Results 151 to 160 of about 9,035 (197)
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1999 openaire +1 more source
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2023
CaV3.3 is the third member of the low-voltage-activated calcium channel family and the last to be recognized as disease gene. Previously, CACNA1I, the gene encoding CaV3.3, had been described as schizophrenia risk gene. More recently, de novo missense mutations in CACNA1I were identified in patients with variable degrees of neurodevelopmental disease ...
Yousra, El Ghaleb, Bernhard E, Flucher
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CaV3.3 is the third member of the low-voltage-activated calcium channel family and the last to be recognized as disease gene. Previously, CACNA1I, the gene encoding CaV3.3, had been described as schizophrenia risk gene. More recently, de novo missense mutations in CACNA1I were identified in patients with variable degrees of neurodevelopmental disease ...
Yousra, El Ghaleb, Bernhard E, Flucher
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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.
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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.
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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
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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
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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
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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
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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.
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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.
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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
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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
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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 ...
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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 ...
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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
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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
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