Document Detail

Epilepsy in Rett syndrome---the experience of a National Rett Center.
MedLine Citation:
PMID:  20491871     Owner:  NLM     Status:  MEDLINE    
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.
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    
Pediatric Neurology Unit, Safra Children Hospital, Tel Ha Shomer, Israel.
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MeSH Terms
Academic Medical Centers / methods
Age Factors
Brain-Derived Neurotrophic Factor / genetics
Child, Preschool
Cross-Sectional Studies
Electroencephalography / methods
Epilepsy / etiology*,  genetics*,  physiopathology
Methyl-CpG-Binding Protein 2 / genetics
Polymorphism, Genetic
Retrospective Studies
Rett Syndrome / complications*,  genetics*,  physiopathology
Young Adult
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

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