Results 121 to 130 of about 1,711 (154)
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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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Congenital cataract in a child with pyridoxine-dependent epilepsy
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2013Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against ...
Imran H, Yusuf +2 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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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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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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Adolescent diagnosis of pyridoxine-dependent epilepsy
BMJ Case ReportsPyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic epilepsy classically presenting with refractory neonatal seizures that respond to pharmacological doses of pyridoxine (vitamin B6). Although traditionally regarded as a neonatal disorder, later presentations are increasingly recognised.
Ahmed Aaid Osman +2 more
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