Results 61 to 70 of about 16,843 (240)
American Journal of Medical Genetics Part A, EarlyView.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
News and views on ion channels in cancer: is cancer a channelopathy?
Frontiers in Pharmacology, 2023 Ion channels are key signaling proteins found throughout the body; they are critical in many, wide-ranging physiological processes, from gene expression, sensory perception and processing to the cardiac action potential.
Damian C. Bell +3 more
doaj +1 more source
Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis. [PDF]
, 2019 Periodic paralysis is an ion channelopathy of skeletal muscle in which recurrent episodes of weakness or paralysis are caused by sustained depolarization of the resting potential and thus reduction of fiber excitability.
Cannon, Stephen C +4 more
core +1 more source
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
Autoimmune Channelopathies at Neuromuscular Junction
Frontiers in Neurology, 2019 The neuromuscular junction, also called myoneural junction, is a site of chemical communication between a nerve fiber and a muscle cell. There are many types of channels at neuromuscular junction that play indispensable roles in neuromuscular signal ...
Kun Huang +3 more
doaj +1 more source
Brain and Behavior, 2021 Background Autism spectrum disorder (ASD) and epilepsy are highly comorbid, suggesting potential overlap in genetic etiology, pathophysiology, and neurodevelopmental abnormalities; however, the nature of this relationship remains unclear.
Jagadeeswaran Indumathy +4 more
doaj +1 more source
Ventricular Tachycardia in the Absence of Structural Heart Disease [PDF]
, 2005 In up to 10% of patients who present with ventricular tachycardia (VT), obvious structural heart disease is not identified. In such patients, causes of ventricular arrhythmia include right ventricular outflow tract (RVOT) VT, extrasystoles, idiopathic ...
Appleton, Christopher P +4 more
core +1 more source
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca +11 more
core +6 more sources
Biology, 2017 Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies.
Monica Coll +10 more
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