Mutations of the SCN2A gene can result in a range of different clinical syndromes. Whilst most presentations have epilepsy, autism and a degree of developmental impairment there is a lot of variation, and these variations reflect different expressions of gene function.
Understanding these different clinical presentations can help to guide treatment, and will be critical as SCN2A treatment moves towards disease modifying treatments. It can also give insights in to prognosis and help families better understand what the future holds.