{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:46:47Z","timestamp":1792021607661,"version":"4.4.0"},"reference-count":55,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2008,10,24]],"date-time":"2008-10-24T00:00:00Z","timestamp":1224806400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,10,24]],"date-time":"2008-10-24T00:00:00Z","timestamp":1224806400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Rett syndrome (RTT, MIM No. 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation. It is transmitted as an X-linked dominant trait, therefore almost exclusively affecting females. About 80% of RTT cases are sporadic caused by mutations in the &lt;i&gt;MECP2&lt;\/i&gt; gene located on Xq28. The gene codes for two isoforms of the methyl-CpG-binding protein (MeCP2, MeCP2B) which are involved in transcriptional silencing through DNA methylation. The gene has 4 exons. The fourth one is the largest. Almost all mutations in &lt;i&gt;MECP2&lt;\/i&gt; occur de novo. Although mutations are dispersed throughout the gene, about 67% of all &lt;i&gt;MECP2&lt;\/i&gt; mutations, caused by C&gt;T transitions at 8 CpG dinucleotides, are located in the third and fourth exon. The most common mutation is R168X. So far, there is no clear evidence on genotype-phenotype correlations. There are also reports claiming that the same mutation can provoke different phenotypes. It was shown that MeCP2 can silence certain genes. One of them, brain-derived neurotrophic factor, is essential for neural plasticity, learning and memory. This discovery revealed the role of MeCP2 in the control of neuronal activity-dependent gene regulation and suggested that the pathology of RTT may result from deregulation of this process.<\/jats:p>","DOI":"10.1159\/000165342","type":"journal-article","created":{"date-parts":[[2008,10,24]],"date-time":"2008-10-24T13:39:27Z","timestamp":1224855567000},"page":"3-10","source":"Crossref","is-referenced-by-count":56,"title":["Rett Syndrome: From the Gene to the 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