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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 compared with all published cases of hyperekplexia with an identified genetic cause. Ethnicities were subgrouped as...

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Source

Identifiers

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

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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