A novel GLRA1 mutation in a recessive hyperekplexia pedigree

被引：11
|
作者：
Forsyth, Rob J. [1 ]
Gika, Artemis D.
Ginjaar, Leke
Tijssen, Marina A. J.
机构：
[1] Univ Newcastle Upon Tyne, Sir James Spence Inst, Royal Victoria Infirm, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England
[2] Univ London St Georges Hosp, Paediat Neurol Dept, London SW17 0QT, England
[3] Leiden Univ, Ctr Med, Ctr Human & Clin Genet, NL-2300 RC Leiden, Netherlands
[4] Univ Amsterdam, Acad Med Ctr, Dept Neurol H2 237, NL-1100 DD Amsterdam, Netherlands
来源：
MOVEMENT DISORDERS | 2007年 / 22卷 / 11期
关键词：
hyperekplexia; glycine receptor; GLRA1;
D O I：
10.1002/mds.21574
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report the identification of a novel Y228C mutation within the Ml trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. (c) 2007 Movement Disorder Society.
引用
收藏
页码：1643 / 1645
页数：3
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