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Reduced GABA synthesis in pyridoxine-dependent seizures.

Publication ,  Journal Article
Gospe, SM; Olin, KL; Keen, CL
Published in: Lancet
May 7, 1994

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.

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Published In

Lancet

DOI

ISSN

0140-6736

Publication Date

May 7, 1994

Volume

343

Issue

8906

Start / End Page

1133 / 1134

Location

England

Related Subject Headings

  • gamma-Aminobutyric Acid
  • Seizures
  • Pyridoxine
  • Infusions, Intravenous
  • Infant
  • Humans
  • Genetic Diseases, Inborn
  • General & Internal Medicine
  • Fibroblasts
  • Female
 

Citation

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Gospe, S. M., Olin, K. L., & Keen, C. L. (1994). Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet, 343(8906), 1133–1134. https://doi.org/10.1016/s0140-6736(94)90236-4
Gospe, S. M., K. L. Olin, and C. L. Keen. “Reduced GABA synthesis in pyridoxine-dependent seizures.Lancet 343, no. 8906 (May 7, 1994): 1133–34. https://doi.org/10.1016/s0140-6736(94)90236-4.
Gospe SM, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet. 1994 May 7;343(8906):1133–4.
Gospe, S. M., et al. “Reduced GABA synthesis in pyridoxine-dependent seizures.Lancet, vol. 343, no. 8906, May 1994, pp. 1133–34. Pubmed, doi:10.1016/s0140-6736(94)90236-4.
Gospe SM, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet. 1994 May 7;343(8906):1133–1134.
Journal cover image

Published In

Lancet

DOI

ISSN

0140-6736

Publication Date

May 7, 1994

Volume

343

Issue

8906

Start / End Page

1133 / 1134

Location

England

Related Subject Headings

  • gamma-Aminobutyric Acid
  • Seizures
  • Pyridoxine
  • Infusions, Intravenous
  • Infant
  • Humans
  • Genetic Diseases, Inborn
  • General & Internal Medicine
  • Fibroblasts
  • Female