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

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....

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Published in:Molecular brain 2014-01, Vol.7 (1), p.2-2
Main Authors: Bode, Anna, Lynch, Joseph W
Format: Article
Language:English
Subjects:
Apnea
Colleges & universities
Genes
Humans
Ion Channel Gating
Ligands
Mutation
Mutation - genetics
Protein Subunits - chemistry
Protein Subunits - genetics
Protein Subunits - metabolism
Proteins
Receptors, Glycine - chemistry
Receptors, Glycine - genetics
Receptors, Glycine - metabolism
Review
Scholarships & fellowships
Stiff-Person Syndrome - genetics
Stiff-Person Syndrome - physiopathology
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creator Bode, Anna
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description 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.
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subjects Apnea
Colleges & universities
Genes
Humans
Ion Channel Gating
Ligands
Mutation
Mutation - genetics
Protein Subunits - chemistry
Protein Subunits - genetics
Protein Subunits - metabolism
Proteins
Receptors, Glycine - chemistry
Receptors, Glycine - genetics
Receptors, Glycine - metabolism
Review
Scholarships & fellowships
Stiff-Person Syndrome - genetics
Stiff-Person Syndrome - physiopathology
title The impact of human hyperekplexia mutations on glycine receptor structure and function
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