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Channelopathies

Known Diseases (Channelopathies) Resulting from Kir Channel Mntations... [Pg.656]

Multiple channelopathies resulting from mutations in Kir channels are known. [Pg.656]

A large group of diseases is associated with mutations in Ca2+-channels (channelopathies) and... [Pg.1101]

Cox JJ, Reimann F, Nicholas AK et al (2006) An SCN9A channelopathy causes congenital inability to experience pain. Nature 444 894—898... [Pg.1308]

Mntations in Hnman Kv-Genes Associated with Hereditary Channelopathies... [Pg.1312]

Mutations in human Kv-channel genes have been detected that are associated with hereditary diseases ranging from heart arrythmia (long QT-syndrome) and deafness to epilepsy and ataxia (see Table 2). Typically, many Kv-channel related channelopathies are correlated with a mutant phenotype that is episodic in nature and appears as a dominant hereditary trait. [Pg.1312]

Felix R Channelopathies ion channel defects linked to heritable clinical disorders. J Med Genet 2000 37 729. [Pg.433]

Table 49-5. Some disorders (channelopathies) due to mutations in genes encoding polypeptide constituents of ion channels. ... Table 49-5. Some disorders (channelopathies) due to mutations in genes encoding polypeptide constituents of ion channels. ...
Data in part from Ackerman NJ, Clapham DE Ion channels— basic science and clinical disease. N Engl J Med 1997,-336 1575. Other channelopathies include the long QT syndrome (MIM 192500) pseudoaldosteronism (Liddle syndrome, MIM 177200) persistent hyperinsulinemic hypoglycemia of infancy (MIM 601820) hereditary X-linked recessive type II nephrolithiasis of infancy (Dent syndrome, MIM 300009) and generalized myotonia, recessive (Becker disease, MIM 255700). The term "myotonia" signifies any condition in which muscles do not relax after contraction. [Pg.569]

Scriver CR et al (editors) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, 2001. (This comprehensive four-volume text contains coverage of malignant hyperthermia [Chapter 9], channelopathies [Chapter 204], hypertrophic cardiomyopathy [Chapter 213]> the muscular dystrophies [Chapter 216], and disorders of intermediate filaments and their associated proteins [Chapter 221].)... [Pg.579]

Ptacek, L. J. Channelopathies ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromusc. Disord. 7 250-255,1997. [Pg.638]

CALCIUM CHANNELOPATHIES VOLTAGE-GATED CALCIUM CHANNELS... [Pg.215]

To date, human channelopathies have been associated with five of the ten calcium channel a subunit genes and two of the auxiliary subunit genes. Given... [Pg.216]

Although substantial progress has been made towards understanding the cellular mechanisms behind the channelopathies associated with the Cav2.1 channel, important questions remain. First, all three disorders described above exhibit temporal-related phenotypes, e.g., FHM1 and EA2 are episodic and SCA6 is... [Pg.226]

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See also in sourсe #XX -- [ Pg.568 , Pg.569 ]

See also in sourсe #XX -- [ Pg.126 ]

See also in sourсe #XX -- [ Pg.220 , Pg.476 ]

See also in sourсe #XX -- [ Pg.167 ]

See also in sourсe #XX -- [ Pg.167 ]

See also in sourсe #XX -- [ Pg.208 ]



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Channelopathies acquired

Channelopathies inherited

Channelopathies myotonias

Epilepsy channelopathies

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