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Nat Rev Neurol. 2014 May;10(5):293-9. doi: 10.1038/nrneurol.2014.60. Epub 2014 Apr 15.

Genetic testing in the epilepsies-developments and dilemmas.

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Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
Department of Sociology, Brandeis University, 415 South Street, Waltham, MA 02454, USA.
Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, and Department of Epidemiology, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, NY 10032, USA.


In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsy-related genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.

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