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Genetische Aspekte bei idiopathischen fokalen Epilepsien

Genetic aspects of idiopathic focal epilepsies

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Zusammenfassung

Die genetisch bedingten Formen der idiopathischen fokalen Epilepsien haben aufgrund ihrer Häufigkeit wie der Rolando- und anderen benignen Partialepilepsien einen großen klinischen Stellenwert. Zudem wurden hier die ersten ursächlichen Mutationen in Ionenkanalgenen gefunden, wie z. B. im nikotinischen Acetycholinrezeptor bei der autosomal-dominanten nächtlichen Frontallappenepilepsie oder in spannungsabhängigen Kaliumkanälen bei den benignen Neugeborenenanfällen. Die Genetik hat nicht nur in der Aufklärung der pathophysiologischen Vorgänge der Epilepsien ihren Stellenwert. Sie unterstützt auch die genetische Beratung und kann vereinzelt therapeutische Entscheidungen beeinflussen.

Abstract

Among idiopathic epilepsies, partial forms with a genetic background are of great clinical importance due to their high incidence, for example for Rolandic epilepsy and other benign partial epilepsy syndromes. In addition, the first disease-causing ion channel mutations have been identified, e.g., mutation of the nicotinic acetylcholine receptor in the case of autosomal dominant nocturnal frontal lobe epilepsy or mutation of two potassium channel subunits in benign neonatal seizures. Genetic analyses of patients with epilepsy contribute not only to a better understanding of the pathophysiology but also help genetic counseling and may also influence therapeutic decisions in selected rare cases.

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Authors and Affiliations

  1. Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie Institut für Klinische Hirnforschung,Universitätsklinikum Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Deutschland

    F. Becker & S. Maljevic

  2. Abt. Neuropädiatrie, Universitätsklinikum Gießen und Marburg, Marburg, Deutschland

    B.A. Neubauer

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  1. F. Becker
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  2. S. Maljevic
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  3. B.A. Neubauer
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Correspondence to F. Becker.

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Becker, F., Maljevic, S. & Neubauer, B. Genetische Aspekte bei idiopathischen fokalen Epilepsien. Z. Epileptol. 24, 93–99 (2011). https://doi.org/10.1007/s10309-011-0182-x

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  • DOI: https://doi.org/10.1007/s10309-011-0182-x

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