Epilepsy genetics: clinical impacts and biological insights,The Lancet Neurology

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Epilepsy genetics: clinical impacts and biological insights
The Lancet Neurology ( IF 46.5 ) Pub Date : 2020-01-01 , DOI: 10.1016/s1474-4422(19)30269-8
Colin A Ellis ₁ , Slavé Petrovski ₂ , Samuel F Berkovic ₃

Affiliation

Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of genetic mechanisms and neurobiological pathways that contribute to these disorders. The new genomic era can present a challenge to clinicians, who now find themselves asked to interpret and apply genetic data to their daily management of patients with epilepsy. Navigation of this new era will require genetic literacy and familiarity with research advances in epilepsy genetics. Genetic epilepsy diagnoses now directly affect clinical care, and their importance will only increase as new targeted treatments continue to emerge. At the same time, new genetic insights challenge us to move from a deterministic view of genetic changes to a more nuanced appreciation of genetic risk within complex neurobiological systems that give rise to epilepsy.

中文翻译：

癫痫遗传学：临床影响和生物学见解

基因组学现在在神经病学诊所中扮演着越来越重要的角色。关于癫痫，以技术、分析和合作为中心的创新已经在基因发现方面取得了显着进展，并揭示了导致这些疾病的多种遗传机制和神经生物学途径。新的基因组时代可能给临床医生带来挑战，他们现在发现自己需要解释基因数据并将其应用于癫痫患者的日常管理。这个新时代的导航将需要遗传知识和对癫痫遗传学研究进展的熟悉。遗传性癫痫诊断现在直接影响临床护理，随着新的靶向治疗不断出现，它们的重要性只会增加。同时，

更新日期：2020-01-01

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