Rett syndrome (RS) is an X-linked neurodevelopmental disorder affecting almost exclusively females, caused by mutations in the MECP2 (methyl CpG binding protein) gene. Its incidence is about 1:10000,1:15000 female births. In female the classical form and its variants are described. MECP2 mutations in males are responsible for a wide spectrum of neurological disorders, We describe the clinical phenotype of a boy and a girl with the same MECP2 mutation.
|Translated title of the contribution||Peculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2008|
ASJC Scopus subject areas
- Clinical Neurology