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Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

✍ Scribed by Shiang, Rita; Ryan, Stephen G.; Zhu, Ya-Zhen; Hahn, Angelika F.; O'Connell, Peter; Wasmuth, John Jacob

Book ID
109918831
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
868 KB
Volume
5
Category
Article
ISSN
1061-4036

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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