Related Experiment Video
Updated: Dec 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Dominant SCN2A mutation with variable phenotype in two generations
Gouri Rao Passi1, Shekeeb S Mohammad2
1Department of Pediatrics, Choithram Hospital & Research Centre, Indore, India.
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.
Related Concept Videos
Genetic Lingo
Incomplete Dominance
Pedigree Analysis
Pleiotropy
Sex-linked Disorders
Law of Segregation

