Results 61 to 70 of about 43,493 (297)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model. [PDF]

PLoS ONE, 2013
BACKGROUND: Vitamin B6 is present in various forms (vitamers) in the diet that need to be metabolized to pyridoxal phosphate (PLP), the active cofactor form of vitamin B6.
Monique Albersen, Marjolein Bosma, Nine V V A M Knoers, Berna H B de Ruiter, Eugène F Diekman, Jessica de Ruijter, Wouter F Visser, Tom J de Koning, Nanda M Verhoeven-Duif   +8 more
doaj   +1 more source

Identification of atropine-and P2X1 receptor antagonist-reistant, neurogenic contractions of the urinary bladder

, 2007
Acetylcholine and ATP are excitatory cotransmitters in parasympathetic nerves. We used P2X1 receptor antagonists to further characterize the purinergic component of neurotransmission in isolated detrusor muscle of guinea pig urinary bladder.
Gallagher, G., Tasker, Paul N., Kennedy, C., Kennedy, Charles, Westfall, T., Westfall, Timothy D., Tasker, P., Gallagher, Gemma   +7 more
core   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Supramolecular Tandem Assay for Pyridoxal‐5′‐phosphate by the Reporter Pair of Guanidinocalix[5]Arene and Fluorescein

ChemistryOpen, 2019
Guanidinocalix[5]arene and fluorescein reporter pair has been chosen to set up a supramolecular tandem assay principle based on the differential recognition of pyridoxal‐5′‐phosphate (the substrate of alkaline phosphatase, ALP), pyridoxal (the product of
Yu‐Xin Yue, Yong Kong, Fan Yang, Zhe Zheng, Xin‐Yue Hu, Dong‐Sheng Guo   +5 more
doaj   +1 more source

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

Epilepsy & Behavior Reports, 2020
A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication.
Smilu Mohanlal, Parayil Sankaran Bindu, Sachin Sureshbabu, Suresh Kumar   +3 more
doaj   +1 more source

PYRIDOXAL-5'-PHOSPHATE INHIBITION OF PLATELET FUNCTION.

, 1979
PYRIDOXAL-5'-PHOSPHATE INHIBITION OF PLATELET ...
ELIZABETH HARRIET. KORNECKI (7959149)
core  

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Biomedical aspects of pyridoxal 5’-phosphate availability

, 2012
The biologically active form of vitamin B6, pyridoxal 5'-phosphate (PLP), is a cofactor in over 160 enzyme activities involved in a number of metabolic pathways, including neurotransmitter synthesis and degradation.
CONTESTABILE, Roberto, SAFO MK, DI SALVO, Martino Luigi   +2 more
core   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source