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Title: Genetic Basis of Sudden Unexpected Death in Epilepsy.
Austin Authors: Bagnall, Richard D;Crompton, Douglas E;Semsarian, Christopher
Affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia
Sydney Medical School, University of Sydney, Sydney, NSW, Australia
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Neurology, Northern Health, Melbourne, Victoria, Australia
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Issue Date: 20-Jul-2017 2017
Publication information: Frontiers in neurology 2017; 8: 348
Abstract: People with epilepsy are at heightened risk of sudden death compared to the general population. The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). Postmortem investigation of people with SUDEP, including histological and toxicological analysis, does not reveal a cause of death, and the mechanisms of SUDEP remain largely unresolved. In this review we present the possible mechanisms underlying SUDEP, including respiratory dysfunction, cardiac arrhythmia and postictal generalized electroencephlogram suppression. Emerging studies in humans and animal models suggest there may be an underlying genetic basis to SUDEP in some cases. We will highlight a mounting body of evidence for the involvement of genetic risk factors in SUDEP, with a particular focus on the role of cardiac arrhythmia genes in SUDEP.
DOI: 10.3389/fneur.2017.00348
ORCID: 0000-0002-0776-1203
PubMed URL: 28775708
ISSN: 1664-2295
Type: Journal Article
Subjects: cardiovascular disease
sudden death
sudden unexpected death in epilepsy
Appears in Collections:Journal articles

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