The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
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 …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
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) …

Sleep in children with neurodevelopmental disabilities

M Angriman, B Caravale, L Novelli, R Ferri… - …, 2015 - thieme-connect.com
This review describes recent research in pediatric sleep disorders associated with
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

SL Fyffe, JL Neul, RC Samaco, HT Chao… - Neuron, 2008 - cell.com
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 …

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 …

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 …

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 …

Many naps, one nap, none: A systematic review and meta-analysis of napping patterns in children 0–12 years

S Staton, PS Rankin, M Harding, SS Smith… - Sleep Medicine …, 2020 - Elsevier
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 …

Sleep duration and sleep quality in people with and without intellectual disability: A meta-analysis

ADR Surtees, C Oliver, CA Jones, DL Evans… - Sleep Medicine …, 2018 - Elsevier
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 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 …