PDF(Pubmed)
Abstract：
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.
摘要：
进行性肌阵挛性癫痫（PME）是一组多样化的疾病，其特征是肌阵挛性和癫痫发作在可变的时间范围内逐渐恶化。虽然每种疾病都是罕见的，它们共同构成了三级护理中心看到的复杂癫痫和肌阵挛症病例的重要部分。在过去的十年中，我们对病理生理学的理解取得了实质性进展，诊断,预后,and,在选择障碍中，这些疾病的治疗。在这次范围审查中，我们研究了过去十年来解决诊断问题的英语出版物，表型，以及所有PME的治疗进展。然后，我们强调已经吸取的主要教训，并指出未来调查似乎有希望的途径。
