Epilepsy
Epilepsy
复制标题
DOI：
10.1038/nrdp.2018.24
复制
发表时间：
2018-05-03
影响因子：
81.5
通讯作者：
Perucca, Piero
中科院分区：
文献类型：
--
作者：
Devinsky, Orrin;Vezzani, Annamaria;Perucca, Piero
癫痫影响所有年龄段，是最常见和最致残的神经系统疾病之一。对癫痫的准确诊断是至关重要的，因为一些患者会被误诊为癫痫，而另一些患者会得到错误的诊断。事实上，诊断错误是很常见的，许多患者没有得到正确的治疗，这往往会产生严重的后果。虽然许多患者只用一种药物就能控制癫痫发作，但其他人需要多种药物、切除手术、神经调节设备或饮食疗法。此外，三分之一的患者将继续出现不受控制的癫痫发作。癫痫可严重损害生活质量，原因是癫痫发作、并发情绪和精神障碍、认知缺陷和药物的不良反应。此外，由于对自主神经和觉醒功能的直接影响或由于溺水和其他事故等间接影响，癫痫发作可能是致命的。破译癫痫的病理生理学，促进了人们对病理性损伤引发的细胞和分子事件的理解，这些事件将正常电路转化为癫痫电路(癫痫发生)，以及产生癫痫发作的机制(细胞分裂)。与癫痫相关的>；500基因的发现，导致了新的动物模型、更精确的诊断，以及在某些情况下的靶向治疗。
Epilepsy affects all age groups and is one of the most common and most disabling neurological disorders. The accurate diagnosis of seizures is essential as some patients will be misdiagnosed with epilepsy, whereas others will receive an incorrect diagnosis. Indeed, errors in diagnosis are common, and many patients fail to receive the correct treatment, which often has severe consequences. Although many patients have seizure control using a single medication, others require multiple medications, resective surgery, neuromodulation devices or dietary therapies. In addition, one-third of patients will continue to have uncontrolled seizures. Epilepsy can substantially impair quality of life owing to seizures, comorbid mood and psychiatric disorders, cognitive deficits and adverse effects of medications. In addition, seizures can be fatal owing to direct effects on autonomic and arousal functions or owing to indirect effects such as drowning and other accidents. Deciphering the pathophysiology of epilepsy has advanced the understanding of the cellular and molecular events initiated by pathogenetic insults that transform normal circuits into epileptic circuits (epileptogenesis) and the mechanisms that generate seizures (ictogenesis). The discovery of >500 genes associated with epilepsy has led to new animal models, more precise diagnoses and, in some cases, targeted therapies.