2023
DOI: 10.1177/2329048x231163944
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SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report

Abstract: SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1. Given the rarity of SCN2A-associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A-associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxi… Show more

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