Early progressive encephalopathy in boys and MECP2 mutations

P. Kankirawatana, H. Leonard, C. Ellaway, J. Scurlock, A. Mansour, C.M. Makris, L.S. Dure, M. Friez, J. Lane, C. Kiraly-Borri, V. Fabian, M. Davis, J. Jackson, J. Christodoulou, W.E. Kaufmann, David Ravine, A.K. Percy

    Research output: Contribution to journalArticle

    68 Citations (Scopus)

    Abstract

    MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.
    Original languageEnglish
    Pages (from-to)164-166
    JournalNeurology
    Volume67
    Issue number1
    DOIs
    Publication statusPublished - 2006

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