Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR α(1) subunit gene (GLRA1) are the major cause of this disorder, since remarkably f...

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Detalhes bibliográficos
Main Authors: James, Victoria M., Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L., Nielsen, Maartje, Cowan, Frances M., Vujic, Mihailo, Thomas, Rhys H., Rees, Mark I., Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W., Harvey, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581774/
https://ncbi.nlm.nih.gov/pubmed/23238346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2012.12.001
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