Dominant SCN2A mutation with variable phenotype in two generations

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

Source: Brain and Development - September 4, 2020 Category: Neurology Authors: Gouri Rao Passi, Shekeeb S. Mohammad Tags: Case Report Source Type: research