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References

These sources were used to develop the Genetics Home Reference gene summary on the GLRA1 gene.

Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes. Lancet Neurol. 2006 Jun;5(6):513-24. Review. PubMed citation
Entrez Gene
Gene Review: Hyperekplexia
Harvey RJ, Topf M, Harvey K, Rees MI. The genetics of hyperekplexia: more than startle! Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Review. PubMed citation
Lapunzina P, Sánchez JM, Cabrera M, Moreno A, Delicado A, de Torres ML, Mori AM, Quero J, Lopez Pajares I. Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. Mol Diagn. 2003;7(2):125-8. PubMed citation
Lynch JW. Molecular structure and function of the glycine receptor chloride channel. Physiol Rev. 2004 Oct;84(4):1051-95. Review. PubMed citation
Meinck HM. Startle and its disorders. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):357-64. Epub 2007 Jan 26. Review. PubMed citation
OMIM: GLYCINE RECEPTOR, ALPHA-1 SUBUNIT
Villmann C, Oertel J, Melzer N, Becker CM. Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. J Neurochem. 2009 Nov;111(3):837-47. doi: 10.1111/j.1471-4159.2009.06372.x. Epub 2009 Sep 1. PubMed citation

Reviewed: April 2010

Published: May 20, 2013