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Article

Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Apr 2002

Becker Lore, von Wegerer Jörg, Schenkel Johannes, Zeilhofer Hanns-Ulrich, Swandulla Dieter, Weiher Hans

Abstract excerpt

Hereditary hyperekplexia is caused by disinhibition of motoneurons resulting from mutations in the ionotropic receptor for the inhibitory neurotransmitter glycine (GlyR). To study the pathomechanisms involved in vivo, we generated and analyzed transgenic mice expressing the hyperekplexia-specific dominant mutant human GlyR alpha1 subunit 271Q. Tg271Q transgenic mice, in contrast to transgenic animals expressing a...

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Identifiers

PMID: 11923415
PMCID: PMC6758287

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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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