Results 21 to 30 of about 2,296,312 (307)
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
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Nature Medicine, 2023 Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth factor 1 protein, and has demonstrated clinical benefit in phase 2 studies ...
J. Neul +9 more
semanticscholar +1 more source
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
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
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
Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome [PDF]
Annals of Clinical and Translational Neurology, 2018 To measure the efficacy of mecasermin (recombinant human insulin‐like growth factor 1, rhIGF‐1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double‐blind crossover study design.
Heather M. O’Leary +18 more
openalex +2 more sources
Excitation and Inhibition Imbalance in Rett Syndrome
Frontiers in Neuroscience, 2022 A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a common neuropathological feature in many neurodevelopmental disorders.
Wei Li
semanticscholar +1 more source