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    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.


    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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