Results 1 to 10 of about 2,296,312 (307)
Rett syndrome: insights into genetic, molecular and circuit mechanisms [PDF]
Nature Reviews Neuroscience, 2018 Jacque P K Ip +2 more
exaly +3 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
Rett syndrome: Revised diagnostic criteria and nomenclature [PDF]
Annals of Neurology, 2010 Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Jeffrey L. Neul +2 more
exaly +3 more sources
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
doaj +1 more source
Trofinetide—a new chapter in rett syndrome’s treatment
Frontiers in Pharmacology, 2023 Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies.
Muhammad Furqan
doaj +1 more source
PLoS ONE, 2023 Rett syndrome, a rare genetic neurodevelopmental disorder in humans, does not have an effective cure. However, multiple therapies and medications exist to treat symptoms and improve patients’ quality of life.
Pradyumna Byappanahalli Suresha +4 more
doaj +2 more sources
Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease
Case Reports in Dentistry, 2022 Rett syndrome is a neurodevelopmental genetic X-linked disorder. It is predominantly found in females with a prevalence rate of 1 : 9000. Rett syndrome patients are usually healthy the first months of their lives.
Wisam Al-Hathlol +3 more
doaj +1 more source
Comparison of evoked potentials across four related developmental encephalopathies
Journal of Neurodevelopmental Disorders, 2023 Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking.
Joni N. Saby +12 more
doaj +1 more source
Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome:therapeutic perspectives for 5-HT1A agonists [PDF]
, 2014 Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Abdala, Ana Paula +2 more
core +3 more sources
Validating the Rett Syndrome Gross Motor Scale. [PDF]
PLoS ONE, 2016 Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this ...
Jenny Downs +6 more
doaj +1 more source