Big Chemical Encyclopedia

Chemical substances, components, reactions, process design ...

Articles Figures Tables About

Epilepsy channelopathies

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]

Epilepsy also shares many features with known channelopathies indeed, mutations have been identified in both ligand-gated and voltage-gated ion channel genes in different pedigrees with epilepsy (Steinlein et al 1995, 1997, Biervert et al 1998, Charlier et al 1998, Singh et al 1998). [Pg.101]

Alterations in the structure or function of an ion channel caused by mutations in a gene encoding one of the channel s subunits are termed channelopathies. Initially, these abnormalities were associated with cardiac and muscular disorders, but today, it is recognized that channelopathies are responsible for several forms of epilepsy (15,16). Presently, most of the discovered channel mutations appear to be associated with the development of idiopathic generalized epilepsy most partial seizures are believed to be acquired. Minor alterations in gene structure or expression, however, may predispose a given individual to partial seizures. It is estimated that 40% of adult and childhood epilepsy may result from genetic factors. [Pg.768]

Epilepsy is commonly categorised as idiopathic, symptomatic, probable symptomatic (previously known as cryptogenic) and reactive. Idiopathic epilepsies are presumed to have an underlying genetic canse indeed ion channelopathies have been identified in several human idiopathic epilepsy syndromes (Gardiner, 2(X)5). Symptomatic epilepsies, which are thought to account for up to 50% of all epilepsy cases (Delorenzo et al., 2005), arise secondary to an underlying identifiable brain insult or lesion such as stroke, intracranial neoplasia or encephalitis. Probable... [Pg.85]

Bernard, C, Anderson, A, Becker, A, Poolos, NP, Beck, H, Johnston, D (2004) Acquired dendritic channelopathy in temporal lobe epilepsy. Science, 305 532-535. [Pg.105]

Dysfunction of ion channels causes many diseases. Some ion channel diseases are genetic. Channelopathies are caused directly by mutatimis in genes coding for ion channels [4—7]. Examples of channelopathies are cystic fibrosis, epilepsy, and arrhythmias such as the long QT syndrome. Some other ion channels may be involved in nongenetic diseases such as dianfiea, which is mediated by toxicological effects on ion channel function [8]. [Pg.1457]


See other pages where Epilepsy channelopathies is mentioned: [Pg.826]    [Pg.686]    [Pg.220]    [Pg.3]    [Pg.126]    [Pg.826]    [Pg.804]    [Pg.2]    [Pg.101]    [Pg.109]    [Pg.110]    [Pg.114]    [Pg.118]    [Pg.230]    [Pg.2]    [Pg.101]    [Pg.109]    [Pg.110]    [Pg.114]    [Pg.118]    [Pg.230]   
See also in sourсe #XX -- [ Pg.102 ]




SEARCH



Channelopathies

Epilepsies

© 2024 chempedia.info