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Article

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.

The Journal of biological chemistry - 23 Jan 2015

Arribas-González Esther, de Juan-Sanz Jaime, Aragón Carmen, López-Corcuera Beatriz

Abstract excerpt

Hyperekplexia or startle disease is a rare clinical syndrome characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. This neurological disorder can have serious consequences in neonates, provoking brain damage and/or sudden death due to apnea episodes and cardiorespiratory failure. Hyperekplexia is caused by defective inhibitory glycinergic neurotransmission. Mutations in the...

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Identifiers

PMID: 25480793
DOI: 10.1074/jbc.M114.587055
PMCID: PMC4303667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.PMID 25480793Read ↗

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