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.
Duke Scholars
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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
APA
Chicago
ICMJE
MLA
NLM
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.
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