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Neurodevelopmental Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia.
|
31812984 |
2019 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These are the first experimental data that associate a deletion of Neurexin 1α with alterations in behaviours relevant to autism spectrum disorder across development and highlight the importance of assessing the developmental trajectory in mouse models of neurodevelopmental disorders.This article is protected by copyright.All rights reserved.
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31823470 |
2019 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Neurexin 1 gene (NRXN1) deletions are associated with several neurodevelopmental disorders.
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30358070 |
2018 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In two patients we detected de-novo CNVs encompassing genes previously associated with different neurodevelopmental disorders (NRXN1, ANKS1B, UHRF1BP1).
|
29179725 |
2017 |
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Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
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group |
BEFREE |
The results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders.
|
27195815 |
2017 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
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24339137 |
2014 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
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group |
BEFREE |
Particularly, we found rare microdeletions within or near two genes, RBFOX1 and NRXN1, previously shown to harbor deletions associated with idiopathic generalized epilepsy, and a microduplication in the proximal region of chromosome 1q21.1, where duplications have been associated with various neurodevelopmental disorders and epilepsy.
|
25243798 |
2014 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia.
|
24633560 |
2014 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exonic deletions in NRXN1 have been associated with several neurodevelopmental disorders, including autism, schizophrenia and developmental delay.
|
23536886 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong association with the autism spectrum and other neurodevelopmental disorders.
|
23472757 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS.
|
23533600 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9).
|
23393157 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders.
|
23533028 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder.
|
23840597 |
2013 |
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Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The data reported here support a role for synaptic defects of neurexin-1β in neurodevelopmental disorders.
|
22504536 |
2012 |
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Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
We review the evidence for the role of neurexin-1α in schizophrenia and ASD, and consider how genetic disruption of neurexin-1α may underpin the neuropathology contributing to these distinct neurodevelopmental disorders.
|
21262241 |
2012 |
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Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental disorders, but no such associations have been reported for NRXN2 or NRXN3.
|
21424692 |
2011 |