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

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

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 journal › Article › peer-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 contribution	Peculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation
Original language	Italian
Pages (from-to)	189-190
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	136-137
Publication status	Published - May 2008

ASJC Scopus subject areas

Clinical Neurology

Cite this

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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",

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month = may,

language = "Italian",

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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

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JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

IS - 136-137

ER -

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

Abstract

ASJC Scopus subject areas

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