Epilessia nella sindrome di Rett: Caratteristiche in relazione con la mutazione del gene MECP2

Translated title of the contribution: Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation

M. Santucci, I. Cecconi, G. Ambrosetto, S. Sangiorgi, A. Posar, S. Belmonte, C. Bertin, B. Pirri, P. Giovanardi-Rossi

Research output: Contribution to journalArticle

Abstract

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 contributionRett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation
Original languageItalian
Pages (from-to)55-58
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number118
Publication statusPublished - Oct 2002

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation'. Together they form a unique fingerprint.

  • Cite this

    Santucci, M., Cecconi, I., Ambrosetto, G., Sangiorgi, S., Posar, A., Belmonte, S., Bertin, C., Pirri, B., & Giovanardi-Rossi, P. (2002). Epilessia nella sindrome di Rett: Caratteristiche in relazione con la mutazione del gene MECP2. Bollettino - Lega Italiana contro l'Epilessia, (118), 55-58.