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Article

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2015

Thomas R H, Drew C J G, Wood S E, Hammond C L, Chung S K, Rees M I

Abstract excerpt

OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance. METHODS: We carefully ascertained reports of ethnicity from our hyperekplexia research cohort. These were com...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Carrier Screening

Share to Point Mutation

Share to Receptors, Glycine

Source

Identifiers

PMID: 24970905
DOI: 10.1136/jnnp-2014-307903

Genes

GLRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24970905-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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