Reduced GABA synthesis in pyridoxine-dependent seizures.

Journal Article

An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesizes gamma-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.

Full Text

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Duke Authors

Gospe Jr., Sidney M.

Cited Authors

Gospe, SM; Olin, KL; Keen, CL

Published Date

May 1994

Published In

Lancet (London, England)

Volume / Issue

343 / 8906

Start / End Page

1133 - 1134

PubMed ID

7910233

Electronic International Standard Serial Number (EISSN)

1474-547X

International Standard Serial Number (ISSN)

0140-6736

Digital Object Identifier (DOI)

10.1016/s0140-6736(94)90236-4

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