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.

► In this study we report two siblings with pyridoxine dependent epilepsy.
► In our patients, we identified a novel pathogenic ALDH7A1 mutation likely resulting in erroneous splicing and aberrant alpha aminoadipic semialdehyde dehydrogenase.
► Long-term follow-up is reported for both siblings.
► Despite adequate and early pyridoxine administration and seizure control, both patients show moderate to severe mental retardation.