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

页码：1643 / 1645

页数：3

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