| Literature DB >> 21733724 |
Nune S Yeghiazaryan1, Pasquale Striano, Luigina Spaccini, Marianna Pezzella, Denise Cassandrini, Federico Zara, Massimo Mastrangelo.
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.Entities:
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Year: 2011 PMID： 21733724 DOI： 10.1016/j.ejpn.2011.05.011
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN： 1090-3798 Impact factor: 3.140