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Review

MeCP2 in central nervous system glial cells: current updates

Methyl-CpG binding protein 2 (MeCP2) is an epigenetic regulator, which preferentially binds to methylated CpG dinucleotides in DNA. MeCP2 mutations have been linked to Rett syndrome, a neurodevelopmental disorder characterized by severe intellectual disability in females. Earlier studies indicated that loss of MeCP2 function in neuronal cells was the sole cause of Rett syndrome. Subsequent studies have linked MeCP2 expression in CNS glial cells to Rett syndrome pathogenesis. In this review, we

Kedarlal Sharma, Juhi Singh, Emma E. Frost, Prakash P. Pillai

Acta Neurobiologiae Experimentalis , ISSUE 1, 30–40

Case report

Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS. Case study. The female child was born at term by normal

Elena Belousova, Vladimir Sukhorukov, Marina Dorofeeva, Lev Shagam, Dmitrii V. Vlodavetz

Journal of Epileptology , ISSUE 1-2, 47–51

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