Results 211 to 220 of about 232,331 (307)

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6. [PDF]

Bioinformatics
Brown SD, Dreolini L, Minor A, Mozel M, Wong N, Mar S, Lieu A, Khan M, Carlson A, Hrynchak M, Holt RA, Missirlis PI.   +11 more
europepmc   +1 more source

Ketogenic diet fails to mitigate seizures and neuroinflammatory responses in a mouse model of virus‐induced epilepsy

Epilepsia, EarlyView.
Abstract Objective The ketogenic diet (KD) is a high‐fat, low‐carbohydrate intervention widely used to treat drug‐resistant epilepsy, thought to reduce seizures through a combination of metabolic, neuronal, and microbiota‐dependent mechanisms. Additionally, recent studies suggest that the anticonvulsant effects of KD require the gut microbiota, with ...
Casey H. Meili, Kaitlyn Allen, Daniel J. Doty, Sofia Del Fiol, Ana Beatriz DePaula‐Silva   +4 more
wiley   +1 more source

Gut‐microbiota‐brain Axis and post‐traumatic epilepsy

Epilepsia Open, EarlyView.
Abstract There has been growing evidence that perturbations in gut‐microbiota‐brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post‐traumatic epilepsy (PTE), the latter being a common outcome of TBI.
Andrey Mazarati
wiley   +1 more source

Author Correction: Fast analysis and engineering of protein function by microbe-independent deep assembly and screening. [PDF]

Mol Syst Biol
Wu Y, Wang P, Liu LX, Song D, Qin Q, Gao C, Hageman M, Kirkland TA, Su Y, Lin MZ.   +9 more
europepmc   +1 more source

Exploring medical food supplementation as an adjunct strategy for microbiota restoration and seizure reduction in CDKL5 deficiency disorder

Epilepsia Open, EarlyView.
Abstract Objectives CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy characterized by early‐onset, treatment‐resistant seizures and severe neurodevelopmental impairment. Increasing evidence suggests that alterations in the gut–brain axis may contribute to disease pathophysiology, raising interest in microbiota‐targeted ...
Elisa Borghi, Matteo Domenico Marsiglia, Francesca Triva, Emerenziana Ottaviano, Ilaria Viganò, Miriam Nella Savini, Valentino Costabile, Aglaia Vignoli   +7 more
wiley   +1 more source

Benchmarking Denoising Strategies and Nucleic Acid Templates for ITS2 Amplicon Sequencing of Gut Mycobiome. [PDF]

FASEB J
Dai T, Dai Y, Bai J, Li W, Chen P.
europepmc   +1 more source

Vaginal host–microbe signatures linked to placental outcomes in mares

Equine Veterinary Journal, EarlyView.
Abstract Background Ascending placentitis is a leading cause of late‐term pregnancy loss in mares. Although pathogens are presumed to ascend from the caudal reproductive tract, the association between the vaginal microbiome and placentitis has not been systematically examined.
Machteld van Heule, Babiche Heil, Jamie K. Norris, Kristene Gedye, Xiaoxiao Lin, Ward De Spiegelaere, Peter Daels, Pouya Dini   +7 more
wiley   +1 more source

PvGAP: Development of a Globally Applicable, Highly Multiplexed Microhaplotype Amplicon Panel for Plasmodium vivax. [PDF]

J Infect Dis
Hubbard A, Solares E, Bradley L, Jeang B, Yewhalaw D, Janies D, Lo E, Yan G, Hemming-Schroeder E.   +8 more
europepmc   +1 more source

Diagnosis of bacteraemia in neonatal foals using 16S rRNA high‐throughput sequencing

Equine Veterinary Journal, EarlyView.
Abstract Background Sepsis is an important cause of morbidity and mortality in foals. Early diagnosis can improve outcome but is complicated by non‐specific clinical signs and delayed confirmation of infection via blood culture. Molecular assays represent a rapid and more sensitive alternative.
Flavie Payette, Alicia E. Long, Weiming Hu, Kyle Bittinger, Ahmed M. Moustafa, Darko Stefanovski, Michelle Abraham, Maia R. Aitken   +7 more
wiley   +1 more source