Results 41 to 50 of about 1,906 (168)

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

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

Natural history of pyridoxine‐dependent epilepsy: tools for prognostication [PDF]

Developmental Medicine & Child Neurology, 2012
This commentary is on the original article by Bok et al. on pages 849‐854 of this issue.
Sídney M. Gospe
openalex   +3 more sources

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. [PDF]

Mol Genet Metab Rep, 2022
Tseng LA, Teela L, Janssen MC, Bok LA, Willemsen MAAP, Neuteboom RF, Haverman L, Gospe SM, Coughlin CR, van Karnebeek CDM.   +9 more
europepmc   +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

Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings [PDF]

Annals of Indian Academy of Neurology, 2021
Sedat Işıkay
doaj   +2 more sources

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons

JIMD Reports
Pyridox(am)ine 5′ Phosphate Oxidase deficiency (PNPO) presents with refractory epilepsy responsive to treatment with pyridoxal 5′ phosphate (PLP) or pyridoxine.
Richard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, Michael Stormon, Gordon Thomas, Albert Shun, David Geoffrey Bowen, Timothy Fielder, Peter Barclay, Youssef Khalil, Philippa Mills, Peter Clayton, Kaustuv Bhattacharya   +12 more
doaj   +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
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P, Leuchtenberger S, Fuchs H, Hrabě de Angelis M, Wevers RA, Coughlin CR, Lefeber DJ.   +12 more
europepmc   +3 more sources

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

Anal Chem, 2021
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J.   +16 more
europepmc   +3 more sources

Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. [PDF]

Exp Ther Med, 2017
Wang S, Sun J, Tu Y, Zhu L, Feng Z.
europepmc   +3 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations. [PDF]

Oxf Med Case Reports, 2020
Dowa Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M.   +5 more
europepmc   +3 more sources