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Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene

✍ Scribed by Chan, K. K.; Cherk, S. W.-w.; Lee, H. H.-c.; Poon, W. T.; Chan, A. Y.-w.

Book ID
124049939
Publisher
SAGE Publications
Year
2012
Tongue
English
Weight
112 KB
Volume
29
Category
Article
ISSN
0883-0738

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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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## 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