Pathogenesis of Rett Syndrome

Principal Investigator: SakkuBai Naidu

This is an observational study of the natural history and clinical course of Rett Syndrome (RTT), a neurodevelopmental disorder primarily affecting females, caused by mutations in the MeCP2 gene. Our hypothesis is to characterize contributors to the phenotypic variability among mutations in MeCP2 and within the same mutation, to influence prognostic capability and treatment. Also, in those without a mutation, we will assess similarities in molecular and clinical profiles that account for the resemblance to RTT.

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