MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution
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 lon...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | Epilepsy & Behavior Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986422000181 |
| _version_ | 1811221173392900096 |
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| author | Ilaria Cani Lorenzo Muccioli Francesco Mignani Laura Licchetta Paolo Tinuper Federica Provini Francesca Bisulli |
| author_facet | Ilaria Cani Lorenzo Muccioli Francesco Mignani Laura Licchetta Paolo Tinuper Federica Provini Francesca Bisulli |
| author_sort | Ilaria Cani |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T07:53:30Z |
| format | Article |
| id | doaj.art-a0d154464f3947ae8fe8287f1ddfb4d9 |
| institution | Directory Open Access Journal |
| issn | 2589-9864 |
| language | English |
| last_indexed | 2024-04-12T07:53:30Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj.art-a0d154464f3947ae8fe8287f1ddfb4d92022-12-22T03:41:32ZengElsevierEpilepsy & Behavior Reports2589-98642022-01-0119100541MECP2 duplication syndrome: The electroclinical features of a case with long-term evolutionIlaria Cani0Lorenzo Muccioli1Francesco Mignani2Laura Licchetta3Paolo Tinuper4Federica Provini5Francesca Bisulli6Department of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, ItalyDepartment of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy1IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy1Department of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy1Department of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy1Department of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy1; Corresponding author at: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bellaria hospital, Via Altura 3, Bologna 40139, Italy.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.http://www.sciencedirect.com/science/article/pii/S2589986422000181Burst suppressionSeizuresNeurodevelopmentalEpileptic encephalopathyCase report |
| spellingShingle | Ilaria Cani Lorenzo Muccioli Francesco Mignani Laura Licchetta Paolo Tinuper Federica Provini Francesca Bisulli MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution Epilepsy & Behavior Reports Burst suppression Seizures Neurodevelopmental Epileptic encephalopathy Case report |
| title | MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution |
| title_full | MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution |
| title_fullStr | MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution |
| title_full_unstemmed | MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution |
| title_short | MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution |
| title_sort | mecp2 duplication syndrome the electroclinical features of a case with long term evolution |
| topic | Burst suppression Seizures Neurodevelopmental Epileptic encephalopathy Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2589986422000181 |
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