Results 51 to 60 of about 6,810 (200)

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

, 2005
Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with ...
Plecko, B;Hikel, C;Korenke, GC;Schmitt, B;Baumgartner, M;Baumeister, F;Jakobs, C;Struys, E;Erwa, W;Stöckler-Ipsiroglu, S
core   +1 more source

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Beta-Glucosidase Catalyzed Syntheses of Pyridoxine Glycosides.

, 2009
Enzymatic syntheses of pyridoxine glycosides were carried out in di-isopropyl ether organic medium using beta-glucosidase isolated from sweet almond.
Charles, Rajachristu Einstein, Divakar, S.   +1 more
core   +1 more source

Dietary Pyridoxine Requirements of Coho Salmon (Oncorhynchus kisutch) Post-Smolts

Aquaculture Nutrition
A 10-week feeding trial was conducted to investigate the dietary pyridoxine requirements of coho salmon (Oncorhynchus kisutch) post-smolts with an initial mean body weight of 180.22 ± 0.41 g. Seven diets were prepared with gradient pyridoxine levels of 0.
Hairui Yu, Xinyue Zhang, Ziyi Yuan, Leyong Yu, Youzhi Zhao, Lingyao Li   +5 more
doaj   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

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

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

Effect of the Ascorbic Acid, Pyridoxine and Hydrogen Peroxide Treatments on Germination, Catalase Activity, Protein and Malondialdehyde Content of Three Oil Seeds

Notulae Botanicae Horti Agrobotanici Cluj-Napoca, 2008
Oil seed production has an important role in human nutrition and industry. Success in oil plant cultivation is related to seed production with high viability and rapid germination, because these seeds rapidly loose their viability by fats oxidation. Thus,
Aria DOLATABADIAN, Seyed Ali Mohammad MODARRES SANAVY   +1 more
doaj   +1 more source

EFFECT OF IN-OVO INJECTION OF PYRIDOXINE ON HATCHABILITY AND PHYSIOLOGICAL RESPONSE OF HATCHED TURKEY POULTS [PDF]

Egyptian Poultry Science, 2018
A total number of 720 turkey hatching eggs with an average weight of 81± 1g were used to study the effect of injecting the eggs with pyridoxine (vitamin B6) at 10th, 17th and 24th days of incubation.
amal hekal
doaj   +1 more source