Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

被引：77

作者：

Goldman, Alica M. ^{[1
]}

Behr, Elijah R. ^{[2
]}

Semsarian, Christopher ^{[3
]}

Bagnall, Richard D. ^{[3
]}

Sisodiya, Sanjay ^{[4
]}

Cooper, Paul N. ^{[5
,6
]}

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[2] St Georges Univ London, ICCS, Cardiac Res Ctr, London, England

[3] Univ Sydney, Sydney Med Sch, Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW 2006, Australia

[4] UCL, Inst Neurol, London, England

[5] Greater Manchester Neurosci Ctr, Dept Neurol, Salford, Lancs, England

[6] Univ Manchester, Manchester, Lancs, England

来源：

EPILEPSIA | 2016年 / 57卷

关键词：

Sudden unexpected death in epilepsy (SUDEP); genetics; Sudden cardiac death; Sudden infant death syndrome; Molecular autopsy; Prevention; LONG-QT SYNDROME; DE-NOVO MUTATIONS; ACUTE MYOCARDIAL-INFARCTION; GENOME-WIDE ASSOCIATION; TEMPORAL-LOBE EPILEPSY; HEART-RATE-VARIABILITY; DRAVET SYNDROME; CARDIAC DEATH; UNEXPLAINED DEATH; MICE LACKING;

D O I：

10.1111/epi.13232

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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 paucilty of analytically useful postmortem material. Because many challenges remain, future progress in SUDEP research, molecular diagnostics, and prevention rests in international, collaborative, and trans-disciplinary dialogue in human and experimental translational research of sudden death.

引用

页码：17 / 25

页数：9

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