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Article

The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 25 Jan 2012

Lape Remigijus, Plested Andrew J R, Moroni Mirko, Colquhoun David, Sivilotti Lucia G

Abstract excerpt

Loss-of-function mutations in human glycine receptors cause hyperekplexia, a rare inherited disease associated with an exaggerated startle response. We have studied a human disease mutation in the M2-M3 loop of the glycine receptor α1 subunit (K276E) using direct fitting of mechanisms to single-c...

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Identifiers

PMID: 22279218
DOI: 10.1523/JNEUROSCI.4346-11.2012
PMCID: PMC6796251

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22279218-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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