IndraLab

Statements

SCN2A activates ID1. 3 / 3
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"Our study on the functional consequences of SCN2A variants causing the distinct phenotypes of EE, BFNIE and ID contributes to the elucidation of mechanisms underlying the broad phenotypic variability reported for SCN2A variants."
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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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"Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures."
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