Results 121 to 130 of about 2,462,658 (261)

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

Egyptian Pediatric Association Gazette, 2015
Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are ...
Hisham Megahed, Amina Hindawy, Mohamed Mohamady   +2 more
doaj   +1 more source

Toward the language oscillogenome [PDF]

, 2018
Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency ...
Benítez Burraco, Antonio, Murphy, Elliot   +1 more
core   +2 more sources

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. Method Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to
Susan Thompson, Toni Bird, Gloria Tzannes, Carolyn Ellaway   +3 more
wiley   +1 more source

Unexpected cellular players in Rett syndrome pathology

Neurobiology of Disease, 2016
Rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl CpG-binding protein 2 (MeCP2). Although the genetic cause of disease was identified over a decade ago, a significant gap still remains in both our ...
James C. Cronk, Noel C. Derecki, Vladimir Litvak, Jonathan Kipnis   +3 more
doaj   +1 more source

Transposable Elements, Inflammation, and Neurological Disease. [PDF]

, 2019
Transposable Elements (TE) are mobile DNA elements that can replicate and insert themselves into different locations within the host genome. Their propensity to self-propagate has a myriad of consequences and yet their biological significance is not well-
Macia, Angela, Muotri, Alysson R, Saleh, Aurian   +2 more
core  

Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]

, 2019
Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G, Driscoll, Daniel J, Dykens, Elisabeth, Gold, June Anne, Kimonis, Virginia, Miller, Jennifer L, Tamura, Roy   +6 more
core   +1 more source

Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Elisabetta Ciani, Elenia Cinelli, Viviana Lo Martire, Giorgio Medici, Tommaso Mello, Elena Miglioranza, Alessandro Silvani, Donatella Mutolo, Giovanna Zoccoli   +12 more
wiley   +1 more source

Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings

Orphanet Journal of Rare Diseases
Background Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, this study aimed to investigate the
Ting-Yu Su, Yu-chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung   +5 more
doaj   +1 more source

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

BMC Medical Genetics, 2020
Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription.
Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nuti   +6 more
doaj   +1 more source