Pyridoxine-dependent seizures: findings from recent studies pose new questions

Abstract

Pyridoxine-dependent seizures, although a rare clinical entity, have been recognized as an etiology of intractable seizures in neonates and infants for more than 45 years. Recent research has focused on the molecular and neurochemical aspects of this disorder, as well as the optimal treatment of the condition. This review discusses the clinical features and management of patients with pyridoxine-dependent seizures together with a new hypothesis suggesting that an abnormality of pyridoxine transport may underlie the pathophysiology of this autosomal-recessive disorder.