Copy number variations (CNVs) in the Neurexin 1 (NRXN1) gene, which encodes a
presynaptic protein involved in neurotransmitter release, are some of the most frequently …

Background Copy number variants have emerged as an important genomic cause of
common, complex neurodevelopmental disorders. These usually change copy number of …

Autism is a common and frequently disabling neurodevelopmental disorder with a strong
genetic basis. Human genetic studies have discovered mutations disrupting exons of the …

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition
characterized by social communication challenges and repetitive behaviors. Recent …

Autism is a brain developmental disorder characterized by impaired social interaction and
communication, as well as restricted and repetitive behaviors. The neurexin-1 (NRXN1) …

Human genetics has identified rare copy number variations and deleterious mutations for all
neurexin genes (NRXN1-3) in patients with neurodevelopmental diseases, and …

Growing genetic evidence is converging in favor of common pathogenic mechanisms for
autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and …

Neurexins are neuronal presynaptic proteins that play a key role in mediation of synapse
formation. Heterozygous partial deletions in the neurexin-1 gene (NRXN1, 2p16. 3) have …

Members of the neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and
neurexin 3 (NRXN3) encode important components of synaptic function implicated in autism …

Abstract Neurexin 1 (NRXN1) is a large presynaptic transmembrane protein that has
complex and variable patterns of expression in the brain. Sequence variants in NRXN1 are …