Results 191 to 200 of about 11,955 (223)
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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, 2021Vitaly A Klyachko, Panyue Deng
exaly
Impact of genetics on the clinical management of channelopathies.
Journal of the American College of Cardiology, 2013Alfred L George, Michael J Ackerman
exaly