Results 21 to 30 of about 489,393 (127)

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

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature

Italian Journal of Pediatrics, 2022
Background Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic ...
Maria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, Flaminia Pugnaloni, Massimiliano Corsino, Melania Evangelisti, Maria Cecilia D’Asdia, Giovanni Di Nardo, Matteo Garibaldi, Gianluca Terrin, Pasquale Parisi   +10 more
doaj   +1 more source

Enhancement of K+ conductance improves in vitro the contraction force of skeletal muscle in hypokalemic periodic paralysis [PDF]

, 1990
An abnormal ratio between Na+ and K+ conductances seems to be the cause for the depolarization and paralysis of skeletal muscle in primary hypokalemic periodic paralysis.
Quasthoff, Stefan, Lehmann-Horn, Frank, Strupp, Michael, Grafe, Peter, Frank Lehmann-Horn, Peter Grafe, Stefan Quasthoff, Michael Strupp   +7 more
core   +1 more source

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review

Brain Sciences, 2022
Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these
Chiara Brusa, Giulio Gadaleta, Rossella D’Alessandro, Guido Urbano, Martina Vacchetti, Chiara Davico, Benedetto Vitiello, Federica S. Ricci, Tiziana E. Mongini   +8 more
doaj   +1 more source

A Case of Hypokalemic Periodic Paralysis in a Young Athlete.

, 2021
Hypokalemic periodic paralysis (HPP) is one of the group muscle disorders that can cause sudden onset paresis or paralysis. It is a quite rare, yet, potentially life-threatening condition that, if appropriately and promptly diagnosed and treated, can be ...
Nasser, Hesham, Hasan, Syed Mustajab, Abdelmasih, Randa, Abdelmaseih, Ramy   +3 more
core   +1 more source

Changes in intracellular ion activities induced by adrenaline in human and rat skeletal muscle [PDF]

, 1988
To study the stimulating effect of adrenaline (ADR) on active Na+/K+ transport we used double-barrelled ion-sensitive micro-electrodes to measure the activities of extracellular K+ (aKe) and intracellular Na+ (aNai) in isolated preparations of rat soleus
Ballanyi, Klaus, Grafe, Peter
core   +1 more source

Suspected hyperkalemic periodic paralysis with myotonia in Shi Tzu and German Shepherds dogs [PDF]

, 2018
En los humanos, las canalopatías del músculo esquelético son entidades de base genética y de incidencia muy baja. En relación al canal de sodio en particular, las diferentes mutaciones SCN4A pueden dar lugar a diversos fenotipos que van
Pellegrino, Fernando Carlos
core   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Treatment for periodic paralysis [PDF]

, 2008
Background Primary periodic paralyses are rare inherited muscle diseases characterised by episodes of flaccid weakness affecting one or more limbs, lasting several hours to several days, caused by mutations in skeletal muscle channel genes.
Meola, G., M. R. Rose, Rose, M. R., V. Sansone, Panzeri, M., M. Panzeri, G. Meola, Sansone, Valeria, Links, T. P., T. Links   +9 more
core   +2 more sources

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

European Journal of Histochemistry, 2009
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola, V Sansone, G Rotondo, E Mancinelli   +3 more
doaj   +1 more source