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Mutations identified by exome sequencing demonstrate that disruption of the gene SCN2A, which encodes the neuronal sodium channel NaV1.2, is strongly associated with autism spectrum disorder (ASD). -
SHANK2, a protein that is located underneath synapses in excitatory neurons, is a high-confidence risk gene for autism spectrum disorder (ASD). -
Previously, Benjamin Blencowe and colleagues demonstrated that highly conserved, 3-27 nucleotide-long, neuronal microexons have reduced levels of splicing in the brains of more than one-third …
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Autism spectrum disorders (ASDs) are a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and restricted and repetitive behavior.
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Many individuals diagnosed with autism spectrum disorder (ASD) and related neurodevelopmental disorders, like fragile X syndrome (FXS), show alterations in sensory processing.
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The majority of autism spectrum disorder (ASD) research has focused on brain-specific mechanisms and circuits, with relatively little attention to the contributions of the peripheral nervous system …
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Shank and CaMKII are two extremely abundant proteins in the postsynaptic densities of excitatory synapses.
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Individuals with autism spectrum disorder (ASD) exhibit high levels of behavioral inflexibility, characterized by “insistence on sameness” and restricted, repetitive patterns of behavior.
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In spite of significant, recent advances in the molecular genetics and neuroscience of mental health disorders, behavioral ratings based on clinical observations are still the gold standard for … -
Human brain evolution has played a pivotal role in the success of the human species, but it is also linked to an increased susceptibility to neurodevelopmental disorders such …
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Mutations in calcium channels and calcium-signaling proteins have been reproducibly linked to neurodevelopmental disorders, including autism spectrum disorders (ASD), underscoring essential roles for calcium-dependent signaling in …
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Repetitive behaviors and altered movements are often observed in children with autism.
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Rapid progress in identifying penetrant and common genetic risk factors is yielding deep insights into putative molecular networks affected in autism spectrum disorder (ASD). -
Autism spectrum disorders (ASDs) are prevalent neurodevelopmental disorders characterized by repetitive behaviors and impairments in social interaction.
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Myt1-like (Myt1l) is a zinc finger transcription factor that has a unique expression pattern: it is both highly specific for and is expressed in virtually all neurons.
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The striatum is the major input structure for the basal ganglia, processing inputs from virtually all cerebral cortical areas and from the thalamus, thus modulating motor, emotional and …
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Gastrointestinal (GI) disorders are among the most common medical comorbidities in individuals with autism spectrum disorder (ASD).
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Cellular function is intimately linked to subcellular architecture.
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Pamela Ventola seeks to develop more precise treatments for children with autism spectrum disorder (ASD), guided by their distinct brain profiles.
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The recent explosion in the identification of genetic risk factors for autism spectrum disorder (ASD) has revealed many genes that are likely to be involved in these debilitating …
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Defects in sensory information processing are considered to be almost universal in individuals with autism spectrum disorder (ASD).
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Fragile X syndrome (FXS) is a devastating X-linked genetic disorder that is the most-common known cause of inherited intellectual disability.
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The subunits of the switch/sucrose non-fermentable (i.e., BAF or SWI/SNF) complex are among the most commonly mutated genes in human neurodevelopmental disease and include …
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Autism spectrum disorder (ASD) exhibits complex genetic architecture with well-demonstrated contributions of both common and rare, especially de novo, variants. -
Despite substantial recent progress in the discovery of multiple rare de novo and inherited causative mutations in over 100 genes, most of the genetic liability of autism spectrum …
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Viral infection during pregnancy correlates with increased frequency of neurodevelopmental disorders in offspring, a phenomenon well studied in mice prenatally subjected to maternal immune activation (MIA).
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Although autism spectrum disorders (ASDs) are traditionally described as disorders of the central nervous system, there is emerging evidence suggesting the presence of systemic physiological abnormalities, such as …
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During corticogenesis, excitatory neurons are born from neural progenitor cells (NPCs).
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The etiology of autism spectrum disorder (ASD) is poorly understood; however, emerging clinical and epidemiological data have linked dysregulated immune responses with ASD.
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Whole-exome and whole-genome surveys have revealed multiple transcriptional regulators harboring loss of function mutations associated with risk for autism spectrum disorder (ASD).
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One of the most important steps in understanding the biology of autism spectrum disorder (ASD) is elucidating the basic neurodevelopmental mechanisms governing cell type specification and how these …
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Some of our most complex behavior, such as speaking, swimming or playing the piano, can be understood by breaking the behavior down into a sequential succession of learning … -
The human brain is a daunting object: It contains nearly 100 billion neurons, each one linked to roughly 10,000 other neurons, making 100 trillion total connections in … -
Our brains are able to store information about the world for several seconds after it was acquired, for example the shape and identity of an animal that disappeared … -
Imagine a tennis player hitting a forehand, but in slow-motion: There is anticipatory footwork, alignment of the body, preparation of the racquet, the wind-up and swing … -
Context matters when making a decision. -
When deciding whether to eat an apple, you might focus on its color, firmness and smell. -
Loosely speaking, we all have two brains. -
Animals often move in response to the senses. -
The brain of any animal has to operate on multiple timescales at once. -
In the last few years, powerful experimental techniques that can monitor the activity of many neurons at once have generated a new field of neuroscience — ‘neural dynamics’ — which … -
A central goal of neuroscience is to decode the brain activity responsible for decisions and actions. -
Every time we open our eyes, we take in far too much visual information for our brains to fully process.