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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.

DOI:10.1111/epi.13232
PMID:26749013
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5034873/
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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本文引用的文献

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Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.常见癫痫的遗传决定因素:全基因组关联研究的荟萃分析。
Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.QT间期的遗传关联研究凸显了钙信号通路在心肌复极化中的作用。
Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.
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Our epilepsy story: SUDEP Aware.我们的癫痫故事:了解癫痫性猝死。
Epilepsia. 2015 Jan;56(1):9-11. doi: 10.1111/epi.12599. Epub 2014 Apr 22.
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Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention.癫痫性猝死的机制:预防途径
Nat Rev Neurol. 2014 May;10(5):271-82. doi: 10.1038/nrneurol.2014.64. Epub 2014 Apr 22.
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High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.高分辨率分子基因组尸检揭示复杂的癫痫风险特征中的突发性意外死亡。
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Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia.柯萨奇病毒和腺病毒受体是心肌缺血情况下心脏传导和心律失常易感性的调节因子。
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