unterstützen und somit die Therapiesicherheit erhöhen. Genetische Diagnostik ist für eine zunehmende Anzahl von Epilepsiepatienten sinnvoll und wird weiter an Bedeutung zunehmen.

ABSTRACT

The knowledge about genetic causes of epilepsies has quickly expanded in the last years. Besides developmental and epileptic encephalopathies, genetic generalized epilepsies and non-acquired focal epilepsies enter the limelight. The advent of precision medicine, i.e. therapies adapted to specific genetic causes, opens up individualized treatment options. Pharmacogenomics might help to predict treatment response and adverse drug reactions and thus improve patient safety. Genetic diagnostics is a valuable tool for an increasing share of patients with epilepsy and will become more important in the near future.

Schlüsselwörter

Genetische generalisiete Epilepsien - fokale nicht-läsionelle Epilepsien - Precision Medicine - Pharmakogenetik

Key words

Genetic generalized epilepsies - non-acquired focal epilepsies - precision medicine - pharmacogenomics
 

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