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A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia

✍ Scribed by del Giudice, Emanuele Miraglia; Coppola, Giangennaro; Bellini, Giulia; Cirillo, Grazia; Scuccimarra, Goffredo; Pascotto, Antonio


Book ID
110025204
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
122 KB
Volume
9
Category
Article
ISSN
1018-4813

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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