Dominant SCN2A mutation with variable phenotype in two generations.

BACKGROUND

SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia.

CASE REPORT: We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature of SCN2A mutations presenting with episodic ataxia.

CONCLUSION

Our report has expanded the phenotype for SCN2A mutations.