| Epilepsy in Rett syndrome---the experience of a National Rett Center. | |
| | |
MedLine Citation:
|
PMID: 20491871 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
PURPOSE: Rett syndrome (RTT), an X-linked, dominant neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, presents with acquired microcephaly, autistic regression, hand usage loss, and stereotypies. Epilepsy is frequent and has been reported to correlate with mutation type, general disease severity, and BDNF polymorphism. Our purpose was a comprehensive description of epilepsy features and course in RTT. METHODS: Retrospective review of charts and electroencephalography (EEG) studies in 97 patients with RTT. RESULTS: Seventy-two percent of patients had epilepsy, appearing at a median age of 3 years. According to age of onset, we divided patients into three groups: 6 with early epileptic variant (0-1 year), 42 with early epilepsy (1-5 years), and 20 with late epilepsy (after 5 years). Early epileptic variant had severe seizure types in the first year of life, followed by a typical RTT picture; all were MECP2 negative. Early epilepsy and late epilepsy groups were similar with respect to Rett-related symptoms, but seizures were better controlled in the second group (p < 0.05). Epileptiform activity appeared earlier and was more confluent in the early epilepsy group, including nine patients with electrical status epilepticus during sleep (ESES) versus one in the late epilepsy group (p < 0.05). No correlation was found between epilepsy onset or severity and genotype. BDNF val/met polymorphism correlated with earlier onset of seizures (p < 0.05). DISCUSSION: Epilepsy appears earlier than described previously, frequently during the regression stage. Early age of onset predicts a more severe course of seizures. ESES is common among those with early onset epilepsy. BDNF polymorphism was the only genetic correlate with seizure onset, whereas MECP2 mutation type and location did not influence epilepsy. |
| | |
Authors:
|
Andreea Nissenkorn; Eva Gak; Manuela Vecsler; Haia Reznik; Shay Menascu; Bruria Ben Zeev |
Publication Detail:
|
Type: Comparative Study; Journal Article Date: 2010-05-13 |
Journal Detail:
|
Title: Epilepsia Volume: 51 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2010 Jul |
Date Detail:
|
Created Date: 2010-07-19 Completed Date: 2010-08-04 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
|
Languages: eng Pagination: 1252-8 Citation Subset: IM |
Affiliation:
|
Pediatric Neurology Unit, Safra Children Hospital, Tel Ha Shomer, Israel. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Academic Medical Centers
/
methods Adolescent Adult Age Factors Brain-Derived Neurotrophic Factor / genetics Child Child, Preschool Cross-Sectional Studies Electroencephalography / methods Epilepsy / etiology*, genetics*, physiopathology Female Humans Infant Israel Male Methyl-CpG-Binding Protein 2 / genetics Mutation Polymorphism, Genetic Retrospective Studies Rett Syndrome / complications*, genetics*, physiopathology Young Adult |
| Chemical | |
Reg. No./Substance:
|
0/Brain-Derived Neurotrophic Factor; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Significance of lateralization of upper limb automatisms in temporal lobe epilepsy: a quantitative m...
Next Document: Serotonin reuptake inhibitors are associated with reduced severity of ictal hypoxemia in medically ...