Discovery of the causative gene of a certain disease clarifies its phenotypic heterogeneity. An unknown disease presenting with a distinct clinical and neurophysiological phenotype is often found to be caused by a mutation of the same gene for a genetically established disease. Thus, detection of a gene responsible for a variety of clinical phenotypes has an impact not only for investigating pathophysiology of a group of diseases but also for demonstrating common neural characteristics that had not been revealed by conventional neuropathological, biochemical or neurophysiological studies. Rett syndrome is not an exception. We should not miss a good opportunity at this stage.
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