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Article

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

Movement disorders : official journal of the Movement Disorder Society - 15 Aug 2007

Forsyth Rob J, Gika Artemis D, Ginjaar Ieke, Tijssen Marina A J

Abstract excerpt

We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.

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Source

Identifiers

PMID: 17534957
DOI: 10.1002/mds.21574

Genes

GLRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17534957-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A novel GLRA1 mutation in a recessive hyperekplexia pedigree.PMID 17534957Read ↗

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

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.Semantic proximity Read ↗

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