IndraLab

Statements

SCN2A activates ARSD. 9 / 9
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"Gain-of-function (GoF) variants of SCN2A are closely associated with unprovoked seizures and epilepsy, whereas loss-of-function (LoF) or protein-truncating variants of SCN2A (collectively referred to as Na 1.2 deficiency) are leading genetic causes of autism spectrum disorder (ASD) and intellectual disability (ID) (Hoischen et al., 2014; Johnson et al., 2016; Sanders et al., 2012; Satterstrom et al., 2020; Wang et al., 2016a)."
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"As discussed previously, the ASD-causing Scn2a missense and deletion mutations can also be addressed by a mechanism like that of Nusinersen [26]."
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"Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU, SMARCA4) known to cause ASD or other neurodevelopmental disorders."
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"While we focused on understanding Na V 1.2 dysfunction in cortical pyramidal cells, SCN2A expression in other cell types may also contribute to ASD."
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"For example, loss-of-function variants in the SCN2A sodium channel gene impair glutamatergic neuronal excitability, leading to ASD and/or intellectual disability, while gain of function variants potentiate excitability leading to infantile-onset seizure phenotypes ."
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"This generates the hypothesis that SCN2A contributes to ASD and ID by disrupting synaptic function , like many other ASD genes , and that these effects persist in mature neurons ."
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"This generates the hypothesis that SCN2A contributes to ASD and ID by disrupting synaptic function, like many other ASD genes, and that these effects persist in mature neurons."
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"Various therapeutics exist that can be extrapolated to address the needs of Scn2a LOF induced ASD."
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"In order to focus on genes that are infrequently mutated we did not consider genes with more than three missense mutations, which notably included the well-documented ASD driver SCN2A, and six more genes (HLA-B, MAGEC1, MUC4, MUC5B, PABPC1, and RBMX)."
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