An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine [PDF]
Case Reports in Genetics, 2022 Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1.
Jiyoung Kim +4 more
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Long‐term outcome in pyridoxine‐dependent epilepsy [PDF]
Developmental Medicine & Child Neurology, 2012 Aim The long‐term outcome of the Dutch pyridoxine‐dependent epilepsy cohort and correlations between patient characteristics and follow‐up data were retrospectively studied.Method Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo–16y ...
Levinus A. Bok +9 more
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Pyridoxine‐dependent epilepsy is more than just epilepsy [PDF]
Developmental Medicine & Child Neurology, 2019 This commentary is on the original article by Jiao et al. on pages 315–321 of this issue.
Curtis R. Coughlin
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ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
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Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy [PDF]
Annals of Neurology, 2013 ObjectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown.
Laura A. Jansen +5 more
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Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]
Neurology, 2023 Fortin O +7 more
europepmc +3 more sources
Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy [PDF]
Pediatric Neurology Briefs, 2013 Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
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High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment [PDF]
MedEdPORTAL, 2018 Introduction Treatment of seizures in the neonatal patient is urgent and time sensitive. Effective and timely treatment of this life-threatening condition is vital in preventing mortality and long-term morbidity. This simulation-based curriculum involves
Jacob Anderson +2 more
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Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. [PDF]
Int J Mol Sci, 2022 Böhm HO +8 more
europepmc +3 more sources
First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]
Vojnosanitetski Pregled, 2017 Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M. +3 more
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