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Article

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Human molecular genetics - 1 Apr 2002

Rees Mark I, Lewis Trevor M, Kwok John B J, Mortier Geert R, Govaert Paul, Snell Russell G, Schofield Peter R, Owen Michael J

Abstract excerpt

Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the alpha1-subunit (GLRA1) of the heteropentameric human inhibitory glycine receptor (hGlyR). These receptors facilitate fast-response, inhibitory glycinergic neurotransmission in the brainstem and spinal cord leading to a rapid modification and reduction of the excitatory...

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Source

Identifiers

PMID: 11929858
DOI: 10.1093/hmg/11.7.853

Genes

GLRB
GLRA1

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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Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).PMID 11929858Read ↗

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GLRB is the third major gene of effect in hyperekplexia.Semantic proximity Read ↗

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The impact of human hyperekplexia mutations on glycine receptor structure and function.Semantic proximity Read ↗

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.Semantic proximity Read ↗

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.Semantic proximity Read ↗

Hyperekplexia: a treatable neurogenetic disease.Semantic proximity Read ↗

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.Semantic proximity Read ↗

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Hyperekplexia: abnormal startle response due to glycine receptor mutations.Semantic proximity Read ↗

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