Genetic testing in the epilepsies-developments and dilemmas.
Genetic testing in the epilepsies-developments and dilemmas.
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DOI：
10.1038/nrneurol.2014.60
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发表时间：
2014-05
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在过去的二十年里，被认为在癫痫中起作用的基因数量急剧增加。癫痫相关基因检测的可用性可能有助于澄清诊断和预后，选择最佳治疗方法，并为计划生育提供信息。对于一些患者来说，即使在缺乏明确的临床实用性的情况下，确定癫痫的特定遗传原因也具有重要的个人价值。基因检测的可用性也提出了新的问题，这些问题才刚刚开始考虑。这些问题包括教育医生何时以及如何检测患者的重要性日益增加，需要确保受影响的个人及其家人能够对检测做出明智的选择并在收到结果后获得支持，以及基因检测对受影响的个人，他们的家庭成员和社会的积极和消极后果。
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.