X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy.
5-HT
GABA
HTR2C
SUDEP
sex differences
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
02
02
2021
revised:
14
04
2021
accepted:
07
05
2021
entrez:
16
8
2021
pubmed:
17
8
2021
medline:
17
8
2021
Statut:
epublish
Résumé
Sudden Unexpected Death in Epilepsy is a leading cause of epilepsy-related mortality, and the analysis of mouse Sudden Unexpected Death in Epilepsy models is steadily revealing a spectrum of inherited risk phenotypes based on distinct genetic mechanisms. Serotonin (5-HT) signalling enhances post-ictal cardiorespiratory drive and, when elevated in the brain, reduces death following evoked audiogenic brainstem seizures in inbred mouse models. However, no gene in this pathway has yet been linked to a spontaneous epilepsy phenotype, the defining criterion of Sudden Unexpected Death in Epilepsy. Most monogenic models of Sudden Unexpected Death in Epilepsy invoke a failure of inhibitory synaptic drive as a critical pathogenic step. Accordingly, the G protein-coupled, membrane serotonin receptor 5-HT
Identifiants
pubmed: 34396109
doi: 10.1093/braincomms/fcab149
pii: fcab149
pmc: PMC8361391
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcab149Subventions
Organisme : NINDS NIH HHS
ID : F31 NS124345
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS029709
Pays : United States
Informations de copyright
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
Références
Eur J Hum Genet. 2017 Apr;25(4):404-409
pubmed: 28074886
Eur J Neurol. 2017 Feb;24(2):309-314
pubmed: 27790834
Neurobiol Dis. 2020 Apr;137:104759
pubmed: 31978607
Am J Hum Genet. 2009 Apr;84(4):524-33
pubmed: 19344873
J Chem Neuroanat. 2005 Mar;29(2):83-91
pubmed: 15652696
Neuron. 1998 Apr;20(4):809-19
pubmed: 9581771
Exp Neurol. 2020 Mar;325:113145
pubmed: 31866464
J Clin Invest. 2013 Apr;123(4):1798-808
pubmed: 23524966
Eur J Pharmacol. 1970 Mar;9(3):379-82
pubmed: 5440309
Lancet Neurol. 2016 Sep;15(10):1075-88
pubmed: 27571159
Forensic Sci Med Pathol. 2016 Jun;12(2):198-9
pubmed: 27094436
Neuropharmacology. 1974 Sep;13(9):877-83
pubmed: 4431567
Ann Neurol. 2021 May;89(5):1023-1035
pubmed: 33604927
Sci Transl Med. 2014 Jan 22;6(220):220ra12
pubmed: 24452264
Epilepsia. 2018 Apr;59(4):e56-e62
pubmed: 29601086
Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8077-E8085
pubmed: 30076230
Neuroscience. 2021 Jan 15;453:206-221
pubmed: 33242541
J Neurosci. 2010 Apr 14;30(15):5167-75
pubmed: 20392939
Neurobiol Dis. 2018 Feb;110:47-58
pubmed: 29141182
Exp Brain Res. 1983;51(1):73-6
pubmed: 6193003
Epilepsy Res. 2010 Feb;88(2-3):183-8
pubmed: 20018491
Brain. 2018 Jun 1;141(6):1719-1733
pubmed: 29608654
Forensic Sci Med Pathol. 2020 Sep;16(3):423-434
pubmed: 32712908
J Neuropathol Exp Neurol. 2019 Sep 1;78(9):765-779
pubmed: 31397480
Respir Physiol Neurobiol. 2013 Nov 1;189(2):324-8
pubmed: 23850567
Epilepsy Behav. 2019 Sep;98(Pt A):73-79
pubmed: 31301453
Epilepsy Res. 2018 Jul;143:79-81
pubmed: 29677576
Epilepsia. 2019 Oct;60(10):e104-e109
pubmed: 31489630
Epilepsia. 2014 Feb;55(2):e6-12
pubmed: 24372310
BMC Bioinformatics. 2014 Jan 29;15:30
pubmed: 24475911
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Epilepsia. 2005;46 Suppl 11:54-61
pubmed: 16393182
Epilepsia. 2006 Jan;47(1):21-6
pubmed: 16417527
Prog Neuropsychopharmacol Biol Psychiatry. 1988;12(1):53-61
pubmed: 2452455
Neurology. 2017 Jul 11;89(2):170-177
pubmed: 28592455
