Inherited channelopathies

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].)... 

Balser JR. Inherited sodium channelopathies novel therapeutic and proarrhythmic molecular mechanisms. Trends Cardiovasc Med. 2001 11 229-237. 

Sokolov S, Scheuer T, Catterall WA. Gating pore current in an inherited ion channelopathy. Nature 2007 446 76-78. 

Jen J, Ptacek LJ 2000 Channelopathies episodic disorders of the nervous system. In Schriver CR, Beaudet AL, Sly WS, Valle D, VogelsteinB, Childs B (eds) Metabolic and molecular bases of inherited disease. McGraw-Hill, New York, p 5223-5238... 

A second major category of ion channelopathy arises from defects in neuronal regulatory pathways that control the expression, location and membrane stabilization of Na channels. The molecular plasticity of Na channels that follows injury to the adult axon is well described (see Waxman 2000, for review), but less is understood about inherited defects that trigger Na channel rearrangements during brain development. 

The channelopathy present in the shiverer mutant may be relevant to understanding epileptogenesis in an inherited human chnical syndrome, 18t]. This mental retardation syndrome is of particular interest since the deleted chromosomal region contains the human orthologue of the myehn basic protein gene, and is accompanied by hypomyehnation and characteristic seizures. 

Inherited ion channel pathophysiologies are referred to as channelopathies. Some cardiac channelopathies lead to inherited long QT syndrome (LQTS) (see Nakano and Shimizu 2016). Bunch and Ackerman (2007) observed that the discipline of cardiac channelopathies began in 1995 with the discovery of mutations in genes encoding critical cardiac ion channels. Schwartz (2005, p.l86) commented on this occurrence as follows ... 

Baumert M, Porta A, Vos MA et al (2016) QT interval variability in body surface ECG measurement, physiological basis, and clinical value position statement and consensus guidance endorsed by the European Heart Rhythm Association jointly with the ESC Working Group on Cardiac Cellular Electrophysiology. Europace 18 925-944 Behere SP, Weindfing SN (2015) Inherited arrhythmias The cardiac channelopathies. Ann Pediatr Cardiol 8 210-220... 

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