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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Bibliografski detalji
Izdano u:J Neurosci
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Society for Neuroscience 2010
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Articles
Online pristup: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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