Results 161 to 170 of about 9,035 (197)
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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
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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
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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 ...
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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 ...
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Annual Review of Neuroscience, 2010
Inherited ion channel mutations can affect the entire nervous system. Many cause paroxysmal disturbances of brain, spinal cord, peripheral nerve or skeletal muscle function, with normal neurological development and function in between attacks. To fully understand how mutations of ion channel genes cause disease, we need to know the normal location and
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Inherited ion channel mutations can affect the entire nervous system. Many cause paroxysmal disturbances of brain, spinal cord, peripheral nerve or skeletal muscle function, with normal neurological development and function in between attacks. To fully understand how mutations of ion channel genes cause disease, we need to know the normal location and
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Nature, 2002
Genetic alterations of various ion channels produce heritable cardiac arrhythmias that predispose affected individuals to sudden death. The investigation of such 'channelopathies' continues to yield remarkable insights into the molecular basis of cardiac excitability.
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Genetic alterations of various ion channels produce heritable cardiac arrhythmias that predispose affected individuals to sudden death. The investigation of such 'channelopathies' continues to yield remarkable insights into the molecular basis of cardiac excitability.
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Pflügers Archiv - European Journal of Physiology, 2010
Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6).
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Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6).
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Channelopathies in Children and Adults
Pacing and Clinical Electrophysiology, 2008In the last decade, pediatric cardiologists have witnessed a revolution in the knowledge of the pathophysiology of rare arrhythmias. The identification of the molecular basis of several hereditary arrhythmia syndromes has been instrumental in this development.
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Rinsho shinkeigaku = Clinical neurology, 2002
Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies, paroxysmal movement disorders, myopathies and some degenerative disorders of central nervous system. Ion channel defects were mainly caused by genetic and autoimmune mechanisms.
K, Okamoto, Y, Ikeda
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Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies, paroxysmal movement disorders, myopathies and some degenerative disorders of central nervous system. Ion channel defects were mainly caused by genetic and autoimmune mechanisms.
K, Okamoto, Y, Ikeda
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Channelopathies in fragile X syndrome
Nature Reviews Neuroscience, 2021Pan-Yue Deng, Vitaly A Klyachko
exaly