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Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy
Neuropediatrics, 2005Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with an intriguing inverse correlation to the oral intake of pyridoxine.
Plecko, B +9 more
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Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations
Epileptic Disorders, 2009ABSTRACTObjectivePyridoxine‐dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE.Materials and methodsEEG tracings from four patients fulfilling the clinical criteria for PDE were reviewed.
Georges, Naasan +3 more
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Roth spots in pyridoxine dependent epilepsy.
BMJ case reports, 2013Pyridoxine dependent epilepsy (PDE) is a rare metabolic defect in the degradation of lysine. The authors report a patient with metabolic and DNA confirmed PDE, on the fifth day of life ophthalmoscopy showed bilateral multiple white centred retinal haemorrhages, so called Roth spots. Roth spots are non-specific haemorrhagic signs that occur in a variety
Levinus A, Bok +5 more
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Pyridoxine dependent epilepsy and antiquitin deficiency
Molecular Genetics and Metabolism, 2011Sylvia Stockler +13 more
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Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy
Nature Reviews Neurology, 2019Annamaria Vezzani +2 more
exaly
Pyridoxine-dependent epilepsy: case report
Neuropediatrics, 2013H Schober +5 more
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