Results 181 to 190 of about 11,955 (223)
Some of the next articles are maybe not open access.
2023
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis,
Vinojini, Vivekanandam +2 more
openaire +2 more sources
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis,
Vinojini, Vivekanandam +2 more
openaire +2 more sources
Neuropharmacology, 1997
The molecular diversity of K(+)-selective channels far exceeds any other group of voltage- or ligand-gated channels, reflecting their early ancestral origin. This diversity is mirrored by the broad spectrum of physiological functions subserved by these proteins. Potassium channels modulate the resting potential and action potential duration of neurons,
M C, Sanguinetti, P S, Spector
openaire +2 more sources
The molecular diversity of K(+)-selective channels far exceeds any other group of voltage- or ligand-gated channels, reflecting their early ancestral origin. This diversity is mirrored by the broad spectrum of physiological functions subserved by these proteins. Potassium channels modulate the resting potential and action potential duration of neurons,
M C, Sanguinetti, P S, Spector
openaire +2 more sources
Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
Biology, 2017 Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals.
Oscar Campuzano, Josep Brugada
exaly +2 more sources
Continuum, 2022
This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis.An increasing awareness exists about the genotype-phenotype overlap in skeletal muscle channelopathies, and thus genetic testing is needed to make a definitive diagnosis.
openaire +2 more sources
This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis.An increasing awareness exists about the genotype-phenotype overlap in skeletal muscle channelopathies, and thus genetic testing is needed to make a definitive diagnosis.
openaire +2 more sources
Current Treatment Options in Neurology, 2000
In patients with mutations in the genes that encode the chloride, sodium, and calcium channels in skeletal muscle, there is abnormal function of the muscle membrane, which can cause myotonia or attacks of weakness. Mutations in the chloride and sodium channels can lead to myotonia, which typically begins in early childhood.
openaire +2 more sources
In patients with mutations in the genes that encode the chloride, sodium, and calcium channels in skeletal muscle, there is abnormal function of the muscle membrane, which can cause myotonia or attacks of weakness. Mutations in the chloride and sodium channels can lead to myotonia, which typically begins in early childhood.
openaire +2 more sources
Continuum, 2006
In recent years the term CHANNELOPATHY has been adopted to describe neurological disorders caused by mutations in different ion channel genes. Myopathic channelopathies include two main groups: nondystrophic myotonias and periodic paralyses. This article reviews the clinical features, diagnostic approach, molecular causes, and management of patients ...
openaire +2 more sources
In recent years the term CHANNELOPATHY has been adopted to describe neurological disorders caused by mutations in different ion channel genes. Myopathic channelopathies include two main groups: nondystrophic myotonias and periodic paralyses. This article reviews the clinical features, diagnostic approach, molecular causes, and management of patients ...
openaire +2 more sources
Pediatric Neurology, 2008
Channelopathies are a recently delineated, emerging group of neurologic disorders united by genetically determined defects in ion-channel function. These disorders are characterized by a prominent genetic and phenotypic heterogeneity that can make them challenging and bewildering to understand.
Genevieve, Bernard, Michael I, Shevell
openaire +2 more sources
Channelopathies are a recently delineated, emerging group of neurologic disorders united by genetically determined defects in ion-channel function. These disorders are characterized by a prominent genetic and phenotypic heterogeneity that can make them challenging and bewildering to understand.
Genevieve, Bernard, Michael I, Shevell
openaire +2 more sources
Pflügers Archiv - European Journal of Physiology, 2010
KV7 voltage-gated potassium channels, encoded by the KCNQ gene family, have caught increasing interest of the scientific community for their important physiological roles, which are emphasized by the fact that four of the five so far identified members are related to different hereditary diseases.
Snezana, Maljevic +3 more
openaire +2 more sources
KV7 voltage-gated potassium channels, encoded by the KCNQ gene family, have caught increasing interest of the scientific community for their important physiological roles, which are emphasized by the fact that four of the five so far identified members are related to different hereditary diseases.
Snezana, Maljevic +3 more
openaire +2 more sources
Neurologic Clinics, 2014
Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis and therapeutics.
Jeffrey, Statland +2 more
openaire +2 more sources
Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis and therapeutics.
Jeffrey, Statland +2 more
openaire +2 more sources
NeuroMolecular Medicine, 2006
Intracellular calcium ([Ca2+]i) is highly regulated in eukaryotic cells. The free [Ca2+]i is approximately four orders of magnitude less than that in the extracellular environment. It is, therefore, an electrochemical gradient favoring Ca2+ entry, and transient cellular activation increasing Ca2+ permeability will lead to a transient increase in [Ca2 ...
openaire +2 more sources
Intracellular calcium ([Ca2+]i) is highly regulated in eukaryotic cells. The free [Ca2+]i is approximately four orders of magnitude less than that in the extracellular environment. It is, therefore, an electrochemical gradient favoring Ca2+ entry, and transient cellular activation increasing Ca2+ permeability will lead to a transient increase in [Ca2 ...
openaire +2 more sources