Results 81 to 90 of about 8,166 (199)
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li +19 more
wiley +1 more source
Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights
The Journal of Physiology, EarlyView.Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò +18 more
wiley +1 more source
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic SCN5A p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje‐origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function.
Jonathan L. Ciofani +2 more
wiley +1 more source
Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
Epilepsia OpenObjectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico +12 more
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 6, Page 857-863, June 2026.This multicenter retrospective study evaluated the use of intravenous immunoglobulin (IVIG) in 14 children with Dravet syndrome as a preventive strategy against febrile status epilepticus. Over a 6‐month period, IVIG was associated with a significant reduction in hospitalizations for febrile status epilepticus.
Romane Marc +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Molecular Nutrition &Food Research, Volume 70, Issue 9, 13 May 2026.ABSTRACT Gallic acid (GA), a plant‐derived phenolic compound, is evolving from a general antioxidant into a specific molecular modulator and a functional building block for advanced biomedical materials. This review synthesizes recent insights underpinned by GA's “redox duality”—its capacity to act as either a radical scavenger or a pro‐oxidant.
Woo Hyun Park
wiley +1 more source
Phytotherapy Research, Volume 40, Issue 5, Page 2604-2631, May 2026.Schematic overview of the proposed neuromodulatory actions of linalool in Alzheimer's disease. Through multi‐target effects on oxidative stress, amyloid aggregation, GABAergic and glutamatergic signaling, linalool may restore excitatory/inhibitory balance.
Ilaria Piccialli +4 more
wiley +1 more source