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

Research output: Contribution to journalArticlepeer-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 contributionDifferent epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 gene
Original languageItalian
Pages (from-to)243-245
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number121-122
Publication statusPublished - Jul 2003

ASJC Scopus subject areas

  • Clinical Neurology

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