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Novel Mutations in Pyridoxine-Dependent Epilepsy
European Journal of Paediatric Neurology, 2011 Pyridoxine-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 ...
Sophie Hamelin +2 more
exaly +8 more sources
Timing of Therapy and Neurodevelopmental Outcomes in 18 Families With Pyridoxine-Dependent Epilepsy [PDF]
Molecular Genetics and Metabolism, 2022 BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment.
Sidney M Gospe +2 more
exaly +2 more sources
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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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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
exaly +3 more sources
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
openaire +1 more source
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
openaire +1 more source
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
openaire +1 more source