A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biological Psychiatry,Psychiatry and Mental health,Clinical Neurology,Neurology
Link
http://link.springer.com/article/10.1007/s00702-018-1924-y/fulltext.html
Reference41 articles.
1. Andermann F, Keene DL, Andermann E, Quesney LF (1980) Startle disease or hyperekplexia: further delineation of the syndrome. Brain 103:985–997
2. Beato M, Groot-Kormelink PJ, Colquhoun D, Sivilotti LG (2002) Openings of the rat recombinant alpha 1 homomeric glycine receptor as a function of the number of agonist molecules bound. J Gen Physiol 119:443–466
3. Becker K, Breitinger HG, Humeny A et al (2008) The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor. Eur J Hum Genet 16:223–228
4. Bellini G, Miceli F, Mangano S et al (2007) Hyperekplexia caused by dominant-negative suppression of glyra1 function. Neurology 68:1947–1949
5. Bode A, Lynch JW (2014) The impact of human hyperekplexia mutations on glycine receptor structure and function. Mol Brain 7:2
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1. Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes;Pediatric Neurology;2022-07
2. C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia;Medicine;2020-04
3. Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder;Annals of Clinical and Translational Neurology;2019-08-07
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