Abstract
Introduction: Pyridoxine-dependent epilepsy is a very uncommon type of epilepsy. It is characterized by seizures that are not manageable with conventional anticonvulsive therapy, but respond clinically and electrophysically to pyridoxine therapy. Genetic analysis shows autosomal recessive mutations in ALDH7A1 gene. Enzymatic loss of α-aminoadipate-semialdehyde-dehydrogenase activity results in an accumulation of piperidine-6-carboxylate, which reacts with pyridoxal phosphate to a biologically inactive form. Subsequently, pyridoxal phosphate is no longer available for the metabolism of neurotransmitters.
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