Indications for genetic diagnosis of epilepsy

Genetic research in patients with epilepsy has led to the identification of many underlying genetic defects during recent years. For daily clinical practice, this opens the possibility of diagnostically relevant genetic tests in patients with confirmed or suspected epilepsy. It also enables a risk assessment of epilepsy in people with a positive family history, and genetic counselling of families concerning the risk for future offspring to develop epilepsy. Beside these benefits of genetic testing, it also has potential harms and problems; in particular, testing and counselling in healthy probands is complex. In addition, clinicians are often not familiar with the increasing number of available tests and are not able to judge whether and when tests should be offered. This article is intended to provide a guideline for genetic testing in epilepsies based on the current state of the art. Parts of this article are derived from a report of the Genetics Commission of the International League against Epilepsy (ILAE) from 2010 dealing with this topic.