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• W2036516154 abstract "<b>Objective: </b> X chromosome inactivation and the <i>MECP2</i> genotype do not provide the full explanations for the clinical differences between patients with Rett syndrome (RTT), suggesting the involvement of other factors. One MeCP2 target is the brain-derived neurotrophic factor (BDNF) gene. We investigated, according to the <i>MECP2</i> genotype, the role of the <i>BDNF</i> functional polymorphism (Val66Met) on the severity of RTT. <b>Methods: </b> This polymorphism in <i>BDNF</i> was analyzed by PCR and dHPLC in 81 patients with RTT. We studied the association between the <i>MECP2</i> and <i>BDNF</i> genotypes and the clinical features in each patient. <b>Results: </b> We found that some RTT features can be correlated with <i>MECP2</i> genotypes. Missense mutations are associated with a more severe epileptic phenotype (early onset and drug resistance) than other mutations. Non-sense and late truncating mutations lead to a less severe phenotype regarding walking. The distribution of the Val66Met polymorphism was not significantly different between the different groups in regard to the severity of all tested symptoms. However, girls with RTT bearing the Val66Val genotype tend to present earlier seizures than girls with RTT bearing the Met66 allele. No girls with RTT with the Met66 allele presented early seizures. <b>Conclusions: </b> Early onset of seizures is linked to the combined <i>MECP2</i> and <i>BDNF</i> genotypes. The <i>BDNF</i> Met66 allele may protect against seizures, whereas missense mutations in the MBD of <i>MECP2</i> are more frequently associated with early seizures. <b>GLOSSARY: </b><b>BDNF</b> = brain-derived neurotrophic factor; <b>dHPLC</b> = denaturing high pressure liquid chromatography; <b>MBD</b> = methyl-binding domain; <b>NLS</b> = nuclear location signal; <b>RTT</b> = Rett syndrome; <b>TRD</b> = transcription repression domain; <b>XCI</b> = X-chromosome inactivation status." @default.
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• W2036516154 date "2008-04-23" @default.
• W2036516154 modified "2023-10-03" @default.
• W2036516154 title "The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome" @default.
• W2036516154 doi "https://doi.org/10.1212/01.wnl.0000304086.75913.b2" @default.
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