Autism is a neurodevelopmental disorder of unknown etiology characterized by social and
communication deficits and the presence of restricted interests/repetitive behaviors. Higher …

DNA methylation plays a critical role in the regulation of chromatin structure and gene
expression and is involved in a variety of biological processes. The levels and patterns of …

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 a severe and progressive neurological disorder, which mainly affects
young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most …

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

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the
presence of non-functional CDKL5 protein, ie, serine-threonine kinase (previously referred …

Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic
encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we …

Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene
encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation …

Early-onset epileptic encephalopathies are severe disorders often associated with specific
genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a …

Mutations in cyclin-dependent kinase-like 5 (CDKL5), also known as serine/threonine
kinase 9 (STK9), have been identified in patients with Rett syndrome (RTT) and X-linked …