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Relevante genetische Befunde für die Praxis

Relevant genetic findings for practical applications

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Zusammenfassung

Die genetische Testung gewinnt in der klinischen Epileptologie zunehmend an Bedeutung. Zum einen dient der Nachweis einer Mutation der frühzeitigen Diagnosesicherung, die neben der Prognoseeinschätzung abhängig von der Mutation auch die Wahl der antiepileptischen Medikation beeinflussen kann. Zum anderen kann eine frühzeitige genetische Beratung erfolgen. In dem vorliegenden Artikel werden die wesentlichen Genvarianten dargestellt, die einen Einfluss auf Therapieentscheidungen haben können. Dies betrifft nicht nur Mutationen, die aufgrund der funktionellen Konsequenzen die Vermeidung oder Bevorzugung eines Präparates oder einer Methode anzeigen, sondern auch Nebenwirkungen von antikonvulsiven Medikamenten vorhersagen können.

In der Zukunft sind durch das rasch wachsende Feld der Epilepsiegenetik und der Pharmakogenetik immer mehr Medikamente für eine spezifische und individualisierte Behandlung von Epilepsiepatienten zu erwarten.

Abstract

Genetic testing is an emerging field in clinical epileptology. It is an important tool for verifying the clinical diagnosis, which enables us to predict the long-term outcome of a patient. In certain cases, the detection of a mutation even modifies our therapeutic approach. It also helps us in genetic counselling. This article focusses on gene variants that have a possible influence on therapeutic decisions. These are not only mutations which indicate whether a drug should be preferred or avoided, based on the functional consequences, but may also predict side effects.

Genetics and pharmacogenetics in epilepsy are fast growing fields which promise to provide much more information to clinicians in the future to intensify individualized anticonvulsive treatment.

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Authors and Affiliations

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

    Josua Kegele &  Yvonne G. Weber

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  1. Josua Kegele
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  2. Yvonne G. Weber
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Correspondence to Yvonne G. Weber.

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J. Kegele und Y. G. Weber geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Kegele, J., Weber, Y.G. Relevante genetische Befunde für die Praxis. Z. Epileptol. 29, 87–92 (2016). https://doi.org/10.1007/s10309-015-0035-0

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  • DOI: https://doi.org/10.1007/s10309-015-0035-0

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