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Article

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

European journal of human genetics : EJHG - 1 Feb 2008

Becker Kristina, Breitinger Hans-Georg, Humeny Andreas, Meinck Hans-Michael, Dietz Bernd, Aksu Fuat, Becker Cord-Michael

Abstract excerpt

Mutations in the GLRA1 gene, which encodes the alpha1-subunit of the inhibitory glycine receptor (GlyR), are the underlying causes in the majority of cases of hereditary startle disease (OMIM no. 149400). GlyRs are modulated by alcohols and volatile anesthetics, where a specific amino acid at position 267 has been implicated in receptor modulation. We describe a hyperekplexia family carrying the novel dominant...

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Source

Identifiers

PMID: 18043720
DOI: 10.1038/sj.ejhg.5201958

Genes

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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The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.PMID 18043720Read ↗

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