de Rooy RLP Halbertsma FJ Struijs EA van Spronsen FJ Lunsing RJ Schippers HM van Hasselt PM Plecko B Wohlrab G Whalen S Benoist JF Valence S Mills PB Bok LA 2018 AIM In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. METHODS We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI. RESULTS Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients. INTERPRETATION We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage. application/pdf https://sonar.ch/global/documents/47515 eng info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejpn.2018.03.009 info:eu-repo/semantics/altIdentifier/pmid/29661537 info:eu-repo/semantics/openAccess European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - 2018 Late onset Pyridoxine dependent epilepsy Age of Onset Aldehyde Dehydrogenase Epilepsy Female Genotype Humans Infant Intellectual Disability Intelligence Magnetic Resonance Imaging Male Mutation Pyridoxine Retrospective Studies Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? http://purl.org/coar/resource_type/c_6501