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) …

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

The high level of 5-hydroxymethylcytosine (5hmC) present in neuronal genomes suggests
that mechanisms interpreting 5hmC in the CNS may differ from those present in embryonic …

Objectives To examine patterns of autism spectrum disorder (ASD) inheritance and other
features in twin pairs by zygosity, sex, and specific ASD diagnosis. Design Cross-sectional …

Background Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls,
is characterised by a period of apparently normal development until 6–18 months of age …

The clinical understanding of the CDKL5 disorder remains limited, with most information
being derived from small patient groups seen at individual centres. This study uses a large …

Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits.
Because several of these abnormalities occur in other disease states associated with …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by altered social
interaction and communication, and repetitive, restricted, inflexible behaviors. Approximately …

Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females
resulting in severe cognitive and physical disabilities. Despite the commendable collective …

BDNF is the best-characterized neurotrophin in terms of its gene structure and modulation,
secretion processing, and signaling cascades following its release. In addition to diverse …