Results 31 to 40 of about 1,711 (154)

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

Long‐term outcome in pyridoxine‐dependent epilepsy [PDF]

Developmental Medicine & Child Neurology, 2012
Aim  The long‐term outcome of the Dutch pyridoxine‐dependent epilepsy cohort and correlations between patient characteristics and follow‐up data were retrospectively studied.Method  Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo–16y ...
Bok, L.A., Halbertsma, F.J., Houterman, S., Wevers, R.A., Wevers, R.A., Wevers, R.A., Vreeswijk, C., Jakobs, C., Struys, E., van Hoeven, J.H., Sival, D.A., Willemsen, M.A.A.P., Willemsen, M.A.A.P.   +12 more
openaire   +3 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

Vitamin K as an add-on therapy in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Houten SM.
europepmc   +3 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

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