Results 41 to 50 of about 2,332 (142)

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.
Zhao, C, Lu, J, Hanna, MG, Suetterlin, KJ, Luo, S, Song, J, Xi, J, Männikkö, R, Sun, J, Matthews, E, Huang, J, Zhou, L, Qiao, K, Zhu, W   +13 more
core   +1 more source

Kinetic Alterations in Resurgent Sodium Currents of Mutant Na_v1.4 Channel in Two Patients Affected by Paramyotonia Congenita

Biology, 2022
Paramyotonia congenita (PMC) is a rare skeletal muscle disorder characterized by muscle stiffness upon repetitive exercise and cold exposure. PMC was reported to be caused by dominant mutations in the SCN4A gene encoding the α subunit of the Nav1.4 ...
Ming-Jen Lee, Pi-Chen Lin, Ming-Hong Lin, Hsin-Ying Clair Chiou, Kai Wang, Chiung-Wei Huang   +5 more
doaj   +1 more source

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant [PDF]

, 2020
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1 . Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A , is a relatively less frequent but more severe form.
Beytía Reyes, María de los Ángeles, Ávila Smirnow, Daniela, Mellado Sagredo, Cecilia, Lagos Lucero, Marcela, Cortés Zepeda, Rocío, Casar Leturia, Juan Carlos, Sternberg, Damien, Kleinsteuber Saa, Karin, Padilla Pérez, Oslando, Vargas Leal, Carmen, Avaria Benapres, María de los Ángeles, Escobar, Raúl G.   +11 more
core   +1 more source

Possible role of SCN4A skeletal muscle mutation in apnoea during seizure [PDF]

, 2019
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Usluer, S, Sisodiya, SM, Çağlayan, SH, Mannikko, R, Uluç, K, Hanna, MG, Türkdoğan, D, Gündoğdu, A, Matthews, E   +8 more
core   +1 more source

Skeletal Muscle Modulates Huntington’s Disease Pathogenesis in Mice: Role of Physical Exercise

Journal of Experimental Neuroscience, 2018
Huntington’s disease (HD) is a monogenic fatal neurodegenerative disorder. However, there is increasing evidence that HD is a pleiotropic systemic disorder.
Silvia Corrochano, Gonzalo Blanco, Abraham Acevedo-Arozena   +2 more
doaj   +1 more source

Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita

Biomedicines, 2021
Paramyotonia congenita (PMC) is a rare hereditary skeletal muscle disorder. The major symptom, muscle stiffness, is frequently induced by cold exposure and repetitive exercise. Mutations in human SCN4A gene, which encodes the α-subunit of Nav1.4 channel,
Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming-Jen Lee   +3 more
doaj   +1 more source

SCN4A variants and Brugada syndrome: Phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

, 2016
SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome.
Pedro Brugada, Dooren, S. (Sonia) van, Van Malderen, Sophie C. H., Jansen, A.C.M. (Anna), Jansen, AC (Anna), Peeters, U, Peeters, U. (Uschi), Sonia Van Dooren, Keymolen, K, De Keyser, J. (Jacques), Sophie CH Van Malderen, Dorien Daneels, Lissens, J. (Jurgen), Van Dooren, Sonia, Véronique Bissay, Willy Lissens, van Dooren, S, Bissay, V. (Véronique), Anna C Jansen, Rugada, P. (Pedro), Brugada, P, Daneels, Dorien, Malderen, S. (Sophie) van, Keymolen, K. (Kathelijn), Bissay, Veronique, lissens, W, Pappaert, G, Jacques De Keyser, Daneels, D. (Dorien), Peeters, Uschi, Pappaert, G. (Gudrun), Jansen, Anna C., Keymolen, Kathelijn, Lissens, Willy, Uschi Peeters, Pappaert, Gudrun, Gudrun Pappaert, De Keyser, J, Malderen, Sophie, Bissay, V, Brugada, Pedro, Kathelijn Keymolen, De Keyser, Jacques, Daneels, D   +43 more
core   +1 more source

Вродена миотония, обусловена от мутация в SCN4A гена

Българска неврология, 2021
Натриево-каналната вродена миотония е автозомно-доминантно заболяване обусловено от мутации в SCN4A гена, кодиращ NaV1.4 α-субединицата на скелетния мускулен натриев канал, локализиран в хромозома 17q23.1-25.3.6.
Stanislava Blagoeva, T. Chamova, T. Todorov, A. Todorova, M. Gospodinova, I. Tournev   +5 more
doaj  

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, Volume 67, Issue 7, Page 3629-3643, July 2026.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +1 more source