title: Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
abstract: Pyridoxine-dependent seizures (PDS) is a rare disorder characterized by seizures resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine. Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients. We report the long-term follow-up in two PDS siblings carrying a novel ALDH7A1 mutation.
authors: Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G. Gaslini, University of Genova, Genova, Italy. ynune@yahoo.com
authors: Nune S
authors: NS
authors: Yeghiazaryan
authors: Pasquale
authors: P
authors: Striano
authors: Luigina
authors: L
authors: Spaccini
authors: Marianna
authors: M
authors: Pezzella
authors: Denise
authors: D
authors: Cassandrini
authors: Federico
authors: F
authors: Zara
authors: Massimo
authors: M
authors: Mastrangelo
mesh_terms: D000293:Adolescent; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D011736:Pyridoxine / Q000627:therapeutic use*; D035781:Siblings; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine