European Journal of Neurology, Volume 31, Issue 4, April 2024.Abstract Background and purpose Myotonia congenita (MC) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel Gene (CLCN1) cause myotonia. This study used muscle magnetic resonance imaging (MRI) to quantify contractile properties and fat replacement of muscles in a Danish cohort of MC patients. Methods Individuals
Laura Nørager Jacobsen +5 more
wiley +1 more source
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
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations [PDF]
, 2021 Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin.
Hanna, MG +14 more
core
Revisión bibliográfica sobre la paramiotonía congénita [PDF]
, 2013 Introducción. La paramiotonía congénita es una infrecuente patología muscular hereditaria cuyos síntomas principales son la miotonía no distrófica y los periodos de paresia/parálisis.
Guirao Martínez, Sebastián
core +1 more source
Guidelines on clinical presentation and management of non-dystrophic myotonias [PDF]
, 2020 The non‐dystrophic myotonias (NDMs) are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene.
Arnold, WD +14 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. +2 more
core +2 more sources
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]
, 2006 MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W +2 more
core +1 more source
Treatment Updates for Neuromuscular Channelopathies [PDF]
, 2020 Purpose of review: This article aims to review the current and upcoming treatment options of primary muscle channelopathies including the non-dystrophic myotonias and periodic paralyses.
Fialho, D, Jitpimolmard, N, Matthews, E
core
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 [PDF]
, 1996 Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We characterized a brain- specific P/Q-type Ca2+ channel α1-subunit gene, CACNLIA4, covering 300 kb with 47 exons.
Bulman, B. +15 more
core +1 more source
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 +2 more
doaj