Results 61 to 70 of about 11,955 (223)
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
Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman +11 more
wiley +1 more source
Zebrafish Models of KATP Channelopathies [PDF]
, 2021 Much work has been carried out to understand the composition, structure, and function of ATP-sensitive potassium (KATP) channels in mammalian tissues, as well as the molecular basis of the channelopathies that result from loss-of-function or gain-of ...
Singareddy, Soma S
core +1 more source
Autoimmune Calcium Channelopathies and Cardiac Electrical Abnormalities [PDF]
, 2019 Patients with autoimmune diseases are at increased risk for developing cardiovascular diseases, and abnormal electrocardiographic findings are common.
Pietro Enea Lazzerini +5 more
core +3 more sources
Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model
Epilepsia, EarlyView.Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez +11 more
wiley +1 more source
[The spectrum of hereditary skeletal-muscle channelopathies] [PDF]
, 2005 Contains fulltext : 48299.pdf (Publisher’s version ) (Closed access)Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms.
Engelen, B.G.M. van +4 more
core
Autoimmune channelopathies and related neurological disorders. [PDF]
, 2006 Ion channels are crucial elements in neuronal signaling and synaptic transmission, and defects in their function are known to underlie rare genetic disorders, including some forms of epilepsy.
Kleopa, KA +6 more
core +1 more source
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
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
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