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Genetic testing in the epilepsies—developments and dilemmas

Nature Reviews Neurology volume 10, pages 293–299 (2014)Cite this article

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Abstract

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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Acknowledgements

The authors acknowledge grant support from the NIH, including K23 NS069784 (to A.P.), R01 NS078419 (to R.O. and S.S.), and U01 NS077276, U01 NS077367, and P50 HG007257 (to R.O.).

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Authors and Affiliations

  1. Department of Neurology, Epilepsy Genetics Program, Boston Children's Hospital, 300 Longwood Avenue, Boston, 02115, MA, USA

    Annapurna Poduri & Beth Rosen Sheidley

  2. Department of Sociology, Brandeis University, 415 South Street, Waltham, 02454, MA, USA

    Sara Shostak

  3. Gertrude H. Sergievsky Center and Department of Neurology, and Department of Epidemiology, College of Physicians and Surgeons, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, 10032, NY, USA

    Ruth Ottman

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All authors contributed equally to all aspects of the manuscript, including researching data for the article, writing the initial draft, review or editing of the manuscript before submission, and discussion of its content.

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Correspondence to Ruth Ottman.

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Poduri, A., Sheidley, B., Shostak, S. et al. Genetic testing in the epilepsies—developments and dilemmas. Nat Rev Neurol 10, 293–299 (2014). https://doi.org/10.1038/nrneurol.2014.60

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