Epilepsy in Rett syndrome—The experience of a National Rett Center

Summary 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 co...

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Bibliographic Details
Published in:Epilepsia (Copenhagen) 2010-07, Vol.51 (7), p.1252-1258
Main Authors: Nissenkorn, Andreea, Gak, Eva, Vecsler, Manuela, Reznik, Haia, Menascu, Shay, Ben Zeev, Bruria
Format: Article
Language:English
Subjects:
Academic Medical Centers - methods
Adolescent
Adult
Age Factors
Anticonvulsants. Antiepileptics. Antiparkinson agents
Biological and medical sciences
Brain-Derived Neurotrophic Factor - genetics
Child
Child, Preschool
Cross-Sectional Studies
Cycline dependent kinase 5
Electrical status epilepticus during sleep
Electroencephalography - methods
Epilepsy
Epilepsy - etiology
Epilepsy - genetics
Epilepsy - physiopathology
Female
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Israel
Male
Medical sciences
Methyl-CpG-Binding Protein 2 - genetics
Methyl‐CpG‐binding protein 2
Mutation
Nervous system (semeiology, syndromes)
Neurology
Neuropharmacology
Pharmacology. Drug treatments
Polymorphism, Genetic
Retrospective Studies
Rett syndrome
Rett Syndrome - complications
Rett Syndrome - genetics
Rett Syndrome - physiopathology
Young Adult
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Summary:Summary 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 
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1167.2010.02597.x