Results 41 to 50 of about 3,050,532 (174)

Pyridoxine-dependent epilepsy

, 2022
The aim of this thesis is to provide and discuss evidence that enables informed decision making on inclusion of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in newborn screening programs.PDE-ALDH7A1 is a neurometabolic disorder of lysine catabolism, characterized by (neonatal) seizures.
Saadet Mercimek-Andrews, Cecil D. Hahn
openaire   +4 more sources

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

Frontiers in Genetics, 2022
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao, Pan Gong, Yue Niu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

Communications Biology, 2022
Combined metabolomics, NMR, and, IRIS identify biomarkers of hyperprolinemia type II (HPII) distinct from HPI and similar metabolic signatures as in patients with pyridoxine-dependent epilepsy.
Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje   +13 more
doaj   +1 more source

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? [PDF]

European Journal of Paediatric Neurology, 2018
In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.We retrospectively analyzed data from four metabolically and genetically ...
de Rooy, RLP, Halbertsma, FJ, Struijs, EA, van Spronsen, FJ, Lunsing, RJ, Schippers, HM, van Hasselt, PM, Plecko, B, Wohlrab, G, Whalen, S, Benoist, JF, Valence, S, Mills, PB, Bok, LA   +13 more
openaire   +5 more sources

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 1999
AIMS To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis. METHODS A retrospective study was made of all the clinical records and ...
R, Nabbout, C, Soufflet, P, Plouin, O, Dulac   +3 more
openaire   +2 more sources

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Frontiers in Pediatrics, 2021
Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i ...
Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve, Manuel Schiff, Hélène Maurey, Marie-Anne Barthez, Isabelle Caubel, Mondher Chouchane, Diane Doummar, Manoëlle Kossorotoff, Marie-Dominique Lamblin, Agathe Roubertie, Rima Nabbout, Patrick Van Bogaert, Patrick Van Bogaert   +16 more
doaj   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2010
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Hemingway, Cheryl, François Feillet, Pascale De Lonlay, Sarah Aylett, Struys, E A, Dulac, Olivier, Schmitt, Bernhard, Bernhard Schmitt, Jakobs, C, Rennie, J, Marlow, N., Hughes, M. I., De Lonlay, Pascale, Pike, M G, Mills, P B, Dulac, O, Feillet, François, Zuberi, S. M., Eduard A. Struys, Mills, Kevin A, William J. Craigen, Christensen, Ernst, Schmitt, B, De Lonlay, P, Footitt, E. J., Janet Rennie, Christensen, E., Emma J. Footitt, Tuschl, Karin, Struys, E. A., Hemingway, C., Marlow, N, Baxter, P, Hughes, M Imelda, Aylett, S, De Lonlay, P., Rennie, Janet, Sameer M. Zuberi, Mills, K A, Struys, Eduard A, Tuschl, K, Varadkar, S, Rima Nabbout, Karin Tuschl, Aylett, Sarah, Clayton, P. T., Varadkar, Sophia, Philippa B. Mills, Footitt, E J, Zuberi, S M, Ernst Christensen, Aylett, S., Peter Baxter, Clayton, Peter T, Neil Marlow, Peter T. Clayton, M. Imelda Hughes, Jakobs, Cornelis, Tuschl, K., Schmitt, B., Baxter, P., Clayton, P T, Sophia Varadkar, Craigen, W J, Footitt, Emma J, Feillet, F., Cheryl Hemingway, Hughes, M I, Dulac, O., Nabbout, Rima, Pike, M. G., Mike G. Pike, Feillet, F, Pike, Mike G, Rennie, J., Mills, P. B., Christensen, E, Marlow, Neil, Kevin A. Mills, Olivier Dulac, Zuberi, Sameer M, Craigen, William J, Nabbout, R, Mills, K. A., Varadkar, S., Baxter, Peter, Mills, Philippa B, Nabbout, R., Jakobs, C., Hemingway, C, Cornelis Jakobs, Craigen, W. J.   +91 more
core   +1 more source

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum [PDF]

Pediatric Neurology, 2016
Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6 ...
Clara D M, van Karnebeek, Sylvia A, Tiebout, Jikkemien, Niermeijer, Bwee Tien, Poll-The, Aisha, Ghani, Curtis R, Coughlin, Johan L K, Van Hove, Jost Wigand, Richter, Hans Juergen, Christen, Renata, Gallagher, Hans, Hartmann, Sylvia, Stockler-Ipsiroglu   +11 more
openaire   +2 more sources

Pyridoxine Dependent Epilepsy with Iatrogenic Sensory Neuronopathy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1995
ABSTRACT:An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures. Within two years of onset of treatment, he developed a sensory neuropathy which did not progress over the following 16 years.
R S, McLachlan, W F, Brown
openaire   +2 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations. [PDF]

Oxf Med Case Reports, 2020
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Dowa Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M.   +5 more
europepmc   +4 more sources