Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation
Copyright policy )Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation
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.
- Erebouni Medical Center Armenia
- University of Genoa Italy
- Goa University India
Male, Epilepsy, Adolescent, Siblings, Pyridoxine, Electroencephalography, Aldehyde Dehydrogenase, Corpus Callosum, Diffusion Magnetic Resonance Imaging, Mutation, Vitamin B Complex, Humans, Female, Longitudinal Studies, Genetic Association Studies
Male, Epilepsy, Adolescent, Siblings, Pyridoxine, Electroencephalography, Aldehyde Dehydrogenase, Corpus Callosum, Diffusion Magnetic Resonance Imaging, Mutation, Vitamin B Complex, Humans, Female, Longitudinal Studies, Genetic Association Studies
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).20 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!