The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy [PDF]
Frontiers in Pediatrics, 2019 Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang +13 more
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Feasibility of newborn screening for pyridoxine-dependent epilepsy. [PDF]
Mol Genet MetabPyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to
Pauly K +9 more
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West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature [PDF]
Frontiers in Pediatrics, 2021 Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i ...
Marc Gibaud +16 more
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Epilepsy and hydrocephalus: Should pyridoxine-dependent epilepsy cross our minds?
Annals of Indian Academy of Neurology, 2020 Shivan Kesavan +4 more
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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. [PDF]
Genetics, 2017 AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Pena IA +16 more
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Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research [PDF]
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
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Neonatal Hypoglycemia, Lactic Acidosis, and Pyridoxine-Dependent Epilepsy [PDF]
Pediatric Neurology Briefs, 2012 Researchers at the University of Toronto, Canada report the case of a 13-month-old girl with neonatal hypoglycemia, lactic acidosis, and bilateral symmetrical temporal lobe hemorrhages and thalamic changes on cranial MRI.
J Gordon Millichap
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Pediatric Neurology Briefs, 1992 Four children with pyridoxine dependent seizures beginning at 2 to 19 months are reported from the Loyola University Medical Center, Maywood, IL.
J Gordon Millichap
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Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse [PDF]
Frontiers in Pediatrics, 2022 Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration.
Giulia Aquilano +9 more
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Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy [PDF]
Molecular Therapy: Nucleic AcidsMustafa A. Salih
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