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Article

[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].

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

Jing X W, Cheng M M, Niu X Y, Yang Y, Yang X L, Yang Z X, Zhang Y H

Abstract excerpt

Objective: To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. Methods: A total of 9 epileptic patients, who were treated in the Department of Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected with MBD5 gene pathogenic variants, were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed...

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Source

Identifiers

PMID: 35385942
DOI: 10.3760/cma.j.cn112140-20211015-00874

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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