Results 41 to 50 of about 3,724 (217)

Metabolite Identification Using Infrared Ion Spectroscopy – Novel Biomarkers for Pyridoxine-Dependent Epilepsy [PDF]

Anal Chem, 2021
Rianne E. van Outersterp, Udo F. H. Engelke, Jona Merx, Giel Berden, Mathias Paul, Thomas Thomulka, Albrecht Berkessel, Marleen C.D.G. Huigen, Leo A. J. Kluijtmans, Jasmin Mecinović, Floris P. J. T. Rutjes, Clara D.M. van Karnebeek, Ron A. Wevers, Thomas J. Boltje, Karlien L. M. Coene, Jonathan Martens, Jos Oomens   +16 more
europepmc   +3 more sources

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 [PDF]

The American Journal of Human Genetics, 2000
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the binding of pyridoxal 5-phosphate to glutamic acid decarboxylase (GAD) has been postulated in patients ...
Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier   +8 more
openaire   +3 more sources

Pyridoxine Dependent Epilepsy: Enduring Mystery and Continuing Challenges [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Prasad, Asuri, Prasad, Chitra
openaire   +4 more sources

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy [PDF]

Neurology, 2023
Olivier Fortin, Kelsey Christoffel, Youssef A. Kousa, Ilana Miller, Eyby Leon, Kelsey Donoho, Sarah B. Mulkey, Tayyba Anwar   +7 more
openalex   +2 more sources

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse [PDF]

Brain Commun
Clara D.M. van Karnebeek, Valérie Gailus‐Durner, Udo F. H. Engelke, Claudia Seisenberger, Susan Marschall, Nathalia Romanelli Vicente Dragano, Patricia da Silva‐Buttkus, Stefanie Leuchtenberger, Helmut Fuchs, Martin Hrabé de Angelis, Ron A. Wevers, Curtis R. Coughlin, Dirk J. Lefeber   +12 more
openalex   +2 more sources

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency [PDF]

Int J Mol Sci, 2022
Hans-Otto Böhm, Mazyar Yazdani, Elise Mørk Sandås, Anja Østeby Vassli, Erle Kristensen, Helge Rootwelt, Hanne Bendiksen Skogvold, Eylert Brodtkorb, Katja Benedikte Prestø Elgstøen   +8 more
openalex   +2 more sources

Is Vitamin B6 a Precision Therapy for Neonatal Seizures? [PDF]

Neurology International
Background: Neonatal seizures are critical neurological events with long-term implications for brain development. Standard antiseizure medications, such as phenobarbital, often yield suboptimal seizure control and may be associated with neurotoxicity ...
Raffaele Falsaperla, Vincenzo Sortino, Bruna Scalia, Marco Andrea Nicola Saporito   +3 more
doaj   +2 more sources

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow [PDF]

Int J Neonatal Screen
Mylène Donge, Sandrine Marie, A Pochet, Lionel Marcélis, Géraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen‐Khoa, D. Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I. Jonckheere, Manuel Schiff, Marie‐Cécile Nassogne, Joseph P. Dewulf   +20 more
openalex   +2 more sources

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

Epilepsy & Behavior Reports, 2022
Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of
Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata   +8 more
doaj   +1 more source

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency [PDF]

Hum Mol Genet, 2020
Hilal H. Al-Shekaili, Terri L. Petkau, Izabella A. Pena, Tess C. Lengyell, Nanda M. Verhoeven‐Duif, Jolita Čiapaitė, Marjolein Bosma, Martijn van Faassen, Ido P. Kema, Gabriella Horváth, Colin J.D. Ross, Elizabeth M. Simpson, Jan M. Friedman, Clara van Karnebeek, Blair R. Leavitt   +14 more
openalex   +2 more sources