GLRB is the third major gene of effect in hyperekplexia.

doi:10.1093/hmg/dds498

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Article

GLRB is the third major gene of effect in hyperekplexia.

Human molecular genetics - 1 Mar 2013

Chung Seo-Kyung, Bode Anna, Cushion Thomas D, Thomas Rhys H, Hunt Charlotte, Wood Sian-Elin, Pickrell William O, Drew Cheney J G, Yamashita Sumimasa, Shiang Rita, Leiz Steffen, Longardt Ann-Carolyn, Longhardt Ann-Carolyn, Raile Vera, Weschke Bernhard, Puri Ratna D, Verma Ishwar C, Harvey Robert J, Ratnasinghe Didi D, Parker Michael, Rittey Chris, Masri Amira, Lingappa Lokesh, Howell Owain W, Vanbellinghen Jean-François, Mullins Jonathan G, Lynch Joseph W, Rees Mark I

Abstract excerpt

Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α(1)-subunit (GLRA1) of the inhibitory glycine receptor (GlyR) and the cognate presynaptic glycine transporter (SLC6A5/GlyT2) are well-established genes of effect in hyperekplexia. Nevertheless, 52% of cases (117 from 232) remain gene...

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Identifiers

PMID: 23184146
DOI: 10.1093/hmg/dds498

Genes

GLRB
GLRA1

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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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