IndraLab

Statements

SCN2A binds ARSD. 5 / 5
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"Given the strong association of SCN2A with ASD ( xref ), we next tested whether Scn2a +/- mice display autistic-like impairments in social and repetitive behaviors."
31249508
sparser
"Behaviors associated with an autistic-like phenotype, including social interaction/communication and repetitive behaviors, were largely normal in Scn2a +/- mice ( xref ), a surprising result considering the strong association of SCN2A with ASD."
31249508
sparser
"Mutations in SCN2A are strongly associated with both ASD and infantile seizures."
28256214
reach
"For example, Sanders et al. demonstrate in a study which identifies de novo coding mutations in 928 individuals that finding two independent de novo mutations in a single gene is highly unlikely by chance, and this occurring is viewed as evidence for association between ASD and the gene SCN2A (sodium channel, voltage gated, type II, alpha subunit) [XREF_BIBR]."
29898714
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"Although our case-control study includes inherited variation and does not have the power of a de novo study to isolate high-penetrance PTVs, we do observe genes flagged by de novo studies -- such as ANKRD11, which is associated with intellectual disability 22, and SCN2A, which is associated with ASD 13 -- among genes with a p value of less than 0.01."
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