Results 41 to 50 of about 2,887,246 (174)

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

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

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

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., Mills, P.B., Marlow, N, Baxter, P, Footitt, E.J., Hughes, M Imelda, Aylett, S, De Lonlay, P., Rennie, Janet, Mills, K.A., Sameer M. Zuberi, Mills, K A, Struys, Eduard A, Lonlay, P. de, 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, Zuberi, S.M., Neil Marlow, Peter T. Clayton, M. Imelda Hughes, Jakobs, Cornelis, Pike, M.G., Tuschl, K., Hughes, M.I., Schmitt, B., Baxter, P., Clayton, P T, Sophia Varadkar, Struijs, E.A., Craigen, W J, Footitt, Emma J, Feillet, F., Cheryl Hemingway, Hughes, M I, Craigen, W.J., 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., Clayton, P.T., Jakobs, C., Hemingway, C, Cornelis Jakobs, Craigen, W. J.   +101 more
core   +1 more source

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Background: Pyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy.
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 more
europepmc   +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

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Children, 2023
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani   +5 more
doaj   +1 more source

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy [PDF]

Journal of Inherited Metabolic Disease, 2019
Michael Swanson, Sidney M Gospe, Curtis Coughlin   +2 more
exaly   +2 more sources

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review

Frontiers in Neurology, 2022
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new ...
Greta Amore, Ambra Butera, Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Francesco Calì, Gabriella Di Rosa, Antonio Gennaro Nicotera   +10 more
doaj   +1 more source