Pyridoxine-Dependent Epilepsy and Pipecolic Acid
Pediatric Neurology Briefs, 2000 Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria.
J Gordon Millichap
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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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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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Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS [PDF]
International Journal of Analytical Chemistry, 2018 Pyridoxine dependent epilepsy is a condition where the affected infant or child has prolonged seizures (status epilepticus), which are nonresponsive to anticonvulsant therapy but can be treated with pharmacological doses of pyridoxine.
Elizabeth Mary Mathew +3 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 ...
Bok, L.A. +12 more
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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum [PDF]
Pediatric Neurology, 2016 Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6 ...
Clara D M, van Karnebeek +11 more
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Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature [PDF]
The Turkish Journal of Pediatrics, 2015 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert +4 more
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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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The psychological impact on parents of children with pyridoxine-dependent epilepsy [PDF]
European Psychiatry, 2023 Introduction Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease usually associated with neonatal seizures that are sensitive to pyridoxine (vitamin B6).
I. Boujelbene +7 more
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A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus [PDF]
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça +3 more
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