Physiologic Principles Underlying Ion Channelopathies

Stephen C. Cannon

doi:10.1016/j.nurt.2007.01.015

Physiologic Principles Underlying Ion Channelopathies

Stephen C. Cannon

Neurology & Neurotherapeutics

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Abstract

The ion channelopathies are a diverse array of human disorders caused by mutations in genes coding for ion channels. More than 40 different channelopathies have been identified, with representative disorders from every major class of ion channel and affecting all electrically excitable tissues: brain, peripheral nerve, skeletal muscle, smooth muscle, and heart. This review provides an overview of ion channel classification, structure, and function as a framework for understanding which ion channel properties are altered by disease-associated mutations and how these changes disrupt cellular excitability for channelopathies affecting skeletal muscle and the CNS.

Original language	English (US)
Pages (from-to)	174-183
Number of pages	10
Journal	Neurotherapeutics
Volume	4
Issue number	2
DOIs	https://doi.org/10.1016/j.nurt.2007.01.015
State	Published - Apr 2007

Keywords

Channel mutation
brain
electrophysiology
skeletal muscle

ASJC Scopus subject areas

Pharmacology
Clinical Neurology
Pharmacology (medical)

Access to Document

10.1016/j.nurt.2007.01.015

Cite this

@article{0cbd98dbeb034e40901cb1886e475236,

title = "Physiologic Principles Underlying Ion Channelopathies",

abstract = "The ion channelopathies are a diverse array of human disorders caused by mutations in genes coding for ion channels. More than 40 different channelopathies have been identified, with representative disorders from every major class of ion channel and affecting all electrically excitable tissues: brain, peripheral nerve, skeletal muscle, smooth muscle, and heart. This review provides an overview of ion channel classification, structure, and function as a framework for understanding which ion channel properties are altered by disease-associated mutations and how these changes disrupt cellular excitability for channelopathies affecting skeletal muscle and the CNS.",

keywords = "Channel mutation, brain, electrophysiology, skeletal muscle",

author = "Cannon, {Stephen C.}",

note = "Funding Information: Work in the author{\textquoteright}s laboratory has been supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke of the U.S. National Institutes of Health; the Muscular Dystrophy Association; and the Foundation for Anesthesia Education and Research.",

year = "2007",

month = apr,

doi = "10.1016/j.nurt.2007.01.015",

language = "English (US)",

volume = "4",

pages = "174--183",

journal = "Neurotherapeutics",

issn = "1933-7213",

publisher = "Springer New York",

number = "2",

}

TY - JOUR

T1 - Physiologic Principles Underlying Ion Channelopathies

AU - Cannon, Stephen C.

N1 - Funding Information: Work in the author’s laboratory has been supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke of the U.S. National Institutes of Health; the Muscular Dystrophy Association; and the Foundation for Anesthesia Education and Research.

PY - 2007/4

Y1 - 2007/4

N2 - The ion channelopathies are a diverse array of human disorders caused by mutations in genes coding for ion channels. More than 40 different channelopathies have been identified, with representative disorders from every major class of ion channel and affecting all electrically excitable tissues: brain, peripheral nerve, skeletal muscle, smooth muscle, and heart. This review provides an overview of ion channel classification, structure, and function as a framework for understanding which ion channel properties are altered by disease-associated mutations and how these changes disrupt cellular excitability for channelopathies affecting skeletal muscle and the CNS.

AB - The ion channelopathies are a diverse array of human disorders caused by mutations in genes coding for ion channels. More than 40 different channelopathies have been identified, with representative disorders from every major class of ion channel and affecting all electrically excitable tissues: brain, peripheral nerve, skeletal muscle, smooth muscle, and heart. This review provides an overview of ion channel classification, structure, and function as a framework for understanding which ion channel properties are altered by disease-associated mutations and how these changes disrupt cellular excitability for channelopathies affecting skeletal muscle and the CNS.

KW - Channel mutation

KW - brain

KW - electrophysiology

KW - skeletal muscle

UR - http://www.scopus.com/inward/record.url?scp=33947495204&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33947495204&partnerID=8YFLogxK

U2 - 10.1016/j.nurt.2007.01.015

DO - 10.1016/j.nurt.2007.01.015

M3 - Article

C2 - 17395127

AN - SCOPUS:33947495204

SN - 1933-7213

VL - 4

SP - 174

EP - 183

JO - Neurotherapeutics

JF - Neurotherapeutics

IS - 2

ER -

Physiologic Principles Underlying Ion Channelopathies

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this