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DOI: 10.1055/s-0044-1787801
Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings
Síndrome de Rett devido a mutação no gene MECP2 e achados eletroencefalográficos
A 6-year-old girl with MECP2-positive Rett syndrome presented for investigation of seizures. The electroencephalogram (EEG) showed markedly disorganized cerebral activity, epileptiform paroxysms and a quasiperiodic pattern, followed by attenuation after paroxysmal activity ([Figures 1] and [2]). In MECP2-positive patients, there is a progression of EEG findings in stages. First, seizures are not a prominent feature, and the EEG may be normal. Second, focal spikes may be observed, especially in the centrotemporal regions. Third, there is an accentuation of epileptiform activity, abnormalities during sleep, and the presence of bilaterally synchronous discharges of pseudoperiodic delta activity and generalized rhythmic spike discharges. Fourth, there are theta waves in the central and frontal regions, multifocal epileptiform activity in the waking state, and generalized slow spike and wave activity during sleep.[1] [2]
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What is the main gene involved in typical cases of Rett syndrome?
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a) CDKL5
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b) FOXG1
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c) MECP2
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d) SCNA1
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answer: c
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In a patient with Rett syndrome due to a mutation in the MECP2 gene, in how many stages does the progression of electroencephalographic findings occur?
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a) 3
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b) 4
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c) 5
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d) 6
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answer: b
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A patient with Rett syndrome due to a mutation in the MECP2 gene who presents a pattern of pseudoperiodic discharges on the electroencephalogram can be classified into which stage?
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a) 3
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b) 4
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c) 5
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d) 6
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answer: a
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Quiz
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Conflict of Interest
The authors have no conflict of interest to declare.
Editor-in-Chief
Hélio A. G. Teive
Associate Editor
Luciano de Paola
Authors' Contributions
MRC: conceptualization and design of the work, data acquisition, analysis, and interpretation, and writing of the manuscript; TTC: data acquisition and writing of the manuscript; PSO, PVFC: analysis and interpretation of data, review of the manuscript; PELC: analysis and interpretation of data, and writing and review of the manuscript. All authors have approved the final version of the manuscript and agreed to be responsible for all aspects of the work.
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References
- 1 Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G. Epilepsy and genetic in Rett syndrome: A review. Brain Behav 2019; 9 (05) e01250
- 2 Spagnoli C, Fusco C, Pisani F. Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review. Genes (Basel) 2021; 12 (08) 1157
Address for correspondence
Publication History
Received: 03 February 2024
Accepted: 06 April 2024
Article published online:
29 July 2024
© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
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Marta Rodrigues de Carvalho, Thiago Toscano Cavalcante, Pedro Sudbrack Oliveira, Pedro Vicente Ferreira Naves, Paulo Emidio Lobão Cunha. Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Arq Neuropsiquiatr 2024; 82: s00441787801.
DOI: 10.1055/s-0044-1787801
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References
- 1 Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G. Epilepsy and genetic in Rett syndrome: A review. Brain Behav 2019; 9 (05) e01250
- 2 Spagnoli C, Fusco C, Pisani F. Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review. Genes (Basel) 2021; 12 (08) 1157