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聚焦德雷维特综合征癫痫猝死的机制

Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.

作者信息

Shao WeiHui, Liu Lu, Gu JiaXuan, Yang Yue, Wu YaXuan, Zhang ZhuoYue, Xu Qing, Wang YuLing, Shen Yue, Gu LeYuan, Cheng Yuan, Zhang HongHai

机构信息

Department of Anesthesiology, the Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310006, China.

Department of Anesthesiology, Zhejiang University School of Medicine, Hangzhou, 310006, China.

出版信息

Transl Psychiatry. 2025 Mar 17;15(1):84. doi: 10.1038/s41398-025-03304-8.

Abstract

Dravet syndrome (DS) is a severe and catastrophic epilepsy with childhood onset. The incidence and prevalence of sudden unexpected death in epilepsy (SUDEP) are significantly higher in DS patients than in general epileptic populations. Although extensive research conducted, the underlying mechanisms of SUDEP occurring in DS patients remain unclear. This review focuses on the link between DS and SUDEP and analyzes the potential pathogenesis. We summarize the genetic basis of DS and SUDEP and elucidate the pathophysiological mechanisms of SUDEP in DS. Furthermore, given the drug-resistant nature of this disorder, the pharmacological approach has limited efficacy and often causes side effects, therefore, the non-pharmacological approaches and precise treatment can reduce the risk of SUDEP in this condition, open a new window to cure this disease, and provide a widened landscape of treatment options for patients.

摘要

德雷维特综合征(DS)是一种起病于儿童期的严重灾难性癫痫。癫痫性猝死(SUDEP)在DS患者中的发病率和患病率显著高于一般癫痫人群。尽管已进行了广泛研究,但DS患者发生SUDEP的潜在机制仍不清楚。本综述聚焦于DS与SUDEP之间的联系,并分析潜在的发病机制。我们总结了DS和SUDEP的遗传基础,并阐明了DS中SUDEP的病理生理机制。此外,鉴于该疾病的耐药性,药物治疗方法疗效有限且常引起副作用,因此,非药物治疗方法和精准治疗可降低这种情况下SUDEP的风险,为治愈该疾病打开新窗口,并为患者提供更广泛的治疗选择前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f22e/11914262/743e19a6e3b5/41398_2025_3304_Fig1_HTML.jpg

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