Article
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013
Ville Dorothée, Ginguene Carole, Marignier Stéphanie, des Portes Vincent, de Bellescize Jullita
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome in neonates. A consensus for the diagnosis of PDE is based on refractive seizures and responsiveness to pyridoxine, however, a growing body of evidence suggests that additional...
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