|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ASD-associated SCN2A mutations impair the encoded protein Na<sub>V</sub>1.2, a sodium channel important for action potential initiation and propagation in developing excitatory cortical neurons.
|
31230762 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability.
|
30928199 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More recently, loss-of-function SCN2A mutations have also been identified in patients with autism spectrum disorder (ASD) without overt epileptic phenotypes.
|
31501495 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we generated iPSCs from a patient with ASD and a heterozygous nonsense mutation in SCN2A, by reprogramming mesenchymal stromal cells with non-integrating vectors.
|
31272037 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
|
29929112 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the involvement of the SCN1A and SCN2A genes encoding Na<sub>V</sub>1.1 and Na<sub>V</sub>1.2 channels in de novo ASD has previously been demonstrated, our study indicates the involvement of inherited SCN9A variants and partial loss-of-function of Na<sub>V</sub>1.7 channels in the etiology of rare familial ASD.
|
27956748 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, there is no previous description of a patient with comorbid ASD and Tourette syndrome showing a deletion containing SCN2A and SCN3A.
|
30071822 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders.
|
28714951 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events.
|
28831199 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This functional characterization thus identifies SCN2A mutation and Na<sub>V</sub>1.2 dysfunction as the most frequently observed ASD risk factor detectable by exome sequencing and suggests that associated changes in neuronal excitability, particularly in developing neurons, may contribute to ASD etiology.
|
28256214 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, even without parental samples, we find more ASD brains with mutations that are protein-altering (26/55 cases versus 12/50 controls, p = 0.015), deleterious (16/55 versus 5/50, p = 0.016), or loss-of-function (6/55 versus 0/50, p = 0.028) compared to controls, with recurrent deleterious mutations in ARID1B, SCN1A, SCN2A, and SETD2, suggesting these mutations contribute to ASD risk.
|
26637798 |
2015 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, de novo SCN2A mutations in autism spectrum disorder (ASD) have been identified.
|
24650168 |
2014 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
|
23849776 |
2013 |