Results 31 to 40 of about 3,050,482 (146)

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

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

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

Glutamate in Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 1994
Cerebrospinal fluid levels of glutamate, g-aminobutyric acid, and pyridoxal-5-phosphate examined in a patient with pyridoxine dependency while on and off vitamin B6 treatment are reported from Universitat Munchen, and Universitats-Nervenklinik, Wurzburg,
J Gordon Millichap
doaj   +1 more source

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

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

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

, 2021
Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme
Romano, Catia, Falsaperla, Raffaele, Garozzo, Maria Teresa, Lombardo, Giulia, La Mendola, Flavia Maria Consuelo, Timpanaro Tiziana, Caruso, Daniela, Presti, Santiago, Praticò, Elena R., Zanghì, Antonio, Timpanaro, Tiziana, Tiziana Timpanaro, Raffaele Falsaperla, Catia Romano, Flavia Maria Consuelo La Mendola, Giulia Lombardo, Antonio Zanghì, Santiago Presti, Maria Teresa Garozzo, Elena R. Praticò, Daniela Caruso   +20 more
core   +1 more source

Pyridoxine-dependent epilepsy:Towards newborn screening [PDF]

, 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 ...
Tseng, L.A.
core   +5 more sources

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