Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes …

Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social
interactions, communication deficits, and repetitive behaviors with restricted interests. BTBR …

Copy number variations have been frequently associated with developmental delay,
intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of …

Autism spectrum conditions (ASCs) are heritable conditions characterized by impaired
reciprocal social interactions, deficits in language acquisition, and repetitive and restricted …

Genetic variants in chromatin regulators are frequently found in neurodevelopmental
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …

Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

Principles of Neurobiology, Second Edition presents the major concepts of neuroscience
with an emphasis on how we know what we know. The text is organized around a series of …

The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression …

The neurodevelopmental disorder Rett syndrome (RTT) is caused by sporadic mutations in
the transcriptional factor methyl-CpG–binding protein 2 (MeCP2). Although it is thought that …

Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of
function of the maternal ubiquitin protein ligase E3A (UBE3A) allele. Due to neuron-specific …