title: Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.
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.
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, Texas, U.S.A.
authors.forename: Alica M
authors.initials: AM
authors.lastname: Goldman
authors.affiliation: Cardiac Research Centre, ICCS, St George's University of London, London, United Kingdom.
authors.forename: Elijah R
authors.initials: ER
authors.lastname: Behr
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Semsarian
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Richard D
authors.initials: RD
authors.lastname: Bagnall
authors.affiliation: Institute of Neurology, University College London, London, United Kingdom.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Sisodiya
authors.affiliation: Department of Neurology, Greater Manchester Neurosciences Centre, Salford, United Kingdom.|University of Manchester, Manchester, United Kingdom.
authors.forename: Paul N
authors.initials: PN
authors.lastname: Cooper
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics*; D003645:Death, Sudden / Q000209:etiology* / Q000517:prevention & control; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D000072237:ERG1 Potassium Channel; D004827:Epilepsy / Q000235:genetics*; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / Q000235:genetics; D007223:Infant; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D051662:Kv1.1 Potassium Channel / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C578710:HCN2 protein, human; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; C496946:KCNA1 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015221:Potassium Channels; C568242:SCN1A protein, human; C568320:SCN5A protein, human; D051662:Kv1.1 Potassium Channel
keywords: Molecular autopsy; Prevention; Sudden cardiac death; Sudden infant death syndrome; Sudden unexpected death in epilepsy (SUDEP), genetics