Article
Epilepsy in Rett syndrome---the experience of a National Rett Center.
Epilepsia - 1 Jul 2010
Nissenkorn Andreea, Gak Eva, Vecsler Manuela, Reznik Haia, Menascu Shay, Ben Zeev Bruria
Abstract excerpt
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...
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