Results 111 to 120 of about 16,999 (238)

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, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Membrane physiology and biophysics—Another milestone

Frontiers in Physiology, 2022
Christoph Fahlke
doaj   +1 more source

Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome Cardiomyopathy

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, Hariharan Raju, Malcolm Anastasius   +2 more
wiley   +1 more source

Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions

Neural Regeneration Research
Voltage-gated sodium channels are essential ionic-conductance pathways in the nervous system, which play an irreplaceable role in modulating neuronal excitability and signal transduction.
Ni Li, Lin Yan, Anna Peng, Xuefei Fu, Huan Qin, Kai Yao   +5 more
doaj   +1 more source

Intravenous immunoglobulin and febrile status epilepticus in children with Dravet syndrome: A retrospective multicentre study

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, Nicole Chemaly, Mathieu Kuchenbuch, Caroline Espil‐Taris, Elodie Lametery, Hélène Maurey, Sylviane Peudenier, Sylvie Nguyen The Tich, Rima Nabbout, Claire Bar   +9 more
wiley   +1 more source

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report

Biomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +1 more source

Revisión bibliográfica sobre la paramiotonía congénita [PDF]

, 2013
Introducción. La paramiotonía congénita es una infrecuente patología muscular hereditaria cuyos síntomas principales son la miotonía no distrófica y los periodos de paresia/parálisis.
Guirao Martínez, Sebastián
core   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

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, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]

, 2019
Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan, Cavalli, Valeria, Deng, Pan-Yue, Klyachko, Vitaly A, Myrick, Leila K, Oh, Young Mi, Warren, Stephen T   +6 more
core   +1 more source

The Evolving Therapeutic Landscape of Gallic Acid: A Review of Mechanistic Insights and Clinical Potential

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