Results 171 to 180 of about 3,547 (200)
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2011
This chapter focuses on disorders due to mitochondrial respiratory chain (MRC) dysfunction and use the collective term mitochondrial cytopathy. It discusses two mtDNA disorders, myoclonus epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Epilepsy occurs primarily in the
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This chapter focuses on disorders due to mitochondrial respiratory chain (MRC) dysfunction and use the collective term mitochondrial cytopathy. It discusses two mtDNA disorders, myoclonus epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Epilepsy occurs primarily in the
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Pyridoxine‐dependent epilepsy is more than just epilepsy
Developmental Medicine & Child Neurology, 2019This commentary is on the original article by Jiao et al. on pages 315–321 of this issue.
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Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations
Epileptic Disorders, 2009ABSTRACT Objective Pyridoxine‐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 methods
Georges, Naasan +3 more
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Current Treatment and Management of Pyridoxine-Dependent Epilepsy
Current Treatment Options in Neurology, 2015Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently,
Clara D M, van Karnebeek +1 more
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2013
A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of non-consanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as
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A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of non-consanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as
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Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine‐dependent epilepsy
American Journal of Medical Genetics Part A, 2012AbstractA cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine‐dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.
Heather C, Mefford +2 more
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Pyridoxine-dependent epilepsy: report on three families with neuropathology
Metabolic Brain Disease, 2016Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities.
Marguet, Florent +10 more
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[Pyridoxine-dependent epilepsy in an infant].
Nederlands tijdschrift voor geneeskunde, 1995A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early.
W M, van Waarde +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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Natural history of pyridoxine‐dependent epilepsy: tools for prognostication
Developmental Medicine & Child Neurology, 2012This commentary is on the original article by Bok et al. on pages 849‐854 of this issue.
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