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进行性肌阵挛性癫痫:遗传与治疗方面的综述

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.

作者信息

Shahwan Amre, Farrell Michael, Delanty Norman

机构信息

Department of Neurology and Neuroscience, Beaumont Hospital, Dublin, Ireland.

出版信息

Lancet Neurol. 2005 Apr;4(4):239-48. doi: 10.1016/S1474-4422(05)70043-0.

Abstract

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. Recent advances in molecular genetics have helped achieve better understanding of the different disorders that cause PME. We review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options.

摘要

进行性肌阵挛癫痫(PMEs)是一组由罕见疾病引起的症状性全身性癫痫,其中大多数具有遗传成分,病程致残,预后不良。PME的挑战源于诊断困难,尤其是在疾病的早期阶段,以及管理和药物治疗方面的进一步问题。分子遗传学的最新进展有助于更好地理解导致PME的不同疾病。我们重点回顾PMEs的最新遗传学、诊断和治疗选择。

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