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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....
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3895786/ https://ncbi.nlm.nih.gov/pubmed/24405574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-6606-7-2 |
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