Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

Abstract

Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.

Keywords

• pyridoxine-dependent epilepsy
• mri abnormalities
• molybdenum cofactor deficiency