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Article

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.

Biological chemistry - 1 Apr 2012

James Victoria M, Gill Jennifer L, Topf Maya, Harvey Robert J

Abstract excerpt

Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1). However, mutations have also been discovered in the genes encoding the GlyRβ subunit (GLRB)...

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Identifiers

PMID: 22114948
DOI: 10.1515/BC-2011-232

Genes

GLRA1
GLRB

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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