Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50866
Abstract: We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH). Both sisters had startles during wakefulness and sleep, sleep terrors, and one… read more here.
Keywords: impaired glycinergic; rem sleep; glycinergic transmission; disorder ... See more keywords
Anesthetic Management of an Adult With Hyperekplexia Undergoing a Laparoscopic Colectomy: A Case Report.
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DOI: 10.1213/xaa.0000000000001571
Abstract: Hyperekplexia is a rare genetic disorder characterized by an exaggerated startle response to innocuous stimuli. There are several case reports documenting the administration of general anesthesia to infants and children with hyperekplexia and 1 case… read more here.
Keywords: laparoscopic colectomy; hyperekplexia; report; case report ... See more keywords