EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
Clin Neurophysiol
; 121(5): 652-7, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20153689
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Síndrome de Rett
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Eletroencefalografia
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Epilepsia
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Proteína 2 de Ligação a Metil-CpG
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Mutação
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Humans
Idioma:
En
Revista:
Clin Neurophysiol
Ano de publicação:
2010
Tipo de documento:
Article