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癫痫遗传学中的意外猝死:分子诊断与预防

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

作者信息

Goldman Alica M, Behr Elijah R, Semsarian Christopher, Bagnall Richard D, Sisodiya Sanjay, Cooper Paul N

机构信息

Department of Neurology, Baylor College of Medicine, Houston, Texas, U.S.A.

Cardiac Research Centre, ICCS, St George's University of London, London, United Kingdom.

出版信息

Epilepsia. 2016 Jan;57 Suppl 1(Suppl 1):17-25. doi: 10.1111/epi.13232.

Abstract

Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due to epilepsy. Genetic analyses in humans and in model systems have facilitated our current molecular understanding of SUDEP. Many discoveries have been informed by progress in the field of sudden cardiac death and sudden infant death syndrome. It is becoming apparent that SUDEP genomic complexity parallels that of sudden cardiac death, and that there is a pauci1ty of analytically useful postmortem material. Because many challenges remain, future progress in SUDEP research, molecular diagnostics, and prevention rests in international, collaborative, and transdisciplinary dialogue in human and experimental translational research of sudden death.

摘要

流行病学研究清楚地证明了癫痫性猝死(SUDEP)对公共卫生的负担。临床和实验研究揭示了癫痫患者在发作间期以及癫痫猝死时存在动态心肺功能障碍。对人类和模型系统的基因分析促进了我们目前对SUDEP的分子理解。许多发现得益于心源性猝死和婴儿猝死综合征领域的进展。越来越明显的是,SUDEP的基因组复杂性与心源性猝死相似,而且用于分析的尸检材料匮乏。由于仍然存在许多挑战,SUDEP研究、分子诊断和预防方面的未来进展取决于在人类和实验性猝死转化研究中的国际、合作和跨学科对话。

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