Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures

被引：26

作者：

Battaglioli, G

Rosen, DR

Gospe, SM

Martin, DL

机构：

[1] New York State Dept Hlth, Wadsworth Ctr, Albany, NY 12201 USA

[2] Univ Calif Davis, Dept Neurol, Davis, CA 95616 USA

[3] Univ Calif Davis, Dept Pediat, Davis, CA 95616 USA

来源：

NEUROLOGY | 2000年 / 55卷 / 02期

关键词：

D O I：

10.1212/WNL.55.2.309

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Several aspects of pyridoxine-dependent seizure (PDS) suggest a mutation affecting glutamate decarboxylase (GAD) as a possible cause. To examine the possibility of GAD linkage with PDS, the authors performed genotype analyses of three families using polymorphic markers near the GAD genes (GAD1 and GAD2). In each family, the affected siblings exhibited different genotypes for the GAD2 gene; in two families the GAD1 genotype was disparate. These findings suggest that a mutation of GAD is not directly involved in all cases of PDS.

引用

页码：309 / 311

页数：3

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