Rett syndrome (RS) is an X-linked neurodevelopmental disorder, occurring in females. Recently RS has been associated with mutation of the gene MECP2. Epilepsy (E) is frequent in RS. We present nine RS patients, in whom MECP2 mutations were identified. Seven suffered from epileptic seizures. We analyze the main features of E for a correlation with the MECP2 mutation types (missense or truncating).
|Translated title of the contribution||Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Oct 2002|
ASJC Scopus subject areas
- Clinical Neurology