Article

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia

2023-01-04

Abstract excerpt

<title>Abstract</title> <p>Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or acoustic stimuli. In this study, we present a Miniature Australian Shepherd family showing clinical signs which have genetic and phenotypic similarities with human hereditary hyperekplexia: episodes of muscle stiffness that could occasionally be triggered by acousti...

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Literature Corpus work: 524b1715-8121-5f41-90c3-16aa11fa4e8e
DOI: 10.21203/rs.3.rs-2405320/v1

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