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Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention
The Scientific World Journal, 2006 Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.
Meir Lotan, Bruria Ben-Zeev
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Frontiers in Integrative Neuroscience, 2020 Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new
Joni N. Saby +6 more
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Rett Syndrome. Guidelines for Individual Intervention
The Scientific World Journal, 2006 Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome.
Meir Lotan
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Disease modelling of a human neurodevelopmental disorder using mouse embryonic stem cells [PDF]
, 2011 As cultured embryonic stem (ES) cells can be differentiated in neurons under well-defined conditions, they provide a unique opportunity to model and study diseases of the nervous system such as Rett syndrome.
Yazdani Shektaei, Morteza
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Osteoporosis in Rett Syndrome: A Study on Normal Values
The Scientific World Journal, 2006 Osteoporosis is the reduction of calcium density in bones, usually evident in postmenopausal females, yet the tendency for osteoporosis can also be identified at a young age, especially in patients with chronic diseases, disabilities, and on chronic ...
Lilit Zysman +2 more
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iScience, 2022 Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of
Stephanie A. Zlatic +17 more
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Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies [PDF]
, 2011 Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
Rottach Andrea +53 more
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Digital Health, 2023 Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders.
Miroslava Migovich +4 more
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Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
Frontiers in Neurology, 2022 Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible ...
Giorgia Tascini +6 more
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EEG Findings in Patients with Rett Syndrome [PDF]
, 2017 Objectives: Rett syndrome (RS) is a neurodevelopmental disorder that primarily affects girls and is characterized by microcephaly, regression of language, loss of effective hand use, epilepsy, and electroencephalogram (EEG) abnormalities.
Oge, Ali Emre +9 more
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