Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Battaglioli, G; Rosen, DR; Gospe, SM; Martin, DL

Published Date

  • July 25, 2000

Published In

Volume / Issue

  • 55 / 2

Start / End Page

  • 309 - 311

PubMed ID

  • 10908915

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.55.2.309


  • eng

Conference Location

  • United States