BS, burst suppression
Burst suppression
Case report
EEG, electroencephalographic
Epileptic encephalopathy
MDS, MECP2 duplication syndrome
MLPA, Multiplex ligation-dependent probe amplification
Neurodevelopmental
Seizures
Journal
Epilepsy & behavior reports
ISSN: 2589-9864
Titre abrégé: Epilepsy Behav Rep
Pays: United States
ID NLM: 101750909
Informations de publication
Date de publication:
2022
2022
Historique:
received:
25
11
2021
revised:
11
04
2022
accepted:
12
04
2022
entrez:
6
5
2022
pubmed:
7
5
2022
medline:
7
5
2022
Statut:
epublish
Résumé
MECP2 duplication syndrome (MDS) is a rare and severe neurodevelopmental disorder frequently associated with epilepsy. Different seizure types and electroencephalographic (EEG) patterns were described in patients with MDS, although it lacks a specific phenotype. We report on an adult patient with long-term epilepsy showing an evolution of the EEG pattern that progressively changed into burst suppression (BS) during sleep. As BS has not been previously reported in MDS, this report expands the neurophysiological phenotype of MDS and further suggest the possible occurrence of a longitudinal spectrum of seizure types and EEG patterns in MDS.
Identifiants
pubmed: 35520952
doi: 10.1016/j.ebr.2022.100541
pii: S2589-9864(22)00018-1
pmc: PMC9062211
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100541Informations de copyright
© 2022 The Authors.
Références
Eur J Paediatr Neurol. 2014 Jul;18(4):475-81
pubmed: 24703762
J Clin Neurophysiol. 2002 Dec;19(6):504-13
pubmed: 12488781
Neurology. 2019 Jan 8;92(2):e108-e114
pubmed: 30552298
Epileptic Disord. 2012 Dec;14(4):414-7
pubmed: 23248047
J Clin Neurophysiol. 2003 Nov-Dec;20(6):398-407
pubmed: 14734930
Epilepsy Behav. 2015 Aug;49:234-7
pubmed: 26195335
Am J Med Genet A. 2010 May;152A(5):1079-88
pubmed: 20425814
Epilepsia. 2012 Jul;53(7):1146-55
pubmed: 22578097
J Child Neurol. 2021 Oct;36(12):1086-1094
pubmed: 34486423
J Med Genet. 2005 Feb;42(2):e12
pubmed: 15689435
Seizure. 2014 May;23(5):405-7
pubmed: 24675111
Am J Med Genet A. 2021 Feb;185(2):362-369
pubmed: 33170557