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

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 α1 subunit gene (GLRA1) are the major cause of this disorder, since remarkably few...

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Bibliographic Details
Main Authors: Victoria M. James, Anna Bode, Seo-Kyung Chung, Jennifer L. Gill, Maartje Nielsen, Frances M. Cowan, Mihailo Vujic, Rhys H. Thomas, Mark I. Rees, Kirsten Harvey, Angelo Keramidas, Maya Topf, Ieke Ginjaar, Joseph W. Lynch, Robert J. Harvey
Format: Article
Language:English
Published: Elsevier 2013-04-01
Series:Neurobiology of Disease
Subjects:
GLRA1
GLRB
Glycine receptor
Hyperekplexia
Startle disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112003841

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http://www.sciencedirect.com/science/article/pii/S0969996112003841

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