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. 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. Our report has expanded the phenotype for SCN2A mutations. Copyright © 2020 The Japanese Society of Child Neurology. All rights reserved.

Citation

Gouri Rao Passi, Shekeeb S Mohammad. Dominant SCN2A mutation with variable phenotype in two generations. Brain & development. 2021 Jan;43(1):166-169

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PMID: 32893078

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