Results 51 to 60 of about 3,724 (217)

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

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

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

Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy [PDF]

Molecular Therapy: Nucleic Acids
Mustafa A. Salih
doaj   +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

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   +6 more sources

Long-term follow-up of an individual with vitamin B6-dependent seizures [PDF]

, 1999
We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period.
Hattori, Junri, Ishida, Takashi, Ogino, Tatsuya, Ohtsuka, Yoko, Oka, Eiji   +4 more
core   +4 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   +4 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

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}
Adam, Basura, Baxter, Bennett, Bernhard Schmitt, Cheryl Hemingway, Clayton, Clayton, Cornelis Jakobs, Eduard A. Struys, Emma J. Footitt, Ernst Christensen, François Feillet, Gallagher, Gospe, Goto, Hoffmann, Hunt, Janet Rennie, Kaczorowska, Kanno, Karin Tuschl, Kevin A. Mills, Kim, Kluger, Kurlemann, Lauras, M. Imelda Hughes, Mike G. Pike, Mills, Nabbout, Neil Marlow, Olivier Dulac, Ormazabal, Pascale De Lonlay, Peduto, Perozich, Peter Baxter, Peter T. Clayton, Philippa B. Mills, Plecko, Plecko, Rankin, Rima Nabbout, Salomons, Sameer M. Zuberi, Sarah Aylett, Sophia Varadkar, Striano, Tang, William J. Craigen   +50 more
core   +3 more sources