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Article

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.

The European journal of neuroscience - 1 Jul 2002

Rea Ruth, Tijssen Marina A, Herd Colin, Frants Rune R, Kullmann Dimitri M

Abstract excerpt

The human disease hyperekplexia is characterized by excessive startle reactions to auditory and cutaneous stimuli. In its familial form, hyperekplexia has been associated with both dominant and recessive mutations of the GLRA1 gene encoding the glycine receptor alpha1 subunit (GlyRalpha1), which mediates inhibitory transmission in the spinal cord and brainstem. Here we have examined the functional consequences of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Glycine

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Source

Identifiers

PMID: 12169101
DOI: 10.1046/j.1460-9568.2002.02054.x

Genes

GLRA1

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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Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.PMID 12169101Read ↗

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Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.Semantic proximity Read ↗

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

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.Semantic proximity Read ↗

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.Semantic proximity Read ↗

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Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Semantic proximity Read ↗

The glycinergic system in human startle disease: a genetic screening approachSemantic proximity Read ↗

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.Semantic proximity Read ↗

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