Results 11 to 20 of about 3,757,153 (283)
Evaluation Tools Developed for Rett Syndrome
Diagnostics, 2023 Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several ...
Meir Lotan +3 more
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Neuropediatrics, 2017 Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett.
S. Naidu, C. L. Smith-Hicks
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Hand Stereotypies in Rett Syndrome
Pediatric Neurology Briefs, 2020 Researchers from the Rett Syndrome Natural History Study organized a longitudinal study across the United States of America with the aim to characterize hand stereotypies in patients with Rett syndrome.
Matheus G Ferreira, Helio A. G. Teive
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Rett Syndrome; Diagnostic Criteria
Pediatric Neurology Briefs, 1988 Diagnostic criteria for Rett Syndrome are proposed by the International Rett Syndrome Association and the Centers for Disease Control, Koger Center, F-37, Atlanta, GA.
J Gordon Millichap
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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
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Fenfluramine in Rett syndrome: A multidimensional clinical study. [PDF]
Epilepsia OpenAbstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Gonzalez-Alguacil E +11 more
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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
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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
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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.
Jun-Ming Qian +9 more
semanticscholar +1 more source
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
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