Results 231 to 240 of about 283,031 (348)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin   +10 more
wiley   +1 more source

Sodium‐glucose cotransporter 2 inhibitors and the risk of late onset epilepsy: A real‐world cohort study

open access: yesEpilepsia, EarlyView.
Abstract Objective Late onset epilepsy (LOE) is associated with substantial morbidity. Sodium‐glucose cotransporter 2 inhibitors (SGLT2i) may exert neuroprotective effects. This study evaluated the association between SGLT2i and risk of LOE among older adults with type 2 diabetes mellitus.
Bing‐Hua Lin   +3 more
wiley   +1 more source

The Relationship Between Tramadol-Induced Oxidative Testis Injury and Reproductive Function Disorder and Adenosine Triphosphate. [PDF]

open access: yesLife (Basel)
Bedir F   +8 more
europepmc   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

open access: yesEpilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon   +9 more
wiley   +1 more source

Does Adenosine Triphosphate via Purinergic Receptor Signalling Fuel Pulmonary Fibrosis? [PDF]

open access: yesJ Innate Immun
Forde L   +6 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy