Different strokes: Variants of the SCN2A gene have a range of impacts on the Nav1.2 sodium channel and appear to relate to the different neurodevelopmental conditions that result, according to a new preprint. Notably, those variants that give rise to non-syndromic autism cause a loss of channel function. When these loss-of-function variants are co-expressed with […]
By compensating for a missing copy of SCN2A, one of the genes most strongly linked to autism, a variant of the gene-editing technology CRISPR can reduce susceptibility to seizures, according to a new study in mice. SCN2A haploinsufficiency—in which gene variants cause someone to have just one functional copy of SCN2A instead of the usual […]
