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Die historische Entwicklung genetischer Epilepsiediagnostik

The historical development of genetic epilepsy diagnosis

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Zusammenfassung

Die genetische Diagnostik hat in der Abklärung von Epilepsieerkrankungen stark an Bedeutung gewonnen. So ist es mittlerweile möglich, bei einem signifikanten Anteil der Patienten innerhalb überschaubarer Zeit und zu vertretbaren Kosten die genetische Ursache einer Erkrankung zu identifizieren. Sie bringt somit in zahlreichen Fällen diagnostische Gewissheit und beeinflusst die Behandlung. Die Kenntnis der genetischen Diagnose erlaubt Rückschlüsse auf das tatsächliche phänotypische Spektrum, den Verlauf, die Vererbung und gelegentlich sogar auf die Wahl der Therapie.

Abstract

Genetic testing has increasingly gained importance for diagnosing epilepsy disorders. Currently, the underlying genetic cause can be identified in a significant proportion of patients within an appropriate time and at reasonable costs. In numerous cases, it thus provides diagnostic certainty and influences treatment. Knowing the genetic cause of a disorder allows for conclusions on the true phenotypic spectrum, the course and inheritance, and occasionally it influences the choice of therapy.

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Correspondence to Johannes R. Lemke.

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H. O. Heyne und J. R. Lemke geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Heyne, H.O., Lemke, J.R. Die historische Entwicklung genetischer Epilepsiediagnostik. Z. Epileptol. 29, 53–56 (2016). https://doi.org/10.1007/s10309-015-0031-4

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  • DOI: https://doi.org/10.1007/s10309-015-0031-4

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