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Article

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

Annals of neurology - 1 Oct 1999

Vergouwe M N, Tijssen M A, Peters A C, Wielaard R, Frants R R

Abstract excerpt

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the alpha1 subunit of the glycine receptor, were found in...

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Source

Identifiers

PMID: 10514101
DOI: 10.1002/1531-8249(199910)46:4<634::aid-ana12>3.0.co;2-9

Genes

GLRA1

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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Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.Semantic proximity Read ↗

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