Results 31 to 40 of about 1,125 (172)

Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review

Journal of Pediatric Neurosciences, 2013
Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and ...
Rashid Saleem, Gururaj Setty, Arif Khan, Duncan Farrell, Nahin Hussain   +4 more
doaj   +1 more source

Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]

, 1987
To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Ballanyi, Klaus, Lehmann-Horn, Frank, Gerald Küther, Peter Grafe, Klaus Ballanyi, Rüdel, Reinhardt, Kenneth Ricker, Grafe, Peter, Frank Lehmann‐Horn, Küther, Gerald, Ricker, Kenneth, Reinhardt Rüdel   +11 more
core   +1 more source

Treatment of Paramyotonia Congenita with Acetazolamide [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1987
Abstract:Treatment of paramyotonia congenita with acetazolamide has been shown to reduce myotonic symptoms but severe weakness has developed in some patients leading to a recommendation not to use the drug in this disorder. We studied a patient with the characteristic clinical and electrophysiological profile of paramyotonia congenita.
T J, Benstead, P R, Camfield, D B, King
openaire   +2 more sources

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

, 1992
Two polymorphic dinucleotide repeats–one (dGdA) n and one (dGdT) n –have been identified at the SCN4A locus, encoding the α-subunit of the adult skeletal muscle sodium channel.
McKenna-Yasek, Diane, Brown, Robert H, Gusella, James F, Raskind, Wendy, Worthen, Hilary G, Radosavljevic, Danica, Pericak-Vance, Margaret, Bird, Thomas, Arahata, Kiichi, Haines, Jonathan L, Van den Bergh, Peter, Gilchrist, James, McClatchey, Andrea I, Trofatter, James   +13 more
core   +4 more sources

Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Genomics Data, 2015
Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities.
Jinxin Li, Qinghai Huang, Liang Ge, Jing Xu, Xingjuan Shi, Wei Xie, Xiang Liu, Xiangdong Liu   +7 more
doaj   +1 more source

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family [PDF]

, 1994
The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in ...
L. J. Ptacek, V. Sansone, G. Rotondo, G. Meola   +3 more
core   +1 more source

Anesthetic management of a patient with sodium-channel myotonia: a case report

JA Clinical Reports, 2019
Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto, Rei Nishimoto, Yoshikazu Matsuoka, Yoshimasa Takeda, Hiroshi Morimatsu   +4 more
doaj   +1 more source

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

, 2000
Objectives-To characterise the clinical and electrophysiological features and to determine the molecular genetic basis of pure paramyotonia congenita in a previously unreported large Irish kindred.
Mills, K R, Morrison, P J, Davies, N P, Eunson, L H, Gregory, R P, Hanna, M G, Morrison, Patrick   +6 more
core   +1 more source

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

, 2003
The authors describe an Italian kindred with nine individuals affected by hyperkalaemic periodic paralysis associated with paramyotonia congenita (hyperPP/PMC).
VALENTE EM, PIZZUTI A, LOMONACO M, DAVIES NP, SARKOZY A, SWEENEY MG, DALLAPICCOLA B., BRANCATI, Francesco, HANNA MG   +8 more
core   +2 more sources