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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

✍ Scribed by Gilbert, Sandra L. ;Ozdag, Fatih ;Ulas, Umit H. ;Dobyns, William B. ;Lahn, Bruce T.

Book ID
127119562
Publisher
Adis International Limited (now part of Wolters Kluwer Health)
Year
2004
Tongue
English
Weight
149 KB
Volume
8
Category
Article
ISSN
1532-8619

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✍ Marina A.J. Tijssen; Peter Brown; David MacManus; Mary A. McLean; Charles Davie πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 87 KB

## 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