Voltage-gated ion channels and hereditary disease

F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …

[HTML][HTML] Channelopathies of skeletal muscle excitability

SC Cannon - Comprehensive Physiology, 2015 - ncbi.nlm.nih.gov
Familial disorders of skeletal muscle excitability were initially described early in the last
century and are now known to be caused by mutations of voltage-gated ion channels. The …

[图书][B] Ion channels and disease

FM Ashcroft - 1999 - books.google.com
Ion channels are membrane proteins that act as gated pathways for the movement of ions
across cell membranes. They play essential roles in the physiology of all cells. In recent …

Ion channel diseases

CA Hübner, TJ Jentsch - Human molecular genetics, 2002 - academic.oup.com
Ion channels serve many functions apart from electrical signal transduction: chemical
signalling (Ca2+ as a second messenger), transepithelial transport, regulation of …

Molecular basis of an inherited epilepsy

C Lossin, DW Wang, TH Rhodes, CG Vanoye… - Neuron, 2002 - cell.com
Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising
from largely unknown cellular and molecular mechanisms. In generalized epilepsy with …

Sodium channelopathies of skeletal muscle

SC Cannon - Voltage-gated sodium channels: structure, function and …, 2018 - Springer
The Na V 1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost
all of the inward Na+ current that generates the action potential, but is not present at …

Cannabidiol inhibits the skeletal muscle Nav1. 4 by blocking its pore and by altering membrane elasticity

MR Ghovanloo, K Choudhury, TS Bandaru… - Journal of General …, 2021 - rupress.org
Cannabidiol (CBD) is the primary nonpsychotropic phytocannabinoid found in Cannabis
sativa, which has been proposed to be therapeutic against many conditions, including …

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

DW Wang, K Yazawa, AL George Jr… - Proceedings of the …, 1996 - National Acad Sciences
The congenital long QT syndrome (LQTS) is an inherited disorder characterized by a
prolonged cardiac action potential. This delay in cellular repolarization can lead to …

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

M Chahine, AL George Jr, M Zhou, S Ji, W Sun… - Neuron, 1994 - cell.com
Mutations in the adult human skeletal muscle Na+ channel a subunit cause the disease
paramyotonia congenita. Two paramyotonia congenita mutations, R1448H and R1448C …

Genetic neurological channelopathies: molecular genetics and clinical phenotypes

J Spillane, DM Kullmann, MG Hanna - Journal of Neurology …, 2016 - jnnp.bmj.com
Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …