Results 141 to 150 of about 18,132 (269)
Epilepsia, EarlyView.Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan +28 more
wiley +1 more source
Brugada-type Electrocardiographic Pattern Induced by Fever [PDF]
, 2005 ST-segment elevation in Brugada syndrome is caused by a shift in the ionic current balance and the creation of a voltage gradient between the epicardium and the endocardium. This ionic mechanism have been shown to be temperature dependent. We describe a
Aras, Dursun +4 more
core +2 more sources
Experimental Physiology, EarlyView.Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann +3 more
wiley +1 more source
Sudden death in a young patient with atrial fibrillation
Cardiogenetics, 2017 Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia.
María Tamargo +5 more
doaj +1 more source
Recent advances in our understanding of the structure and function of more unusual cation channels. [PDF]
, 2019 As their name implies, cation channels allow the regulated flow of cations such as sodium, potassium, calcium, and magnesium across cellular and intracellular membranes.
Brown, Brandon M +2 more
core +1 more source
Disease Modifiers of Inherited SCN5A Channelopathy
Frontiers in Cardiovascular Medicine, 2018 To date, a large number of mutations in SCN5A, the gene encoding the pore-forming α-subunit of the primary cardiac Na+ channel (NaV1.5), have been found in patients presenting with a wide range of ECG abnormalities and cardiac syndromes.
A. Verkerk, A. Amin, C. Remme
semanticscholar +1 more source
Potential health benefits of cold‐water immersion: the central role of PGC‐1α
The Journal of Physiology, EarlyView.Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer +2 more
wiley +1 more source
SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization
ChannelsSCN3A, the gene encoding the voltage-gated sodium channel, Nav1.3, plays a critical role in early neuronal development. Although traditionally considered a neonatal channel, emerging evidence has linked SCN3A mutations to a spectrum of neurodevelopmental
Mohammad-Reza Ghovanloo +12 more
doaj +1 more source
, 2006 Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Fish, Frank A +2 more
core +2 more sources
Scientific Reports, 2017 Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 ...
S. Hasan +10 more
semanticscholar +1 more source