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Article

Anesthetic management of a parturient with hyperekplexia.

A & A case reports - 15 Apr 2015

Chau Anthony, Roitfarb Marni, Carabuena Jean Marie, Camann William

Abstract excerpt

Hyperekplexia is a hereditary disorder characterized by exaggerated startle reflex in response to unexpected acoustic, tactile, and other stimuli. Neonates with hyperekplexia may present with hypertonia, developmental delays, apnea, and sudden death. The diagnosis is based on published clinical criteria. In some cases, a mutation encoding the postsynaptic inhibitory glycine receptors (GLRA1, GLRB) or presynaptic...

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Share to Glycine
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25867194
DOI: 10.1213/XAA.0000000000000135

Genes

GLRA1
GLRB

Provenance

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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