Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
cardiac arrhythmia
common variants
epilepsy
genetics
ion channels
sudden unexpected death in epilepsy
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2020
2020
Historique:
received:
28
05
2020
accepted:
17
07
2020
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
6
10
2020
Statut:
epublish
Résumé
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDEP. Furthermore, variants in genes associated with Long QT syndrome (LQTS) have been identified in patients with SUDEP. LQTS is a cardiac arrhythmia condition that causes sudden cardiac death with strong similarities to SUDEP. Here, we discuss the possibility of an additive risk of death due to the functional consequences of a pathogenic variant in an LQTS gene interacting with seizure-mediated changes in cardiac function. Extending this general concept, we propose a hypothesis that common variants in LQTS genes, which cause a subtle impact on channel function and would not normally be considered risk factors for cardiac disease, may increase the risk of sudden death when combined with epilepsy. A greater understanding of the interaction between epilepsy, cardiac arrhythmia, and SUDEP will inform our understanding of SUDEP risk and subsequent potential prophylactic treatment.
Identifiants
pubmed: 33013630
doi: 10.3389/fneur.2020.00925
pmc: PMC7505992
doi:
Types de publication
Journal Article
Langues
eng
Pagination
925Informations de copyright
Copyright © 2020 Bleakley, Soh, Bagnall, Sadleir, Gooley, Semsarian, Scheffer, Berkovic and Reid.
Références
Neurology. 2019 Jul 16;93(3):e227-e236
pubmed: 31217259
Dev Med Child Neurol. 2011 Apr;53 Suppl 2:7-10
pubmed: 21504425
Brain Pathol. 2011 Nov;21(6):692-8
pubmed: 21615589
Epilepsia. 2011 Jun;52(6):1150-9
pubmed: 21671925
Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):868-77
pubmed: 22895603
Emerg Med J. 2005 Aug;22(8):600-1
pubmed: 16046776
J Am Heart Assoc. 2020 Jan 7;9(1):e012264
pubmed: 31865891
Ann Neurol. 2016 Apr;79(4):522-34
pubmed: 26704558
Heart Rhythm. 2017 Jan;14(1):e41-e44
pubmed: 27659101
Lancet Neurol. 2016 Sep;15(10):1075-88
pubmed: 27571159
Ann Neurol. 2010 Dec;68(6):773-5
pubmed: 21194146
Ann Emerg Med. 2009 Jul;54(1):26-32
pubmed: 19282063
Epilepsy Behav. 2007 Feb;10(1):138-41
pubmed: 17196884
Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8077-E8085
pubmed: 30076230
Lancet Neurol. 2006 Jun;5(6):481-7
pubmed: 16713919
Sci Rep. 2018 May 31;8(1):8443
pubmed: 29855564
Lancet. 1999 Mar 13;353(9156):888-93
pubmed: 10093982
Int J Legal Med. 2015 May;129(3):495-504
pubmed: 25119684
Front Physiol. 2016 Dec 27;7:650
pubmed: 28082916
Seizure. 2009 Mar;18(2):158-60
pubmed: 18752973
Epilepsy Res. 2016 Nov;127:19-29
pubmed: 27544485
J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):349-51
pubmed: 14966142
Lancet Neurol. 2013 Oct;12(10):966-77
pubmed: 24012372
Lancet Neurol. 2008 Nov;7(11):1021-31
pubmed: 18805738
NPJ Genom Med. 2018 Mar 27;3:9
pubmed: 29619247
Front Neurol. 2018 Jun 27;9:484
pubmed: 29997564
J Arrhythm. 2016 Oct;32(5):373-380
pubmed: 27761161
Front Neurol. 2017 Sep 21;8:473
pubmed: 28983274
Epilepsia. 2012 Feb;53(2):227-33
pubmed: 22191982
Front Cell Neurosci. 2016 Mar 30;10:81
pubmed: 27064559
Neurology. 2017 Aug 29;89(9):878-879
pubmed: 28768845
J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):69-74
pubmed: 26038597
Genomics. 2004 Sep;84(3):555-64
pubmed: 15498462
Epilepsia. 2013 Aug;54(8):e112-6
pubmed: 23899126
Sci Transl Med. 2009 Oct 14;1(2):2ra6
pubmed: 20368164
J Cardiovasc Electrophysiol. 1993 Apr;4(2):206-10
pubmed: 8269292
Brain Pathol. 2011 Mar;21(2):201-8
pubmed: 20875080
Seizure. 2001 Jun;10(4):306-14; quiz 315-6
pubmed: 11466029
Epilepsy Res. 2016 Dec;128:43-47
pubmed: 27810515
J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):402-13
pubmed: 26979537
Neurology. 2017 Apr 25;88(17):1674-1680
pubmed: 28438841
Epilepsy Res. 2005 Jun;65(1-2):101-15
pubmed: 16005188
Epilepsia. 2017 Jan;58(1):17-26
pubmed: 27888514
Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33
pubmed: 24932360
Lancet. 2004 Dec 18-31;364(9452):2212-9
pubmed: 15610808
Front Neurol. 2017 Jul 20;8:348
pubmed: 28775708
J Cardiovasc Electrophysiol. 2001 Nov;12(11):1223-9
pubmed: 11761407
Heart Rhythm. 2007 Feb;4(2):170-4
pubmed: 17275752
N Engl J Med. 2016 Jun 23;374(25):2441-52
pubmed: 27332903