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当前癫痫症诊断性基因检测的实践。

Current practice in diagnostic genetic testing of the epilepsies.

机构信息

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa

出版信息

Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448.

Abstract

Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledge and analysis platforms have begun to make clinical genetic testing accessible for, in principle, people of all ages with epilepsy. For this reason, the Genetics Commission of the International League Against Epilepsy (ILAE) presents this update on clinical genetic testing practice, including current techniques, indications, yield of genetic testing, recommendations for pre- and post-test counseling, and follow-up after genetic testing is completed. We acknowledge that the resources vary across different settings but highlight that genetic diagnostic testing for epilepsy should be prioritized when the likelihood of an informative finding is high. Results of genetic testing, in particular the identification of causative genetic variants, are likely to improve individual care. We emphasize the importance of genetic testing for individuals with epilepsy as we enter the era of precision therapy.

摘要

癫痫遗传学是一个快速发展的领域,新的疾病相关基因、与癫痫相关的新机制以及精准医疗方法不断被发现。在过去的十年中,基因组学知识和分析平台的进步开始使临床基因检测对原则上所有年龄段的癫痫患者都具有可及性。出于这个原因,国际抗癫痫联盟(ILAE)遗传学委员会对临床基因检测实践进行了更新,包括当前的技术、适应症、基因检测的收益、检测前和检测后的咨询建议,以及完成基因检测后的随访。我们承认不同环境下的资源有所不同,但强调当有信息丰富的发现的可能性高时,应优先进行癫痫的基因诊断检测。基因检测的结果,特别是致病基因突变的鉴定,可能会改善个体的治疗效果。随着我们进入精准治疗时代,我们强调对癫痫患者进行基因检测的重要性。

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