IndraLab

Statements

SCN2A binds ARSD. 5 / 5
| 2 3
sparser
"Mutations in SCN2A are strongly associated with both ASD and infantile seizures."
28256214
reach
"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."
31768057
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
sparser
"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