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 journalArticle

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.

Original languageItalian
Pages (from-to)189-190
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number136-137
Publication statusPublished - May 2008

Fingerprint

Mutation
Rett Syndrome
Nervous System Diseases
Carrier Proteins
Parturition
Phenotype
Incidence
Genes
Neurodevelopmental Disorders

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Quadri elettroclinici particolari in due pazienti (un maschio e una femmina) con stessa mutazione del gene MECP2. / Freri, E.; Ragona, F.; Moroni, I.; Binelli, S.; Obino, L.; Russo, S.; Franceschetti, [No Value]; Granata, T.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 136-137, 05.2008, p. 189-190.

Research output: Contribution to journalArticle

@article{fc24edcbcf3b4360ab52cb977868ee34,
title = "Quadri elettroclinici particolari in due pazienti (un maschio e una femmina) con stessa mutazione del gene MECP2",
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.",
keywords = "Epilepsy, Male, MECP2, Preserved speech variant, Rett syndrome",
author = "E. Freri and F. Ragona and I. Moroni and S. Binelli and L. Obino and S. Russo and Franceschetti, {[No Value]} and T. Granata",
year = "2008",
month = "5",
language = "Italian",
pages = "189--190",
journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
publisher = "Lega Italiana contro l'Epilessia",
number = "136-137",

}

TY - JOUR

T1 - Quadri elettroclinici particolari in due pazienti (un maschio e una femmina) con stessa mutazione del gene MECP2

AU - Freri, E.

AU - Ragona, F.

AU - Moroni, I.

AU - Binelli, S.

AU - Obino, L.

AU - Russo, S.

AU - Franceschetti, [No Value]

AU - Granata, T.

PY - 2008/5

Y1 - 2008/5

N2 - 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.

AB - 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.

KW - Epilepsy

KW - Male

KW - MECP2

KW - Preserved speech variant

KW - Rett syndrome

UR - http://www.scopus.com/inward/record.url?scp=51849164099&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=51849164099&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:51849164099

SP - 189

EP - 190

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 136-137

ER -