Results 71 to 80 of about 1,313 (165)

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj  

Practical aspects in the management of hypokalemic periodic paralysis [PDF]

, 2008
Management considerations in hypokalemic periodic paralysis include accurate diagnosis, potassium dosage for acute attacks, choice of diuretic for prophylaxis, identification of triggers, creating a safe physical environment, peri-operative measures, and
BD Rose, CL Marchant, F Lehmann-Horn, H Lerche, Jacob O Levitt, JB Kim, JE Robinson, K Ricker, KE Paisley, LJ Ptacek, N Monnier, R Heine, R Rudel, R Tawil, R Tawil, RC Griggs, SL Venance, SL Venance, Staff Editorial, TM Miller, Z Liu   +20 more
core   +3 more sources

Improving genetic diagnostics of skeletal muscle channelopathies [PDF]

, 2020
Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Hanna, MG, Mannikko, R, Matthews, E, Vivekanandam, V   +3 more
core  

Voltage-gated sodium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database [PDF]

, 2019
Sodium channels are voltage-gated sodium-selective ion channels present in the membrane of most excitable cells. Sodium channels comprise of one pore-forming α subunit, which may be associated with either one or two β subunits [176].
Catterall, William A., Goldin, Alan L., Waxman, Stephen G.   +2 more
core   +2 more sources

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis [PDF]

, 2020
OBJECTIVE: Hypokalaemic periodic paralysis (HypoPP) is caused by mutations of Cav1.1, and Na_{v}1.4 which result in an aberrant gating pore current. Hyperkalaemic periodic paralysis (HyperPP) is due to a gain-of-function mutation of the main alpha pore ...
Bostock, H, Hanna, MG, Matthews, E, Männikkö, R, Suetterlin, K, Tan, SV   +5 more
core  

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

Probing the outer vestibule of a sodium channel voltage sensor [PDF]

, 1997
The second and third basic residues of the S4 segment of domain 4 (D4:R2 and D4:R3) of the human skeletal muscle Na+ channel are known to be translocated from a cytoplasmic to an extracellular position during depolarization. Accessibilities of individual
Yang, N., George, A.L., Horn, R.
core   +1 more source

Skeletal muscle channelopathies: a guide to diagnosis and management [PDF]

, 2021
Skeletal muscle channelopathies are a group of rare episodic genetic disorders comprising the periodic paralyses and the non-dystrophic myotonias.
Fialho, D, Holmes, S, Matthews, E
core  

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Molecular genetics of skeletal muscle channelopathies [PDF]

Kubota T., Takahashi M.P.. Molecular genetics of skeletal muscle channelopathies. Journal of Human Genetics (2025); https://doi.org/10.1038/s10038-025-01370-w.Skeletal muscle channelopathies are genetic disorders associated with variants in genes ...
Kubota, Tomoya, Takahashi, Masanori P.
core   +1 more source