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Hyperekplexia-like syndromes without mutations in the GLRA1 gene

✍ Scribed by M.N. Vergouwe; M.A.J. Tijssen; R. Shiang; J.G. van Dijk; Saad Al Shahwan; R.A. Ophoff; R.R. Frants

Book ID
119532614
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
728 KB
Volume
99
Category
Article
ISSN
0303-8467

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## Abstract Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the Ξ±~1~ subunit of the glycine receptor (GLRA