Lin Susan, Schwartz Theodore H, Pitt Geoffrey S
Graduate Program in Neuroscience, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.
Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St, New York, NY 10021, USA.
Cardiovasc Res. 2025 Apr 8;120(18):2385-2394. doi: 10.1093/cvr/cvae170.
Sudden unexpected death in epilepsy (SUDEP) poses a significant risk to life expectancy for individuals with epilepsy. Mechanistic insight, while incomplete, has advanced through clinical observational studies and animal models. Yet we lack preventative therapies, which will depend on understanding SUDEP mechanisms. Recurrent convulsive seizures are the major SUDEP risk factor. Cardiorespiratory dysfunction precedes SUDEP, but whether cardiac arrhythmias are major proximate culprits for SUDEP remains to be determined. Here, we highlight recent data from mouse models and clinical studies that provide increasing support for respiratory depression and decreasing evidence for tachyarrhythmia-induced SUDEP. Further, we review data from genetic and chemoconvulsant mouse models that have enabled a deeper understanding for how seizures initiated in the central nervous system propagate to the autonomic nervous system and drive seizure-induced respiratory depression and subsequent SUDEP, rather than supporting a proximate cardiac arrhythmia cause. Ongoing research will continue to identify predictive SUDEP biomarkers, improve animal models, and translate basic research into precision medicine approaches. Identifying and understanding the brainstem circuits vulnerable in seizure-induced apnoea will enable therapeutic interventions to enhance the quality of life and life expectancy for individuals with epilepsy.
癫痫性猝死(SUDEP)对癫痫患者的预期寿命构成了重大风险。尽管对其发病机制的认识尚不完整,但通过临床观察研究和动物模型已有了进展。然而,我们缺乏预防性治疗方法,而这将依赖于对SUDEP机制的理解。反复惊厥性癫痫发作是SUDEP的主要危险因素。心肺功能障碍先于SUDEP出现,但心律失常是否为SUDEP的主要直接病因仍有待确定。在此,我们强调来自小鼠模型和临床研究的最新数据,这些数据越来越支持呼吸抑制,而支持快速性心律失常导致SUDEP的证据则在减少。此外,我们回顾了来自基因和化学惊厥小鼠模型的数据,这些数据使我们能够更深入地理解中枢神经系统引发的癫痫发作如何传播至自主神经系统,并导致癫痫发作诱导的呼吸抑制及随后的SUDEP,而非支持直接的心律失常病因。正在进行的研究将继续确定预测SUDEP的生物标志物,改进动物模型,并将基础研究转化为精准医学方法。识别并理解癫痫发作诱导的呼吸暂停中易受损的脑干回路,将使治疗干预能够提高癫痫患者的生活质量和预期寿命。