Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

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 had symptoms of REM sleep behavior disorder (RBD). Frequent startles were found in NREM sleep associated with NREM parasomnias in deep sleep. In REM sleep, both had motor behaviors and increased phasic/tonic muscle activities confirming RBD. Clonazepam improved startles, motor behaviors, and muscle activities in REM sleep. Impaired glycinergic transmission in human HH could be involved in the pathophysiology of RBD and NREM parasomnias.
Document type :
Journal articles
Complete list of metadatas

https://hal.archives-ouvertes.fr/hal-02265333
Contributor : Dominique Mornet <>
Submitted on : Friday, August 9, 2019 - 1:51:38 PM
Last modification on : Saturday, August 10, 2019 - 1:17:44 AM

Links full text

Identifiers

Collections

Citation

Regis Lopez, François Rivier, Yves Dauvilliers, Jamel Chelly. Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder. Annals of Clinical and Translational Neurology, Wiley, 2019, ⟨10.1002/acn3.50866⟩. ⟨hal-02265333⟩

Share

Metrics

Record views

12