Epilepsia, EarlyView.Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh +3 more
wiley +1 more source
RdgB2 is required for dim-light input into intrinsically photosensitive retinal ganglion cells. [PDF]
, 2015 A subset of retinal ganglion cells is intrinsically photosensitive (ipRGCs) and contributes directly to the pupillary light reflex and circadian photoentrainment under bright-light conditions.
Berson, David M +8 more
core +2 more sources
Epilepsia, EarlyView.Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze +19 more
wiley +1 more source
Nature's Starships II: Simulating the Synthesis of Amino Acids in Meteorite Parent Bodies
, 2015 Carbonaceous chondrite meteorites are known for having high water and organic material contents, including amino acids. Here we address the origin of amino acids in the warm interiors of their parent bodies (planetesimals) within a few million years of ...
Cobb, Alyssa K. +2 more
core +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +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
Functional Characterization of Native, High-Affinity GABAA Receptors in Human Pancreatic β Cells
EBioMedicine, 2018 In human pancreatic islets, the neurotransmitter γ-aminobutyric acid (GABA) is an extracellular signaling molecule synthesized by and released from the insulin-secreting β cells.
Sergiy V. Korol +10 more
doaj +1 more source
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 +3 more
wiley +1 more source
Effect of alternative seed treatments on seed-borne fungal diseases in tomato [PDF]
, 2007 The fungus Didymella lycopersici infects tomato seed and results in great losses before and after germination. To control the disease, seed companies use thiram preventively, although human allergy problems have been reported.
Goumas, D. E. +3 more
core
A Preliminary Investigation towards the Risk Stratification of Allogeneic Stem Cell Recipients with Respect to the Potential for Development of GVHD via Their Pre-Transplant Plasma Lipid and Metabolic Signature [PDF]
, 2019 The clinical outcome of allogeneic hematopoietic stem cell transplantation (SCT) may be influenced by the metabolic status of the recipient following conditioning, which in turn may enable risk stratification with respect to the development of transplant-
Contaifer, Daniel, Jr. +8 more
core +2 more sources