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Article

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.

Brain : a journal of neurology - 1 Oct 2013

Thomas Rhys H, Chung Seo-Kyung, Wood Sian E, Cushion Thomas D, Drew Cheney J G, Hammond Carrie L, Vanbellinghen Jean-Francois, Mullins Jonathan G L, Rees Mark I

Abstract excerpt

Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1 encoding the α1 subunit and GLRB encoding the β subunit. The third, SLC6A5, encodes the cognate presynaptic glycine transporter 2. Ninety-seven individuals had a...

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Source

Identifiers

PMID: 24030948
DOI: 10.1093/brain/awt207

Genes

GLRB
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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