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

Goldman, AM; Behr, ER; Semsarian, C; Bagnall, RD; Sisodiya, S; Cooper, PN (2016) Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia, 57 (Suppl 1). pp. 17-25. ISSN 1528-1167 https://doi.org/10.1111/epi.13232
SGUL Authors: Behr, Elijah Raphael

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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.

Item Type: Article
Additional Information: This is the peer reviewed version of the following article: Goldman, A. M., Behr, E. R., Semsarian, C. , Bagnall, R. D., Sisodiya, S. and Cooper, P. N. (2016), Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia, 57: 17-25., which has been published in final form at https://doi.org/10.1111/epi.13232. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
Keywords: Molecular autopsy, Prevention, Sudden cardiac death, Sudden infant death syndrome, Sudden unexpected death in epilepsy (SUDEP), genetics, Arrhythmias, Cardiac, Death, Sudden, Death, Sudden, Cardiac, ERG1 Potassium Channel, Epilepsy, Ether-A-Go-Go Potassium Channels, Genetic Predisposition to Disease, Humans, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Infant, KCNQ1 Potassium Channel, Kv1.1 Potassium Channel, NAV1.1 Voltage-Gated Sodium Channel, NAV1.5 Voltage-Gated Sodium Channel, Potassium Channels, Sudden Infant Death, Humans, Epilepsy, Death, Sudden, Cardiac, Death, Sudden, Sudden Infant Death, Genetic Predisposition to Disease, Potassium Channels, Infant, Ether-A-Go-Go Potassium Channels, KCNQ1 Potassium Channel, Kv1.1 Potassium Channel, Arrhythmias, Cardiac, NAV1.5 Voltage-Gated Sodium Channel, NAV1.1 Voltage-Gated Sodium Channel, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Sudden unexpected death in epilepsy (SUDEP), genetics, Sudden cardiac death, Sudden infant death syndrome, Molecular autopsy, Prevention, Neurology & Neurosurgery, 1103 Clinical Sciences, 1109 Neurosciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Epilepsia
ISSN: 1528-1167
Language: eng
Dates:
DateEvent
8 January 2016Published
5 October 2015Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
R01 NS067013NINDS NIH HHSUNSPECIFIED
U01 NS090362NINDS NIH HHSUNSPECIFIED
U01 NS090406NINDS NIH HHSUNSPECIFIED
PubMed ID: 26749013
Web of Science ID: WOS:000368132400003
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/107603
Publisher's version: https://doi.org/10.1111/epi.13232

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