Quadri elettroclinici particolari in due pazienti (un maschio e una femmina) con stessa mutazione del gene MECP2

Translated title of the contribution: Peculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation

E. Freri, F. Ragona, I. Moroni, S. Binelli, L. Obino, S. Russo, [No Value] Franceschetti, T. Granata

Research output: Contribution to journalArticlepeer-review

Abstract

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 contributionPeculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation
Original languageItalian
Pages (from-to)189-190
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number136-137
Publication statusPublished - May 2008

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Peculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation'. Together they form a unique fingerprint.

Cite this