Early progressive encephalopathy in boys and MECP2 mutations

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

    Research output: Contribution to journalArticle


    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 (US)
    Pages (from-to)164-166
    Number of pages3
    Issue number1
    StatePublished - Jul 1 2006

    ASJC Scopus subject areas

    • Clinical Neurology

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  • Cite this

    Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C. M., Dure IV, L. S., Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W. E., Ravine, D., & Percy, A. K. (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166. https://doi.org/10.1212/01.wnl.0000223318.28938.45