Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) α...

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Publicado no:J Neurosci
Main Authors: Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G. L., Robinson, Angela, Hantke, Janina, Hammond, Carrie L., Gilbert, Daniel F., Freilinger, Michael, Ryan, Monique, Kruer, Michael C., Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H., Harvey, Robert J., Lynch, Joseph W., Rees, Mark I.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6632444/
https://ncbi.nlm.nih.gov/pubmed/20631190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1763-10.2010
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