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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....
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895786/ https://www.ncbi.nlm.nih.gov/pubmed/24405574 http://dx.doi.org/10.1186/1756-6606-7-2 |