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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…
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Keywords:
impaired glycinergic;
rem sleep;
glycinergic transmission;
disorder ... See more keywords