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 …

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels

W Huang, M Liu, SF Yan, N Yan - Protein & cell, 2017 - academic.oup.com
Voltage-gated sodium (Nav) channels are essential for the rapid upstroke of action
potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav …

[HTML][HTML] Dysfunction of NaV1. 4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

R Männikkö, L Wong, DJ Tester, MG Thor, R Sud… - The Lancet, 2018 - thelancet.com
Background Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal
infant death in high-income countries. Central respiratory system dysfunction seems to …

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek… - Brain, 2016 - academic.oup.com
Abstract See Cannon (doi: 10.1093/brain/awv400) for a scientific commentary on this article.
Congenital myopathies are a clinically and genetically heterogeneous group of muscle …

Periodic paralysis

D Fialho, RC Griggs, E Matthews - Handbook of clinical neurology, 2018 - Elsevier
The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by
intermittent attacks of muscle weakness often associated with altered serum potassium …

Targeted therapies for skeletal muscle ion channelopathies: systematic review and steps towards precision medicine

JF Desaphy, C Altamura, S Vicart… - Journal of …, 2021 - content.iospress.com
Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …

Skeletal muscle sodium channelopathies

S Nicole, B Fontaine - Current Opinion in Neurology, 2015 - journals.lww.com
Skeletal muscle sodium channelopathies : Current Opinion in Neurology Skeletal muscle
sodium channelopathies : Current Opinion in Neurology Log in or Register Subscribe to …

MyoV: a deep learning-based tool for the automated quantification of muscle fibers

S Gu, C Wen, Z Xiao, Q Huang, Z Jiang… - Briefings in …, 2024 - academic.oup.com
Accurate approaches for quantifying muscle fibers are essential in biomedical research and
meat production. In this study, we address the limitations of existing approaches for …

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4

S Luo, M Sampedro Castañeda, E Matthews, R Sud… - Scientific reports, 2018 - nature.com
Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel
NaV1. 4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) …

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

S Corrochano, G Blanco, D Williams… - Human molecular …, 2018 - academic.oup.com
Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD).
Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral …