Results 31 to 40 of about 271 (90)

Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children

Frontiers in Neurology
AimEvaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures.MethodsThe study included all children with pyridoxine-responsive seizures treated in our hospital from ...
Ružica Kravljanac, Biljana Vučetić Tadić, Vladimir Oparnica   +2 more
doaj   +2 more sources

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Brain, 2019
Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood.
Pena Ia, Wyeth Wasserman, Khalid Al-Thihli   +2 more
exaly   +2 more sources

Embracing the future: Neonatal screening for epileptic syndromes. [PDF]

Epilepsia
Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Nabbout R, Kuchenbuch M.
europepmc   +2 more sources

Genomic variants association with selective hypersensitivity reactions to amoxicillin and clavulanic acid. [PDF]

Allergy
Allergy, Volume 80, Issue 2, Page 578-581, February 2025.
Nuñez R, Fernandez-Santamaria R, Salas M, Bogas G, Diez-Echave P, Mayorga C, Torres MJ, Fernandez TD.   +7 more
europepmc   +2 more sources

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, Volume 8, Issue 4, Page 1383-1404, December 2023., 2023
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 more
wiley   +1 more source

Protein–Protein Interfaces as Druggable Targets: A Common Motif of the Pyridoxal-5′-Phosphate-Dependent Enzymes to Receive the Coenzyme from Its Producers

Biochemistry (Moscow), 2023
Pyridoxal-5′-phosphate (PLP), a phosphorylated form of vitamin B6, acts as a coenzyme for numerous reactions, including those changed in cancer and/or associated with the disease prognosis.
V. Aleshin, V. Bunik
semanticscholar   +2 more sources

B vitamin supply in plants and humans: the importance of vitamer homeostasis

The Plant Journal, Volume 111, Issue 3, Page 662-682, August 2022., 2022
SUMMARY B vitamins are a group of water‐soluble micronutrients that are required in all life forms. With the lack of biosynthetic pathways, humans depend on dietary uptake of these compounds, either directly or indirectly, from plant sources. B vitamins are frequently given little consideration beyond their role as enzyme accessory factors and are ...
Zeguang Liu, Peter Farkas, Kai Wang, Morgan‐Océane Kohli, Teresa B. Fitzpatrick   +4 more
wiley   +1 more source

Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer

Journal of Cellular and Molecular Medicine, Volume 26, Issue 14, Page 4007-4020, July 2022., 2022
Abstract The discovery of early diagnosis and prognostic markers for breast cancer can significantly improve survival and reduce mortality. LSM1 is known to be involved in the general process of mRNA degradation in complexes containing LSm subunits, but the molecular and biological functions in breast cancer remain unclear. Here, the expression of LSM1
Yen‐Dun Tony Tzeng, Kuan‐Hao Tsui, Ling‐Ming Tseng, Ming‐Feng Hou, Pei‐Yi Chu, Jim Jinn‐Chyuan Sheu, Chia‐Jung Li   +6 more
wiley   +1 more source

Brain transcriptome analysis reveals gene expression differences associated with dispersal behaviour between range‐front and range‐core populations of invasive cane toads in Australia

Molecular Ecology, Volume 31, Issue 6, Page 1700-1715, March 2022., 2022
Abstract Understanding the mechanisms allowing invasive species to adapt to novel environments is a challenge in invasion biology. Many invaders demonstrate rapid evolution of behavioural traits involved in range expansion such as locomotor activity, exploration and risk‐taking.
Boris Yagound, Andrea J. West, Mark F. Richardson, Daniel Selechnik, Richard Shine, Lee A. Rollins   +5 more
wiley   +1 more source

Child Neurology: Late-Onset Vitamin B6–Dependent Epilepsy Identified by Rapid Genome Sequencing

Neurology, 2021
Hundreds of distinct epilepsy-causing genes have been identified.1 The vitamin B6-dependent epilepsies are a heterogeneous group of genetic disorders due to incomplete formation, transport, or inactivation of pyridoxal 5′-phosphate (PLP).2 The ALDH7A1 ...
A. Espinoza, Melissa A. Wright, Meghan S. Candee, Cristina C. Trandafir, Gary R Nelson   +4 more
semanticscholar   +1 more source