The impact of human hyperekplexia mutations on glycine receptor structure and function

Bode, Anna and Lynch, Joseph W. (2014) The impact of human hyperekplexia mutations on glycine receptor structure and function. Molecular Brain, 7 2: 1-12. doi:10.1186/1756-6606-7-2

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Author Bode, Anna
Lynch, Joseph W.
Title The impact of human hyperekplexia mutations on glycine receptor structure and function
Journal name Molecular Brain   Check publisher's open access policy
ISSN 1756-6606
Publication date 2014-01-09
Sub-type Article (original research)
DOI 10.1186/1756-6606-7-2
Open Access Status DOI
Volume 7
Issue 2
Start page 1
End page 12
Total pages 12
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
Hyperekplexia is a rare neurological disorder characterized by neonatal hypertonia, exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea, intellectual disability and delays in speech acquisition. The majority of motor defects are successfully treated by clonazepam. Hyperekplexia is caused by hereditary mutations that disrupt the functioning of inhibitory glycinergic synapses in neuromotor pathways of the spinal cord and brainstem. The human glycine receptor α1 and β subunits, which predominate at these synapses, are the major targets of mutations. International genetic screening programs, that together have analysed several hundred probands, have recently generated a clear picture of genotype-phenotype correlations and the prevalence of different categories of hyperekplexia mutations. Focusing largely on this new information, this review seeks to summarise the effects of mutations on glycine receptor structure and function and how these functional alterations lead to hyperekplexia.
Keyword Cys-loop receptor
Ligand-gated ion channel
Chloride channel
Startle disease
Glycinergic neurotransmission
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2015 Collection
School of Biomedical Sciences Publications
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Citation counts: TR Web of Science Citation Count  Cited 30 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 32 times in Scopus Article | Citations
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Created: Fri, 17 Jan 2014, 00:48:18 EST by Debra McMurtrie on behalf of Queensland Brain Institute