Literature DB >> 11317056

Ion channels in disease.

D Bockenhauer1.   

Abstract

Diseases as different as cardiac arrhythmias, epilepsy, myotonia, malignant hyperthermia, familial hyperinsulinism, and Bartter syndrome have all been linked to mutations in genes encoding ion channels. This has been made possible by an exciting and fruitful collaboration between clinicians, geneticists, and physiologists. It has led to a more detailed understanding not only of pathology but also of physiology, as the deficiency of a certain gene helps unravel its physiologic role. Some exciting and surprising findings have recently been made in the field of "channelopathies." Understanding these diseases on the molecular level will provide the basis for a rational therapeutic approach to affected patients.

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Year:  2001        PMID: 11317056     DOI: 10.1097/00008480-200104000-00010

Source DB:  PubMed          Journal:  Curr Opin Pediatr        ISSN: 1040-8703            Impact factor:   2.856


  2 in total

1.  Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Authors:  J Helen Cross; Ruchi Arora; Rolf A Heckemann; Roxana Gunny; Kling Chong; Lucinda Carr; Torsten Baldeweg; Ann-Marie Differ; Nicholas Lench; Sophie Varadkar; Tony Sirimanna; Evangeline Wassmer; Sally A Hulton; Milos Ognjanovic; Venkateswaran Ramesh; Sally Feather; Robert Kleta; Alexander Hammers; Detlef Bockenhauer
Journal:  Dev Med Child Neurol       Date:  2013-09       Impact factor: 5.449

2.  PSIONplusm Server for Accurate Multi-Label Prediction of Ion Channels and Their Types.

Authors:  Jianzhao Gao; Hong Wei; Alberto Cano; Lukasz Kurgan
Journal:  Biomolecules       Date:  2020-06-07
  2 in total

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