Korean J Pediatr.  2014 Jan;57(1):1-18. 10.3345/kjp.2014.57.1.1.

Channelopathies

• Kim JB

• KMID: 1875954
• DOI: http://doi.org/10.3345/kjp.2014.57.1.1

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.

Keyword

Channelopathies; Ion channels; Genetics; Pathophysiology

MeSH Terms

Ataxia
Bartter Syndrome
Brugada Syndrome
Cardiovascular System
Channelopathies*
Diabetes Insipidus, Nephrogenic
Diabetes Mellitus
Endocrine System
Epilepsy, Generalized
Genetics
Hypoglycemia
Hypokalemic Periodic Paralysis
Immune System
Ion Channels
Isaacs Syndrome
Long QT Syndrome
Membranes
Migraine with Aura
Myasthenia Gravis
Nervous System
Neuromyelitis Optica
Organelles
Polycystic Kidney Diseases
Respiratory System
Seizures, Febrile
Ion Channels