Results 11 to 20 of about 2,462,658 (261)
Romanian Journal of Pediatrics, 2009 Rett syndrome, a neurodegenerative disorder, occurs almost exclusively in female children and has an incidence of 1/15.000. Development proceeds normally until 1 year of age when regression of language and motor milestones and acquired microcephaly become apparent. An ataxic gait or fine tremor of hand movements is an early neurologic finding.
Mai-Lan Ho, Daniel Bell, Tom Foster
core +5 more sources
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome. [PDF]
PLoS ONE, 2013 ObjectiveRett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models.
Sofia Temudo Duarte +11 more
doaj +9 more sources
Molecular Syndromology, 2011 Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in <i>MECP2 ...
Smeets, Eric, Pelc, Karine, Dan, Bernard
+6 more sources
Rett syndrome: insights into genetic, molecular and circuit mechanisms
Nature Reviews Neuroscience, 2018 Jacque P K Ip +2 more
exaly +2 more sources
Global prevalence of Rett syndrome: systematic review and meta-analysis
Systematic Reviews, 2023 Background Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome.
U. Petriti +3 more
semanticscholar +1 more source
Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience
Genes, 2023 Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive.
Sandra Vilvarajan +9 more
semanticscholar +1 more source
Multiplex Epigenome Editing of MECP2 to Rescue Rett Syndrome Neurons
bioRxiv, 2022 Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by loss-of-function heterozygous mutations of Methyl CpG-binding Protein 2 (MECP2) on the X chromosome in girls.
Junming Qian +9 more
semanticscholar +1 more source
Indian Journal of Psychiatry, 2005 Rett syndrome is a rare, progressive, neurodevelopmental disorder that has been reported only in the girl child. We describe the case of a 6.9-year-old girl with Rett syndrome. She had normal development till the age of 2 years. However, over the next 4-5 months, she lost her acquired, purposeful hand skills; expressive and receptive language; and ...
Sitholey, Prabhat +2 more
+7 more sources
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Neuropsychiatric Disease and Treatment, 2022 Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein.
B. Collins, J. Neul
semanticscholar +1 more source
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
Frontiers in Genetics, 2021 Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development.
Katrina V. Good, J. Vincent, J. Ausió
semanticscholar +1 more source