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ChannelopathiesSome of the next articles are maybe not open access.
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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
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
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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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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.
openaire +2 more sources