Results 41 to 50 of about 9,035 (197)
Pflügers Archiv - European Journal of Physiology, 2009 Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. Mutations in KCNH2 (the gene that encodes hERG1) causes LQT2, one of the most common forms of long QT syndrome, a disorder of cardiac repolarization that predisposes affected subjects to ...
openaire +2 more sources
ESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh +18 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency
Epilepsia, 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
Frontiers in Neurology, 2020 Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro +5 more
wiley +1 more source
Calcium in Brugada Syndrome: Questions for Future Research
Frontiers in Physiology, 2018 The Brugada syndrome (BrS) is characterized by coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG) and increased risk of sudden cardiac death (SCD).
Michelle M. Monasky +6 more
doaj +1 more source
Viruses, 2020 Ion channels play key roles in almost all facets of cellular physiology and have emerged as key host cell factors for a multitude of viral infections. A catalogue of ion channel-blocking drugs have been shown to possess antiviral activity, some of which ...
Frank W. Charlton +6 more
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Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
Frontiers in Pediatrics, 2021 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark.
Mercedes Serrano, Mercedes Serrano
doaj +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source