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  1. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu...

  2. Dutch cohort with alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine...

  3. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

  4. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)

    Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients. alpha-AASA dehydrogenase deficiency is an autosomal recessive disorder

  5. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

    Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic

  6. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy...

    Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy

  7. Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

    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

  8. Genotype-phenotype correlates of infantile-onset developmental & epileptic...

    © 2020 Elsevier B.V. Introduction: A paucity of literature exists on genotype- phenotype correlates of ‘unknown-etiology’ infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield

  9. Pyridoxine responsiveness in novel mutations of the PNPO gene.

    OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations. METHODS: We sequenced the PNPO gene in 31 patients who

  10. The effectiveness of correcting abnormal metabolic profiles

    Inborn errors of metabolism cause disease because of accumulation of a metabolite before the blocked step or deficiency of an essential metabolite downstream of the block. Treatments can be directed at reducing the levels of a toxic metabolite or

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