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[Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jan 2022

Guan J, Du K X, Dong Y, Li L, Song P P, Gong H, Zhang X L, Jia T M

Abstract excerpt

Objective: To explore the clinical manifestations and genetic characteristics of patients with epilepsy and episodic ataxia caused by SCN2A gene variation. Methods: The clinical data of seizure manifestation, imaging examination and genetic results of 5 patients with epilepsy and (or) episodic ataxia because of SCN2A gene variation admitted to the Department of Pediatrics, the Third Affiliated Hospital of...

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Identifiers

PMID: 34986624
DOI: 10.3760/cma.j.cn112140-20210610-00491

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