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Epilepsy genetics and the precision medicine matrix.
The Lancet Neurology ( IF 48.0 ) Pub Date : 2019-09-04 , DOI: 10.1016/s1474-4422(19)30331-x
Sanjay M Sisodiya 1
Affiliation  

The Personal View by Colin A Ellis and colleagues in The Lancet Neurology rightly celebrates achievements in epilepsy genetics; fundamental discoveries have deepened understanding of disease biology and firmly placed the use of genomics in the clinic. For clinicians, the question is whether these developments will benefit people with epilepsy. Progress in identifying causes of the rare, severe, early-onset epilepsies, which tend to be resistant to available treatments, has fired enthusiasm for genetics-driven precision medicine, with a few impressive achievements. However, the overall picture regarding the role of precision medicine in the epilepsies is complicated.

中文翻译:

癫痫遗传学和精密医学矩阵。

柳叶刀》《神经病学》杂志的科林·艾利斯(Colin A Ellis)及其同事所发表的个人观点正确地庆祝了癫痫遗传学的成就。基本发现已经加深了对疾病生物学的理解,并将基因组学的应用牢牢地放在了临床上。对于临床医生来说,问题是这些进展是否会使癫痫患者受益。在确定罕见,严重,早发性癫痫病因的进展方面,这种病往往对现有的治疗方法有抵抗力,这激发了人们对遗传学驱动的精密医学的热情,并取得了一些令人瞩目的成就。但是,关于精确医学在癫痫病中的作用的总体情况很复杂。
更新日期:2019-12-13
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