The role of GABAergic signalling in neurodevelopmental disorders
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …
exciting new discoveries provides compelling evidence that disruptions in a number of key …
Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
Sleep in children with neurodevelopmental disabilities
This review describes recent research in pediatric sleep disorders associated with
neurodevelopmental disabilities (NDDs) and their treatment. NDDs affect more than 2% of …
neurodevelopmental disabilities (NDDs) and their treatment. NDDs affect more than 2% of …
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress
Rett Syndrome (RTT) is an autism spectrum disorder caused by mutations in the X-linked
gene encoding methyl-CpG binding protein 2 (MeCP2). In order to map the neuroanatomic …
gene encoding methyl-CpG binding protein 2 (MeCP2). In order to map the neuroanatomic …
Treating Rett syndrome: from mouse models to human therapies
N Vashi, MJ Justice - Mammalian Genome, 2019 - Springer
Rare diseases are very difficult to study mechanistically and to develop therapies for
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …
The relationship of Rett syndrome and MECP2 disorders to autism
JL Neul - Dialogues in clinical neuroscience, 2012 - Taylor & Francis
Rett syndrome (RTT, MIM# 312750) is a neurodevelopmental disorder that is classified as
an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression …
an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression …
Sleep disturbances in people with epilepsy; prevalence, impact and treatment
EGA van Golde, T Gutter, AW de Weerd - Sleep medicine reviews, 2011 - Elsevier
The interaction between epilepsy and sleep is thoroughly studied and is very complex. This
review focuses on prevalence, impact on quality of life and effects of treatment of sleep …
review focuses on prevalence, impact on quality of life and effects of treatment of sleep …
Many naps, one nap, none: A systematic review and meta-analysis of napping patterns in children 0–12 years
The onset of monophasic sleep, in which napping ceases and sleep consolidates into a
single night period, is a key developmental milestone of childhood. Yet to date, there is little …
single night period, is a key developmental milestone of childhood. Yet to date, there is little …
Sleep duration and sleep quality in people with and without intellectual disability: A meta-analysis
This study provides the first meta-analysis of the purported differences in sleep time and
sleep quality between people with and without intellectual disabilities. Twenty-one papers …
sleep quality between people with and without intellectual disabilities. Twenty-one papers …
Sleep disorders in Rett syndrome and Rett-related disorders: a narrative review
G Tascini, GB Dell'Isola, E Mencaroni… - Frontiers in …, 2022 - frontiersin.org
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …