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 journalArticlepeer-review

69 Scopus citations


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 2006
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


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