Results 191 to 200 of about 158,966 (261)

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

open access: yesEpilepsia, 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   +11 more
wiley   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

open access: yesEpilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza   +4 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

open access: yesEpilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury   +3 more
wiley   +1 more source

Multi-omics analysis identifies a role for <i>Streptococcus suis</i> MnmE in growth regulation and environmental adaptation. [PDF]

open access: yesMicrobiol Spectr
Huang Y   +9 more
europepmc   +1 more source

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

open access: yesEpilepsia 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   +7 more
wiley   +1 more source

Non-penicillin -susceptible and linezolid-non-susceptible Streptococcus suis clonal complex 233 from humans. [PDF]

open access: yesSci Rep
Hatrongjit R   +12 more
europepmc   +1 more source

Tracheal wash culture is not associated with bronchial infection, remodelling or inflammation in horses with asthma

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Antimicrobials are commonly prescribed for the treatment of equine asthma, despite limited evidence supporting their use. Tracheal wash (TW) bacterial culture results are known to influence antimicrobial prescription decisions. Objectives To determine whether a positive TW bacterial culture in horses with asthma is associated with ...
Laurence Leduc   +2 more
wiley   +1 more source

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