Portfolio of SCN2A gene variants, and extra
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 wildtype channels, a dominant-negative effect occurs, indicating an overall disruption of channel activity. The Transmitter has previously reported on differential effects of SCN2A variants on the workings of sodium channels.
