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Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

✍ Scribed by Wing-Tat Poon; Kwok-Yin Chan; Kam-Ming Au; Sui-Fan Tong; Yan-Wo Chan; Ching-Wan Lam; Chun-Bong Chow

Book ID: 116347004
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 241 KB
Volume: 364
Category: Article
ISSN: 0009-8981
DOI: 10.1016/j.cca.2005.09.018

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## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the α1 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