Document Detail


EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
MedLine Citation:
PMID:  20153689     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To assess the presence/absence of peculiar EEG features and epilepsy in MECP2-mutated Rett patients with the Zappella-Rett variant (Z-RTT) also known as preserved speech variant.
METHODS: Retrospective analysis of 16 (age 19.4+/-8.4years; range 8-38years) MECP2 mutated Z-RTT cases, including 11 high or intermediate performance (HIP), and five low-performance (LP) patients was performed. Peculiar EEG features were analyzed as a function of the HIP or LP Z-RTT categories: (1) centro-temporal spikes, (2) multifocal EEG activity, (3) EEG encephalopathy (i.e. multifocal EEG activity associated with the presence of background slowing and diffuse slow activity), (4) spindles and K-complex. Furthermore, we assessed the occurrence of epilepsy. Correlations between electroclinical features and category of Z-RTT genotype (missense or truncation mutation) were also tested.
RESULTS: The Z-RTT HIP group showed a very abnormal EEG (presence of centro-temporal spikes: p=0.004808), although the cases studied were not epileptogenic and did not develop encephalopathy. The LP group showed multifocal EEG activity (p=0.000229), EEG encephalopathy (p=0.000229) and epilepsy (p=0.299451). No significant differences between the prevalence of centro-temporal spikes, multifocal EEG activity, EEG encephalopathy, and epilepsy between the patients with the truncation or missense mutation were observed.
CONCLUSIONS: EEG electrophysiological patterns and epileptogenic susceptibility differ in Z-RTT according to the level of performance (i.e. HIP or LP).
SIGNIFICANCE: These results indicate that HIP and LP Z-RTT should be considered as distinct entities, not only on a clinical basis, but also as it concerns EEG features and epileptogenic susceptibility. These results could offer support in the practical management of patients and family counseling.
Authors:
Sabrina Buoni; Raffaella Zannolli; Claudio De Felice; Anna De Nicola; Vanessa Guerri; Beatrice Guerra; Stefania Casali; Barbara Pucci; Letizia Corbini; Francesca Mari; Alessandra Renieri; Michele Zappella; Joseph Hayek
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-12
Journal Detail:
Title:  Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology     Volume:  121     ISSN:  1872-8952     ISO Abbreviation:  Clin Neurophysiol     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-03-30     Completed Date:  2010-04-22     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  100883319     Medline TA:  Clin Neurophysiol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  652-7     Citation Subset:  IM    
Copyright Information:
Copyright 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
Affiliation:
Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Child Neurology and Psychiatry Pediatrics, Azienda Ospedaliera Universitaria Senese, S. Maria alle Scotte Hospital, Siena, Italy. sabrinabuoni@clicsi.net
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Disease Susceptibility
Electroencephalography*
Epilepsy / diagnosis,  etiology*,  physiopathology
Genetic Variation*
Genotype
Humans
Methyl-CpG-Binding Protein 2 / genetics*
Mutation*
Mutation, Missense
Retrospective Studies
Rett Syndrome / complications*,  diagnosis,  genetics*,  physiopathology
Severity of Illness Index
Speech
Young Adult
Grant Support
ID/Acronym/Agency:
GTB07001//Telethon
Chemical
Reg. No./Substance:
0/Methyl-CpG-Binding Protein 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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