Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: pathophysiology and diagnostic implications.
EEG
TMS
cortical tremor
myoclonus
somatosensory evoked potential
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2022
2022
Historique:
received:
01
09
2021
revised:
26
11
2021
accepted:
11
02
2022
entrez:
2
3
2022
pubmed:
3
3
2022
medline:
3
3
2022
Statut:
epublish
Résumé
Familial adult myoclonic epilepsy type 2 is a hereditary condition characterized by cortical tremor, myoclonus and epilepsy. It belongs to the spectrum of cortical myoclonus and the sensorimotor cortex hyperexcitability represents an important pathogenic mechanism underlying this condition. Besides pericentral cortical structures, the impairment of subcortical networks seems also to play a pathogenetic role, mainly via the thalamo-cortical pathway. However, the mechanisms underlying cortical-subcortical circuits dysfunction, as well as their impact on clinical manifestations, are still unknown. Therefore, the main aims of our study were to systematically study with an extensive electrophysiological battery, the cortical sensorimotor, as well as thalamo-cortical networks in genetically confirmed familial adult myoclonic epilepsy patients and to establish reliable neurophysiological biomarkers for the diagnosis. In 26 familial myoclonic epilepsy subjects, harbouring the intronic ATTTC repeat expansion in the
Identifiants
pubmed: 35233526
doi: 10.1093/braincomms/fcac037
pii: fcac037
pmc: PMC8882005
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcac037Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.
Références
Mov Disord. 2016 Nov;31(11):1704-1710
pubmed: 27613677
Clin Neurophysiol. 2015 Oct;126(10):1847-68
pubmed: 25534482
J Physiol. 2000 Mar 1;523 Pt 2:503-13
pubmed: 10699092
Adv Neurol. 2002;89:361-76
pubmed: 11968461
Epilepsia. 2009 May;50(5):1284-8
pubmed: 19222544
Front Neurol. 2021 Feb 05;11:605335
pubmed: 33613416
Mov Disord. 2020 Jun;35(6):1012-1020
pubmed: 32129927
Brain. 2019 Nov 1;142(11):3360-3366
pubmed: 31539032
Nat Commun. 2019 Oct 29;10(1):4919
pubmed: 31664039
Electroencephalogr Clin Neurophysiol. 1998 Nov;108(6):536-42
pubmed: 9872424
Clin Neurophysiol. 2021 May;132(5):1049-1056
pubmed: 33743300
Electroencephalogr Clin Neurophysiol. 1997 Jan;104(1):68-73
pubmed: 9076255
Electroencephalogr Clin Neurophysiol. 1991 Feb;78(2):116-23
pubmed: 1704834
Neurophysiol Clin. 2006 Sep-Dec;36(5-6):293-7
pubmed: 17336773
J Neurosci. 2016 Jan 13;36(2):325-35
pubmed: 26758826
Mov Disord. 2021 Oct;36(10):2335-2345
pubmed: 34050549
Clin Neurophysiol. 2021 Oct;132(10):2568-2607
pubmed: 34482205
Adv Neurol. 2005;95:281-8
pubmed: 15508931
Epilepsia. 2011 Jul;52(7):1245-50
pubmed: 21426326
Mov Disord. 1998;13 Suppl 3:24-8
pubmed: 9827590
Clin Neurophysiol. 2020 Aug;131(8):1917-1924
pubmed: 32599275
Radiology. 1983 Sep;148(3):839-43
pubmed: 6878708
Seizure. 2019 Apr;67:73-77
pubmed: 30928698
Neuroimage. 2008 Apr 1;40(2):427-434
pubmed: 18234513
Mov Disord. 2006 Feb;21(2):215-22
pubmed: 16200541
J Clin Neurophysiol. 2006 Jun;23(3):265-72
pubmed: 16751728
Epilepsia. 2004 Jan;45(1):77-80
pubmed: 14692911
Tremor Other Hyperkinet Mov (N Y). 2012;2:
pubmed: 23439993
Neurology. 2001 Nov 27;57(10):1793-9
pubmed: 11723265
Ann Neurol. 2020 May;87(5):763-773
pubmed: 32129908
Clin Neurophysiol. 2015 Jun;126(6):1071-1107
pubmed: 25797650
Brain. 2001 Dec;124(Pt 12):2459-75
pubmed: 11701600
Cerebellum. 2016 Dec;15(6):696-704
pubmed: 26519379
Clin Neurophysiol. 2020 Aug;131(8):2041-2046
pubmed: 32487476
Muscle Nerve. 2005 Feb;31(2):157-74
pubmed: 15547927
Clin Neurophysiol. 2008 Oct;119(10):2291-7
pubmed: 18723394
Clin Neurophysiol. 2011 Oct;122(10):1908-23
pubmed: 21724458
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
Sci Rep. 2021 Apr 14;11(1):8159
pubmed: 33854132
Neurology. 1990 Oct;40(10):1561-5
pubmed: 2215948
Brain. 2020 Oct 1;143(10):e87
pubmed: 33011757
Brain. 2020 Sep 1;143(9):2653-2663
pubmed: 32417917
J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):56-60
pubmed: 16361593
Nat Commun. 2019 Oct 29;10(1):4920
pubmed: 31664034
Front Hum Neurosci. 2019 Apr 08;13:111
pubmed: 31024277
J Neurosurg. 1983 Jun;58(6):885-94
pubmed: 6854381
Clin Neurophysiol. 2021 Jan;132(1):269-306
pubmed: 33243615
Arch Neurol. 1983 May;40(5):290-3
pubmed: 6847423
Mov Disord. 2007 Dec;22(16):2378-85
pubmed: 17894334
Mov Disord. 2021 Oct;36(10):2446-2448
pubmed: 34302697
Eur J Neurosci. 2016 May;43(9):1156-60
pubmed: 26929110
Neurology. 2013 May 7;80(19):1746-53
pubmed: 23576626
Nat Rev Neurol. 2014 Oct;10(10):597-608
pubmed: 25201238
Clin Neurophysiol. 1999 Jan;110(1):185-91
pubmed: 10348338
Epilepsia. 2009 Jun;50(6):1491-7
pubmed: 19054410
Neuroimage. 2017 Sep;158:37-47
pubmed: 28669907
Seizure. 2018 Oct;61:14-22
pubmed: 30053653
Clin Neurophysiol. 2010 Dec;121(12):2097-103
pubmed: 20554474
Epilepsia. 2010 Oct;51(10):2084-8
pubmed: 20384725
Electroencephalogr Clin Neurophysiol. 1996 May;100(3):189-203
pubmed: 8681860
Brain. 1985 Mar;108 ( Pt 1):225-40
pubmed: 3919884
Neurology. 2007 Apr 24;68(17):1382-9
pubmed: 17452583
Arch Neurol. 1997 Feb;54(2):187-96
pubmed: 9041860