Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects
predominantly females. In most cases, RTT is associated with pathogenic variants in …

Introduction Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that
primarily affects girls, with an incidence of 1: 10,000–20,000. The diagnosis is based on …

FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and
single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis …

The WDR45 gene is localized on the X-chromosome and variants in this gene are linked to
six different neurodegenerative disorders, ie, ß-propeller protein associated …

Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

Developmental regression occurs in approximately one-third of children with autism
spectrum disorder (ASD). There is a strong genetic influence in ASD and hundreds of genes …

The AAV9 gene therapy vector presented in this study is safe in mice and non-human
primates and highly efficacious without causing overexpression toxicity, a major challenge …

Heterozygous mutations in the FOXG1 gene manifest as FOXG1 syndrome, a severe
neurodevelopmental disorder characterized by structural brain anomalies, including …

FOXG1 syndrome (FS, aka a congenital variant of Rett syndrome) is a recently defined rare
and devastating neurodevelopmental disorder characterized by various symptoms …

Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls.
Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia …