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    
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.
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.
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.
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MeSH Terms
Disease Susceptibility
Epilepsy / diagnosis,  etiology*,  physiopathology
Genetic Variation*
Methyl-CpG-Binding Protein 2 / genetics*
Mutation, Missense
Retrospective Studies
Rett Syndrome / complications*,  diagnosis,  genetics*,  physiopathology
Severity of Illness Index
Young Adult
Grant Support
Reg. No./Substance:
0/Methyl-CpG-Binding Protein 2

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