Sodium channelopathies of skeletal muscle and brain

M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

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 …

[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 …

[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 …

[HTML][HTML] Structure and function of voltage-gated sodium channels

E Marban, T Yamagishi, GF Tomaselli - The Journal of physiology, 1998 - ncbi.nlm.nih.gov
Structure and function of voltage-gated sodium channels - PMC Back to Top Skip to main
content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …

Sodium channel inactivation: molecular determinants and modulation

W Ulbricht - Physiological reviews, 2005 - journals.physiology.org
Voltage-gated sodium channels open (activate) when the membrane is depolarized and
close on repolarization (deactivate) but also on continuing depolarization by a process …

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 …

Ion channels in presynaptic nerve terminals and control of transmitter release

A Meir, S Ginsburg, A Butkevich… - Physiological …, 1999 - journals.physiology.org
The primary function of the presynaptic nerve terminal is to release transmitter quanta and
thus activate the postsynaptic target cell. In almost every step leading to the release of …

Functional consequences of mutations in the human α1A calcium channel subunit linked to familial hemiplegic migraine

M Hans, S Luvisetto, ME Williams… - Journal of …, 1999 - Soc Neuroscience
Mutations in α1A, the pore-forming subunit of P/Q-type calcium channels, are linked to
several human diseases, including familial hemiplegic migraine (FHM). We introduced the …

Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies

YY Vilin, PC Ruben - Cell biochemistry and biophysics, 2001 - Springer
Slow inactivation in voltage-gated sodium channels is a biophysical process that governs
the availability of sodium channels over extended periods of time. Slow inactivation …