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SHR Neuro Krebs Kardio Lipid

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.
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Eur J Paediatr Neurol. 2018; 22(4): 662-666.
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Autor/innen der Med Uni Graz:
Plecko Barbara
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Abstract:
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. 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 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. 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. Copyright © 2018 European Paediatric Neurology Society. All rights reserved.
Find related publications in this database (using NLM MeSH Indexing)
Age of Onset -
Aldehyde Dehydrogenase - genetics
Epilepsy - complications
Epilepsy - genetics
Female -
Genotype -
Humans -
Infant -
Intellectual Disability - epidemiology
Intellectual Disability - genetics
Intelligence - genetics
Magnetic Resonance Imaging -
Male -
Mutation -
Pyridoxine - therapeutic use
Retrospective Studies -

Find related publications in this database (Keywords)
Pyridoxine dependent epilepsy
Late onset
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