Results 31 to 40 of about 489,393 (127)

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

“Hashitoxicosis” and possible acquired Gitelman syndrome: dual pathology leading to a catastrophic hypokalemic periodic paralysis

Asian Journal of Internal Medicine
Thyrotoxic periodic paralysis (TPP) is more commonly seen in Graves’ disease. But TPP can occur in any condition leading to a hyperthyroid state. It’s important to identify the underlying aetiology of the thyrotoxic state as the management differs with ...
M. S. N. Padmasiri, W. D. A. Patirana, N. Sivalingham, B. Rathypriya, P. T. D. Harischandra   +4 more
doaj   +1 more source

Thyrotoxic Hypokalemic Periodic Paralysis (THPP): a challenge for the Emergency Medicine physician in Western countries. A case report

Emergency Care Journal, 2012
Thyrotoxic hypokalemic periodic paralysis (THPP) is an endocrine emergency with sudden onset of acute muscle hypo-asthenia associated with severe hypokalemia and normal acid-base balance, due to thyrotoxicosis.
F. Stella, L. Gottardo, M.T. Busetto, S. Pianetti, A. Semplicini   +4 more
doaj   +1 more source

Efficacy of sodium channel blockers in treating myotonia is independent of action potential sodium current block

The Journal of Physiology, Volume 604, Issue 18, Page 7799-7818, 15 September 2026.
Abstract figure legend Contrary to the prevailing view, the therapeutic efficacy of sodium channel blockers in myotonia does not depend on inhibition of the transient sodium current (NaT) responsible for action potentials. In a mouse model of myotonia congenita, effective concentrations of sodium channel blockers did not reduce NaT, but consistently ...
Phil Walker, Brent Foy, Xueyong Wang, Kaylee M. Pham, Jess Myers, Chris Dupont, Samantha Kohli, Adam S. Deardorff, Andrew A. Voss, Mark M. Rich   +9 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits

Evolutionary Applications, Volume 19, Issue 6, June 2026.
ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Ying Lu, Ruoshan Ma, Bo Wang, Jiao Wu, Yuqing Chong, Zhendong Gao, Weidong Deng   +6 more
wiley   +1 more source

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

, 1991
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level.
Lathrop, GM, Beckmann, JS, Ting-Passador, SS, Kallen, R. G., Hudson, A. J., Kallen, RG, Brown, WF, Campbell, R. D., George, AL, Hahn, AF, Ebers, G. C., Lathrop, G. M., Ebers, GC, Ting-Passador, S. S., Hahn, A. F., George, A. L., Brown, W. F., Ebers, George, Campbell, RD, Barchi, R. L., Beckmann, J. S., Barchi, RL   +21 more
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, Volume 9, Issue 5, Page 898-913, May 2026.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Pathophysiological role of omega pore current in channelopathies

Frontiers in Pharmacology, 2012
In voltage-gated cation channels, a recurrent pattern for mutations is the neutralization of positively charged residues in the voltage-sensing S4 transmembrane segments.
Karin eJurkat-Rott, James Richard Groome, Frank eLehmann-Horn   +2 more
doaj   +1 more source

Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes.
Claudius S. Mathy, Lena V. Gast, Christian Holtzhausen, Teresa Gerhalter, Christoph Stuprich, Matthias Türk, Rafael Heiss, Benjamin Marty, Frederik B. Laun, Julia V. Wanschitz, Simon Hametner, Arnd Dörfler, Michael Uder, Tobias Bäuerle, Armin M. Nagel, Rolf Schröder   +15 more
wiley   +1 more source