The axon initial segment (AIS) is located at the proximal axon and is the site of action
potential initiation. This reflects the high density of ion channels found at the AIS. Adaptive …

Identifying converging pathways in syndromic forms of ASD will uncover novel therapeutic
targets for non-syndromic ASD. Insights into developmental synaptopathies will lead to …

In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its
molecular and cellular underpinnings, and current treatment strategies. AS is a …

Abstract Maternally inherited 15q11-13 chromosomal triplications cause a frequent and
highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes …

Neurons implement a variety of plasticity mechanisms to alter their function over timescales
ranging from seconds to days. One powerful means of controlling excitability is to directly …

Understanding which cellular compartments are influenced during neuromodulation
underpins any rational effort to explain and optimize outcomes. Axon terminals have long …

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and
autism spectrum disorder. FXS is caused by silencing of the FMR1 gene, which encodes …

Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally
inherited UBE3A allele and is characterized by developmental delay, intellectual disability …

While the precise processes underlying a sex bias in the development of central nervous
system (CNS) disorders are unknown, there is growing evidence that an early life immune …

The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or
duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome …