Results 61 to 70 of about 2,073 (179)

JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias

open access: yes, 2022
Journal of Arrhythmia, Volume 38, Issue 6, Page 833-973, December 2022.
Katsushige Ono   +56 more
wiley   +1 more source

Meta-analysis of T peak –T end and T peak –T end /QT ratio for risk stratification in congenital long QT syndrome [PDF]

open access: yes, 2018
Background and objectives: Congenital long QT syndrome (LQTS) predisposes affected individuals to ventricular tachycardia/fibrillation (VF/VF), potentially resulting in sudden cardiac death.
Baranchuk, Adrian M.   +12 more
core   +1 more source

Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy [PDF]

open access: yes, 2016
Background: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only.
Antoine, Jean-Christophe   +10 more
core   +4 more sources

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

open access: yesThe 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

Andersen-Tawil Syndrome Presenting with Complete Heart Block

open access: yesJournal of Neuromuscular Diseases, 2020
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features.
Suetterlin K   +10 more
openaire   +5 more sources

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

open access: yesThe 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

Andersen-Tawil Syndrome Presenting with Complete Heart Block [PDF]

open access: yes, 2021
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features ...
Fialho, D   +10 more
core  

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

open access: yesActa Paediatrica, Volume 115, Issue 5, Page 1116-1125, May 2026.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt   +3 more
wiley   +1 more source

An inwardly rectifying K+ channel is required for patterning. [PDF]

open access: yes, 2012
Mutations that disrupt function of the human inwardly rectifying potassium channel KIR2.1 are associated with the craniofacial and digital defects of Andersen-Tawil Syndrome, but the contribution of Kir channels to development is undefined.
Bates, Emily   +6 more
core  

Opening closed inward rectifier potassium channel doors

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger   +3 more
wiley   +1 more source

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