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Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

✍ Scribed by M. N. Vergouwe; M. A. J. Tijssen; A. C. B. Peters; R. Wielaard; R. R. Frants

Book ID
101393558
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
442 KB
Volume
46
Category
Article
ISSN
0364-5134

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Recessive hyperekplexia due to a new mut
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## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the Ξ±1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, t

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Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
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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