Endocrinology. 1983 Dec;113(6):1935-41
pubmed: 6641620
Epilepsia. 2005;46 Suppl 11:36-9
pubmed: 16393177
Epilepsia. 2011 Jun;52(6):1150-9
pubmed: 21671925
Brain. 2019 Feb 1;142(2):412-425
pubmed: 30649209
Epilepsia. 2012 Jul;53(7):1131-9
pubmed: 22554283
Respir Physiol Neurobiol. 2019 Dec;270:103255
pubmed: 31362064
Epilepsia. 2011 Jan;52 Suppl 1:28-38
pubmed: 21214537
J Neurosci. 2014 Feb 26;34(9):3364-77
pubmed: 24573293
Neuroendocrinology. 1984 Jun;38(6):461-6
pubmed: 6204245
Front Neurol. 2021 Feb 12;12:643916
pubmed: 33643216
PLoS One. 2011;6(6):e20508
pubmed: 21687728
Neurology. 2019 Oct 8;93(15):e1485-e1494
pubmed: 31484709
Neuron. 2008 Nov 26;60(4):582-9
pubmed: 19038216
Brain. 2017 Mar 1;140(3):669-683
pubmed: 28073790
Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14646-51
pubmed: 22908258
Epilepsia. 2018 Jun;59(6):e91-e97
pubmed: 29771456
Epilepsia. 2016 Jul;57(7):e129-34
pubmed: 27197941
J Neural Transm. 1985;63(3-4):297-313
pubmed: 2415675
Br J Pharmacol. 2006 Dec;149(7):861-9
pubmed: 17043669
Brain Res Mol Brain Res. 1991 Sep;11(2):143-9
pubmed: 1661811
Hum Gene Ther. 2020 Mar;31(5-6):339-351
pubmed: 31830809
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Neuropharmacology. 2000;39(1):123-32
pubmed: 10665825
Trends Pharmacol Sci. 1993 Jun;14(6):233-6
pubmed: 8372403
Neurobiol Dis. 2020 Jul;141:104954
pubmed: 32445790
Nat Neurosci. 2007 Dec;10(12):1554-8
pubmed: 17982453
J Clin Invest. 2018 Mar 01;128(3):1141-1153
pubmed: 29329111
Mol Pharmacol. 2000 Jan;57(1):75-81
pubmed: 10617681
Epilepsia. 2014 Oct;55(10):1479-85
pubmed: 24903551
Neuroscience. 2015 Jun 25;297:22-37
pubmed: 25818050
Ann Neurol. 2010 Dec;68(6):787-96
pubmed: 20882604
Neuroscience. 2007 Jun 8;146(4):1677-88
pubmed: 17467185
Epilepsia. 2019 Mar;60(3):485-494
pubmed: 30719703
Nat Genet. 1997 Aug;16(4):387-90
pubmed: 9241279
Epilepsy Behav Case Rep. 2014 Jan 1;2:54-56
pubmed: 24955329
Proc Natl Acad Sci U S A. 1989 Sep;86(17):6793-7
pubmed: 2771958
Proc Natl Acad Sci U S A. 2016 Aug 16;113(33):E4895-903
pubmed: 27482086
Mol Pharmacol. 2002 Sep;62(3):578-89
pubmed: 12181434
Neuropharmacology. 2015 Jun;93:41-51
pubmed: 25656481
Nature. 1995 Apr 6;374(6522):542-6
pubmed: 7700379
Neuropharmacology. 2016 Sep;108:292-304
pubmed: 27085605
Epilepsy Res. 2017 Sep;135:87-94
pubmed: 28646692
J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997
pubmed: 27612489
Brain Res Bull. 1979 Jul-Aug;4(4):571-4
pubmed: 487210
Epilepsia. 2006 Sep;47(9):1423-40
pubmed: 16981857
Neuropharmacology. 1995 Dec;34(12):1635-45
pubmed: 8788961
Hum Mutat. 2016 Mar;37(3):235-41
pubmed: 26555599
Epilepsy Res. 2016 Dec;128:43-47
pubmed: 27810515
Epilepsia. 2016 Jan;57 Suppl 1:17-25
pubmed: 26749013
Epilepsia. 2017 Jan;58(1):17-26
pubmed: 27888514
Ann N Y Acad Sci. 1978 Jun 12;305:437-56
pubmed: 280255
Proc Natl Acad Sci U S A. 2014 Apr 29;111(17):6479-84
pubmed: 24733892
Neuropharmacology. 1973 Jul;12(7):681-92
pubmed: 4730377
J Neural Transm Gen Sect. 1990;79(1-2):93-101
pubmed: 1688708
Brain Res. 2000 Aug 4;873(1):34-45
pubmed: 10915808
Brain Res Bull. 1981 Dec;7(6):639-44
pubmed: 7326580
J Physiol. 2014 Oct 1;592(19):4395-410
pubmed: 25107926
Sci Transl Med. 2015 Apr 8;7(282):282ra46
pubmed: 25855492
Prog Brain Res. 2014;213:223-52
pubmed: 25194492
Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):15026-31
pubmed: 9844009
Life Sci. 1983 Apr 25;32(17):2015-21
pubmed: 6188018
J Neurochem. 2007 Feb;100(4):857-73
pubmed: 17212700