Mutations in genes essential for synaptic function, such as the presynaptic adhesion
molecule Neurexin1α (Nrxn1α), are strongly implicated in neuropsychiatric pathophysiology …

Autism spectrum disorder (ASD) is appropriately named due to the broad variability or
clinical heterogeneity, which in turn is linked to genetic heterogeneity. Such clinical …

Background: Heterozygous, large-scale deletions at 14q24. 3-31.1 affecting the neurexin-3
gene have been associated with neurodevelopmental disorders such as autism. Both “de …

The neurexins are a family of presynaptic cell adhesion molecules. Human genetic studies
have found heterozygous deletions affecting NRXN1 and NRXN2, encoding α-neurexin I …

Deletions in the neurexin-1α gene were identified in large-scale unbiased screens for copy-
number variations in patients with autism or schizophrenia. To explore the underlying …

Synapses, highly specialized membrane junctions between neurons, connect presynaptic
neurotransmitter release sites and postsynaptic ligand‐gated channels. Neurexins (Nrxns) …

Neurexins and neuroligins are cell adhesion molecules present in excitatory and inhibitory
synapses, and they are required for correct neuron network function1. These proteins are …

Mutations in neurexin and neuroligin genes have been associated with neurodevelopmental
disabilities including autism. Autism spectrum disorder is diagnosed by aberrant reciprocal …

NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …

NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …