Mechanisms of sudden unexplained death in epilepsy.
Mechanisms of sudden unexplained death in epilepsy.
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DOI：
10.1097/wco.0000000000000184
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发表时间：
2015-04
影响因子：
4.8
通讯作者：
Goldman AM
中科院分区：
文献类型：
--
作者：
Goldman AM
人类和实验研究已确定心脏自主神经和呼吸功能障碍是人类和动物癫痫猝死（SUDEP）模型事件中的常见症状。本综述旨在概述目前公认的 SUDEP 病理生理学风险因素和工作假设背后的科学证据。对 SUDEP 公共卫生负担的流行病学分析表明，在潜在生命损失年数中，其发病率仅次于中风。临床和实验研究揭示了 SUDEP 发作间期和即将发生的动态心肺功能障碍，模型系统促进了对 SUDEP 机制的理解和试点治疗干预的应用。人类 SUDEP 的初步分子分析揭示了候选基因网络中复杂的基因组结构。广泛的临床和实验工作为 SUDEP 机制的概念思考奠定了基础。全局分子谱分析的应用对于揭示每个患者生理特征背后的个体独特的基因组复杂性和相互作用将具有无价的价值。与此同时，复杂的模型系统对于人类遗传学、生理学、药理学干预措施的迭代转化以及测试预防性干预措施至关重要。
Human and experimental research has identified cardioautonomic and respiratory dysfunction as a frequent accompaniment in human and animal model events of sudden unexpected death in epilepsy (SUDEP). This review aims to provide an overview of the scientific evidence behind the currently accepted risk factors and working hypotheses regarding SUDEP pathophysiology. Epidemiological analysis of public health burden of SUDEP has shown that it rates second only to stroke in the years of potential life lost. Clinical and experimental studies uncovered the dynamic cardiorespiratory dysfunction interictally and imminently to SUDEP, and model systems have facilitated discoveries in SUDEP mechanistic understanding and application of pilot therapeutic interventions. Pilot molecular profiling of human SUDEP has uncovered complex genomic structure in the candidate gene network. Extensive clinical and experimental work has established a rationale for the conceptual thinking about SUDEP mechanisms. The application of the global molecular profiling will be invaluable in unraveling the individually unique genomic complexities and interactions that underlie the physiological signature of each patient. At the same time, sophisticated model systems will be critical in the iterative translation of human genetics, physiology, pharmacological interventions, and in testing preventive interventions.