Weber Yvonne G, Biskup Saskia, Helbig Katherine L, Von Spiczak Sarah, Lerche Holger
a Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research , University of Tübingen , Tubingen , Germany.
b CeGaT GmbH , Center for Genomics and Transcriptomics , Tübingen , Germany.
Expert Rev Mol Diagn. 2017 Aug;17(8):739-750. doi: 10.1080/14737159.2017.1335598. Epub 2017 Jun 26.
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.
癫痫是一种常见的神经系统疾病，其特征为反复出现的无诱因癫痫发作。文献中已描述了500多个与癫痫相关的基因。这些基因中的大多数在神经元兴奋性、皮质发育或突触传递中起重要作用。越来越多的基因变异在个性化医疗方面对诊断、预后或治疗建议具有重要意义。涵盖领域：本综述介绍了不同形式的遗传性癫痫及其潜在的遗传和功能病理生理学，并旨在为推荐的基因检测提供建议。此外，还讨论了应考虑的伦理和法律准则、成本及技术限制。专家评论：基因检测是多种形式癫痫诊断和治疗的重要组成部分。
