title: Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.
abstract: 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 elements should be considered which include biochemical data, genetic screening, and EEG monitoring. We present a case study of a neonate with PDE, who presented with misleading clinical presentation and a novel mutation in the antiquitin (ALDH7A1) gene (A294V), and highlight important aspects in order to consider the definition of diagnosis and management of PDE in the light of more recent data.
authors.affiliation: Pediatric Neurology Department and Center of Reference for Rare Intellectual Disorders, Tuberous Sclerosis and Rare Epileptic Disorders, University Hospitals of Lyon (HCL), Lyon, France. Electronic address: dorothee.ville@chu-lyon.fr.
authors.forename: Dorothée
authors.initials: D
authors.lastname: Ville
authors.forename: Carole
authors.initials: C
authors.lastname: Ginguene
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Marignier
authors.forename: Vincent
authors.initials: V
authors.lastname: des Portes
authors.forename: Jullita
authors.initials: J
authors.lastname: de Bellescize
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011736:Pyridoxine / Q000627:therapeutic use*; D014741:Video Recording; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine
keywords: ALDH7A1; Antiquitin; EEG; Mutation; PDE; Pyridoxine; Seizure