In the majority of patients, Rett syndrome is caused by mutations in the MECP2 gene, which maps to Xq28 and encodes methyl-CpG binding protein 2. How MECP2 mutations lead to Rett syndrome is not yet established. The diagnosis of classic Rett syndrome rests on clinical diagnostic criteria.
This thesis comprises a number of studies, aimed to improve the knowledge of neurologic and metabolic aspects of Rett syndrome, and to summarize a number of clinical trials which have been conducted.
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