PMID: 11317056Apr 24, 2001Paper

Ion channels in disease

Current Opinion in Pediatrics
D Bockenhauer

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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Citations

May 17, 2003·Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies·Nikolaus A HaasFrank Uhlemann
Aug 14, 2013·Bioanalysis·Pieter Mm De KeselChristophe P Stove
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Aug 9, 2013·Developmental Medicine and Child Neurology·J Helen CrossDetlef Bockenhauer
Mar 10, 2017·Angewandte Chemie·Sopan Valiba Shinde, Pinaki Talukdar
Aug 29, 2018·Chemical Communications : Chem Comm·Sopan Valiba Shinde, Pinaki Talukdar
Apr 16, 2019·Organic & Biomolecular Chemistry·Sopan Valiba Shinde, Pinaki Talukdar
Aug 16, 2003·Current Opinion in Nephrology and Hypertension·Steven C Hebert

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