title: Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.
abstract: 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.
authors.affiliation: Wadsworth Center, New York State Department of Health, Albany, USA. battagli@wadsworth.org
authors.forename: G
authors.initials: G
authors.lastname: Battaglioli
authors.forename: D R
authors.initials: DR
authors.lastname: Rosen
authors.forename: S M
authors.initials: SM
authors.lastname: Gospe
authors.forename: D L
authors.initials: DL
authors.lastname: Martin
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D005968:Glutamate Decarboxylase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D011736:Pyridoxine / Q000008:administration & dosage*; D013036:Spasms, Infantile / Q000235:genetics*; D026681:Vitamin B 6 Deficiency / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D007527:Isoenzymes; D005968:Glutamate Decarboxylase; D011736:Pyridoxine