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Article

[Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].

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

Wang D H, Niu X Y, Cheng M M, Chen Y, Yang Y, Yang X L, Yang Z X, Zhang Y H

Abstract excerpt

Objective: To analyze the genotypes and clinical phenotypes of patients with epilepsy associated with IQSEC2 gene variants. Methods: The genotypes, seizure types, electroencephalogram, neuroimage of 6 patients with IQSEC2 gene variants in the Department of Pediatrics, Peking University First Hospital from July 2019 to October 2021 were analyzed. Results: There were 5 males and 1 female. Six variants were de novo,...

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Identifiers

PMID: 36444437
DOI: 10.3760/cma.j.cn112140-20220614-00550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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