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Epilepsy in Rett syndrome: clinical and genetic features.
- Source :
-
Epilepsy & behavior : E&B [Epilepsy Behav] 2010 Nov; Vol. 19 (3), pp. 296-300. Date of Electronic Publication: 2010 Aug 21. - Publication Year :
- 2010
-
Abstract
- Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%. Drug-resistant epilepsy occurred in 30% of all our patients with Rett syndrome and in 38% of those with epilepsy. Our findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology. The Hanefeld and preserved speech variants represent the extremes of the range of severity of epilepsy: the preserved speech variant is characterized by the mildest epileptic phenotype as epilepsy is much less frequent, starts later, and is less drug resistant than what is observed in the other phenotypes. Another important finding is that seizure onset before 1 year of age and daily frequency are risk factors for drug resistance. Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome.<br /> (Copyright © 2010 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Age of Onset
Chi-Square Distribution
Child
Child, Preschool
Electroencephalography
Epilepsy etiology
Female
Genotype
Humans
Male
Mutation genetics
Phenotype
Retrospective Studies
Rett Syndrome complications
Young Adult
Epilepsy genetics
Methyl-CpG-Binding Protein 2 genetics
Protein Serine-Threonine Kinases genetics
Rett Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1525-5069
- Volume :
- 19
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Epilepsy & behavior : E&B
- Publication Type :
- Academic Journal
- Accession number :
- 20728410
- Full Text :
- https://doi.org/10.1016/j.yebeh.2010.06.051