Results 51 to 60 of about 1,313 (165)

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy [PDF]

, 2009
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy.
Bulman, Cannon, Dae-Seong Kim, George, George, Hyang-Sook Kim, Kyu-Hyun Park, Lerche, McClatchey, McClatchey, Mitrović, Moon, Orrell, Plassart, Ptacek, Ptácek, Rosenfeld, Rüdel, Sang-Chan Lee, Schoser, Stenson, Trip, Tsujino, Wu, Yeong-Eun Park, Young-Chul Choi   +25 more
core   +2 more sources

Voltage-gated sodium channels (NaV) in GtoPdb v.2023.1 [PDF]

, 2023
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 [179].
Catterall, William A., Goldin, Alan L., Waxman, Stephen G.   +2 more
core   +2 more sources

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg, Kristin Allergodt, Annette Mahoney, Ann-Lisbeth Højberg, Somashekhar Marutirao Nimbalkar   +4 more
wiley   +1 more source

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A [PDF]

, 2011
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia.
Bouhours, Brancati, Feero, HantaÏ, Ji-Yeon Han, June-Bum Kim, Jurkat-Rott, Kim, Lehmann-Horn, Lehmann-Horn, Lehmann-Horn, Miller, Okuda, Park, Paternostro-Sluga, Ptácek, Ricker   +16 more
core   +2 more sources

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis, Maria Svingou, Giorgos‐Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger‐Synodinos, Kyriaki Kekou   +12 more
wiley   +1 more source

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]

, 1996
Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core  

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A [PDF]

Annals of Child Neurology, 2022
Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
doaj   +1 more source

Contractile properties and magnetic resonance imaging‐assessed fat replacement of muscles in myotonia congenita

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, Mads Godtfeldt Stemmerik, Sofie Vinther Skriver, Jonas Jalili Pedersen, Nicoline Løkken, John Vissing   +5 more
wiley   +1 more source