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-t...

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Bibliographic Details
Published in:European journal of paediatric neurology 2011-11, Vol.15 (6), p.547-550
Main Authors: Yeghiazaryan, Nune S, Striano, Pasquale, Spaccini, Luigina, Pezzella, Marianna, Cassandrini, Denise, Zara, Federico, Mastrangelo, Massimo
Format: Article
Language:English
Subjects:
Adolescent
Aldehyde Dehydrogenase - genetics
ALDH7A1
Corpus Callosum - pathology
Diffusion Magnetic Resonance Imaging
Electroencephalography
Epilepsy - drug therapy
Epilepsy - genetics
Female
Genetic Association Studies
Humans
Longitudinal Studies
Male
Mutation - genetics
Neonatal seizures
Neurology
Pediatrics
Pyridoxine - therapeutic use
Pyridoxine-dependent seizures
Siblings
Vitamin B Complex - therapeutic use
Vitamin B6
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Summary: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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2011.05.011