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A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

✍ Scribed by Handford, Cheryl A.; Segura, Lillian; Shiang, Rita; Wasmuth, John J.; Camper, Sally A.; Schofield, Peter; O'Connell, Peter; Ryan, Stephen G.; Buckwalter, Marion S.; Lynch, Joseph W.

Book ID: 109916219
Publisher: Nature Publishing Group
Year: 1994
Tongue: English
Weight: 699 KB
Volume: 7
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0694-131

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## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine r