Advanced Search
REVIEW ARTICLE
Korean J Pediatr 2014 January;57(1) :1-18.
Published online 2013 October 04.       
Channelopathies
June-Bum Kim
Department of Pediatrics, Seoul Childrens Hospital, Seoul, Korea
Corresponding Author: June-Bum Kim ,Tel: +82-2-887-3355, Fax: +82-2-2202-3366, Email: hoppdoctor@hanmail.net
Copyright © 2014 by The Korean Pediatric Society
ABSTRACT
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.
Keywords: Channelopathies | Ion channels | Genetics | Pathophysiology
TOOLS
PDF Links  PDF Links
Full text via DOI  Full text via DOI
Download Citation  Download Citation
Supplementary Material  Supplementary Material
  E-Mail
Share:      
METRICS
3,526
View
242
Download
Lymphadenopathy  2008 August;51(8)
Register for e-submission
Register here to access the e-submission system of Korean J Pediatr for authors and reviewers.
Manuscript Submission
To submit a manuscript, please visit the Korean J Pediatr e-submission management system at http://submit.kjp.or.kr, read the Instructions for Authors, and log into the Korean J Pediatr e-submission system. For assistance with manuscript submission, please contact: kjpped@gmail.com.
Free archive
Anyone may access any past or current articles without logging in.
Korean Pediatric Society Office
#1606, Seocho World Officetel, 19 Seoun-ro, Seocho-gu, Seoul 137-070, Korea
TEL : +82-2-3473-7305    FAX : +82-2-3473-7307   E-mail: kjpped@gmail.com
BrowseCurrent IssueFor Authors and ReviewersAbout
Copyright© The Korean Pediatric Society. All right reserved.