Diverso fenotipo epilettico in due casi di Sindrome di Rett con identica mutazione del gene MECP2

A. Cassetti; A. Posar; S. Sangiorgi; S. Belmonte; M. Santucci

Diverso fenotipo epilettico in due casi di Sindrome di Rett con identica mutazione del gene MECP2

Translated title of the contribution: Different epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 gene

A. Cassetti, A. Posar, S. Sangiorgi, S. Belmonte, M. Santucci

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

Rett Syndrome (RS) is a X-linked dominant neurodevelopmental disorder primarly affecting girls. Mutations in the MECP2 gene in Xq28 have been found in 70-80% of cases of RS. Till now genotype-phenotype correlation is not always clear. We describe the different clinical phenotype, in particular about epilepsy and EEG, in two cases of RS with the same mutation in the MECP2 gene. Because of the significantly difference between the two cases we analysed X-inactivation pattern and found it skewed in both.

Translated title of the contribution	Different epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 gene
Original language	Italian
Pages (from-to)	243-245
Number of pages	3
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	121-122
Publication status	Published - Jul 2003

ASJC Scopus subject areas

Clinical Neurology

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Cite this

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title = "Diverso fenotipo epilettico in due casi di Sindrome di Rett con identica mutazione del gene MECP2",

abstract = "Rett Syndrome (RS) is a X-linked dominant neurodevelopmental disorder primarly affecting girls. Mutations in the MECP2 gene in Xq28 have been found in 70-80% of cases of RS. Till now genotype-phenotype correlation is not always clear. We describe the different clinical phenotype, in particular about epilepsy and EEG, in two cases of RS with the same mutation in the MECP2 gene. Because of the significantly difference between the two cases we analysed X-inactivation pattern and found it skewed in both.",

keywords = "Epilepsy, Genotype-Phenotype Correlation, MECP2 Gene, Rett Syndrome, X-Chromosome Inactivation",

author = "A. Cassetti and A. Posar and S. Sangiorgi and S. Belmonte and M. Santucci",

year = "2003",

month = jul,

language = "Italian",

pages = "243--245",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

issn = "0394-560X",

publisher = "Lega Italiana contro l'Epilessia",

number = "121-122",

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TY - JOUR

T1 - Diverso fenotipo epilettico in due casi di Sindrome di Rett con identica mutazione del gene MECP2

AU - Cassetti, A.

AU - Posar, A.

AU - Sangiorgi, S.

AU - Belmonte, S.

AU - Santucci, M.

PY - 2003/7

Y1 - 2003/7

N2 - Rett Syndrome (RS) is a X-linked dominant neurodevelopmental disorder primarly affecting girls. Mutations in the MECP2 gene in Xq28 have been found in 70-80% of cases of RS. Till now genotype-phenotype correlation is not always clear. We describe the different clinical phenotype, in particular about epilepsy and EEG, in two cases of RS with the same mutation in the MECP2 gene. Because of the significantly difference between the two cases we analysed X-inactivation pattern and found it skewed in both.

AB - Rett Syndrome (RS) is a X-linked dominant neurodevelopmental disorder primarly affecting girls. Mutations in the MECP2 gene in Xq28 have been found in 70-80% of cases of RS. Till now genotype-phenotype correlation is not always clear. We describe the different clinical phenotype, in particular about epilepsy and EEG, in two cases of RS with the same mutation in the MECP2 gene. Because of the significantly difference between the two cases we analysed X-inactivation pattern and found it skewed in both.

KW - Epilepsy

KW - Genotype-Phenotype Correlation

KW - MECP2 Gene

KW - Rett Syndrome

KW - X-Chromosome Inactivation

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M3 - Articolo

AN - SCOPUS:1242272719

SP - 243

EP - 245

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 121-122

ER -