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Article

[Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2017

Li H, Yang Z X, Xue J, Qian P, Liu X Y

Abstract excerpt

Objective: To investigate the clinical and genetic features of a Chinese child with hyperekplexia and review the related literature. Method: The clinical and genetic data of one patient with hyperekplexia, who had visited the department of Pediatrics, Peking University First Hospital in July 2012, were analyzed. "Hyperekplexia" "startle disease" "GLRB" were used as key words to search at CNKI, Wanfang and PubMed...

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Source

Identifiers

PMID: 28173650
DOI: 10.3760/cma.j.issn.0578-1310.2017.02.013

Genes

GLRB

Variants

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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