Results 131 to 140 of about 1,906 (168)
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Novel mutations in pyridoxine-dependent epilepsy
European Journal of Paediatric Neurology, 2011Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.We describe PDE in a ...
Millet, Arnaud +7 more
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Gene sleuthing in pyridoxine-dependent epilepsy
Neurology, 2015Epilepsies caused by inborn errors of metabolism consist of a broad range of diseases, typically with early life onset and often associated with progressive encephalopathy. Early recognition and targeted therapy are key to improved outcomes in several metabolic epilepsies, including those related to the pyridoxal vitamer dependencies.
Weckhuysen, Sarah, Pearl, Phillip L.
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Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report
Pediatric Neurology, 2023Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is a wide spectrum of clinical manifestations, and in the absence of biochemical markers, clinical diagnosis is often delayed.
Avantika Chauhan +2 more
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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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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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