Results 21 to 30 of about 1,661 (121)

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

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

Pediatric Neurology Briefs, 1992
Four children with pyridoxine dependent seizures beginning at 2 to 19 months are reported from the Loyola University Medical Center, Maywood, IL.
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

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

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 Deficiency and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2010
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj   +1 more source

Pyridoxine-Dependent Epilepsy and Pipecolic Acid

Pediatric Neurology Briefs, 2000
Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria.
J Gordon Millichap
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

Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2013
Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
doaj   +1 more source