Title |
The impact of human hyperekplexia mutations on glycine receptor structure and function
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Published in |
Molecular Brain, January 2014
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DOI | 10.1186/1756-6606-7-2 |
Pubmed ID | |
Authors |
Anna Bode, Joseph W Lynch |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Chile | 1 | <1% |
Sweden | 1 | <1% |
Bangladesh | 1 | <1% |
Unknown | 106 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 21 | 19% |
Student > Ph. D. Student | 20 | 18% |
Student > Master | 12 | 11% |
Researcher | 11 | 10% |
Student > Doctoral Student | 7 | 6% |
Other | 20 | 18% |
Unknown | 18 | 17% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 21 | 19% |
Biochemistry, Genetics and Molecular Biology | 15 | 14% |
Neuroscience | 15 | 14% |
Pharmacology, Toxicology and Pharmaceutical Science | 4 | 4% |
Other | 10 | 9% |
Unknown | 19 | 17% |