[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 …

The hitchhiker's guide to the voltage-gated sodium channel galaxy

CA Ahern, J Payandeh, F Bosmans… - Journal of General …, 2016 - rupress.org
Eukaryotic voltage-gated sodium (Nav) channels contribute to the rising phase of action
potentials and served as an early muse for biophysicists laying the foundation for our current …

Terahertz wave enhances permeability of the voltage-gated calcium channel

Y Li, C Chang, Z Zhu, L Sun, C Fan - Journal of the American …, 2021 - ACS Publications
A deficiency of Ca2+ fluxes arising from dysfunctional voltage-gated calcium channels has
been associated with a list of calcium channelopathies such as epilepsy, hypokalemic …

The pathophysiological basis of dystonias

XO Breakefield, AJ Blood, Y Li, M Hallett… - Nature Reviews …, 2008 - nature.com
Dystonias comprise a group of movement disorders that are characterized by involuntary
movements and postures. Insight into the nature of neuronal dysfunction has been provided …

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

YG Weber, A Storch, TV Wuttke… - The Journal of …, 2008 - Am Soc Clin Investig
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are
sporadic in nature. The pathophysiology underlying these disorders remains largely …

Gating pore current in an inherited ion channelopathy

S Sokolov, T Scheuer, WA Catterall - Nature, 2007 - nature.com
Ion channelopathies are inherited diseases in which alterations in control of ion
conductance through the central pore of ion channels impair cell function, leading to …

Deconstructing voltage sensor function and pharmacology in sodium channels

F Bosmans, MF Martin-Eauclaire, KJ Swartz - Nature, 2008 - nature.com
Voltage-activated sodium (Nav) channels are crucial for the generation and propagation of
nerve impulses, and as such are widely targeted by toxins and drugs. The four voltage …

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

E Matthews, D Fialho, SV Tan, SL Venance… - Brain, 2010 - academic.oup.com
The non-dystrophic myotonias are an important group of skeletal muscle channelopathies
electrophysiologically characterized by altered membrane excitability. Many distinct clinical …

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 …

From genes to pain: Nav1. 7 and human pain disorders

SD Dib-Hajj, TR Cummins, JA Black… - Trends in neurosciences, 2007 - cell.com
Gain-of-function mutations or dysregulated expression of voltage-gated sodium channels
can produce neuronal hyperexcitability, leading to acute or chronic pain. The sodium …