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The Glycinergic System in Human Startle Disease: A Genetic Screening Approach
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic stimuli which first presents as neonatal hype...
Autores principales: | Davies, Jeff S., Chung, Seo-Kyung, Thomas, Rhys H., Robinson, Angela, Hammond, Carrie L., Mullins, Jonathan G. L., Carta, Eloisa, Pearce, Brian R., Harvey, Kirsten, Harvey, Robert J., Rees, Mark I. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Frontiers Research Foundation
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854534/ https://www.ncbi.nlm.nih.gov/pubmed/20407582 http://dx.doi.org/10.3389/fnmol.2010.00008 |
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