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Article

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.

BMC medical genetics - 6 Oct 2017

Yang Zhiliang, Sun Guilian, Yao Fang, Tao Dongying, Zhu Binlu

Abstract excerpt

BACKGROUND: The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane domain (TMD) with 4 α-helices (TM1-TM4). CASE PRESENTATION: We investigated the genetic cause of hyperekplexia in a Chinese...

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Source

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Identifiers

PMID: 28985719
DOI: 10.1186/s12881-017-0476-6
PMCID: PMC5631533

Genes

GLRA1
ECD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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