Article
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2011
Yeghiazaryan Nune S, Striano Pasquale, Spaccini Luigina, Pezzella Marianna, Cassandrini Denise, Zara Federico, Mastrangelo Massimo
Abstract excerpt
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.
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