Article
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Human mutation - 1 Jan 2007
Plecko Barbara, Paul Karl, Paschke Eduard, Stoeckler-Ipsiroglu Sylvia, Struys Eduard, Jakobs Cornelis, Hartmann Hans, Luecke Thomas, di Capua Matteo, Korenke Christoph, Hikel Christiane, Reutershahn Elke, Freilinger Michael, Baumeister Fritz, Bosch Friedrich, Erwa Wolfgang
Abstract excerpt
Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE. Recently, PDE has been shown to be caused by a defect of alpha-amino adipic semialdehyde (AASA)...
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