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.
Cassetti A., Posar A., Sangiorgi S., Belmonte S., Santucci M. (2003). Different epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 gene. BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA, 121-122, 243-245.
Different epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 gene
Posar A.;Sangiorgi S.;Belmonte S.;Santucci M.
2003
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
