Dominant SCN2A mutation with variable phenotype in two generations

BackgroundSCN2A mutations are some of the commonest causes neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia.Case reportWe present a patient with dominantly inherited SCN2A mutation presenting as ataxia in boy hemiplegia his father. We have briefly reviewed literature ataxia.ConclusionOur report has expanded phenotype for mutations.