Results 21 to 30 of about 39,732 (154)

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report. [PDF]

Clin Case Rep
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Tamang A, Sapkota P, Humagain S, Dhakal K, Sachdeva C, Shah D, Lamsal P.   +6 more
europepmc   +2 more sources

Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses. [PDF]

Sci Rep, 2018
Mutations in NaV1.4, the skeletal muscle voltage-gated Na+ channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical ...
Poulin H, Gosselin-Badaroudine P, Vicart S, Habbout K, Sternberg D, Giuliano S, Fontaine B, Bendahhou S, Nicole S, Chahine M.   +9 more
europepmc   +2 more sources

Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Dupont C, Deardorff A, Nawaz M, Voss AA, Rich MM.   +4 more
europepmc   +2 more sources

Propofol Reduces Succinylcholine-induced Muscle Rigidity in a Patient with Paramyotonia Congenita.

Anesth Essays Res, 2017
RefeRences 1. Kurdi MS, Theerth KA, Deva RS. Ketamine: Current applications in anesthesia, pain, and critical care. Anesth Essays Res 2014;8:283-90. 2. Robinul (Glycopyrrolate) Drug Information: Clinical Pharmacology.
Elsharydah A, Kaminski AC.
europepmc   +2 more sources

Hypokalemic Paralysis Is Not Always Periodic: A Case Series. [PDF]

Case Rep Med
Potassium is vital for cellular function, particularly in excitable tissues like nerves and muscles, which rely on potassium gradients to function normally. Hypokalemia can lead to severe issues such as muscle weakness and irregular heart rhythms. This case series presents four instances of hypokalemic paralysis, a neuromuscular condition that can be ...
Mohak Jain, Mehta G, Parmar A, Shastri M, Patel S, Gandhi V, Karatela S, Patel A.   +7 more
europepmc   +2 more sources

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P [PDF]

Frontiers in Physiology
IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
François Charles Wang, François Charles Wang, Olivier Bouquiaux, Olivier Bouquiaux, Isabelle Lievens, Bernard Lakaye, Laura Vandries, Margaux Poleur, Samira Abdou Ide, Nurcan Inci, Vincent Seutin   +10 more
doaj   +2 more sources

Paramyotonia Congenita

Definitions, 2020
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when ...
Arthur J. Hudson
semanticscholar   +2 more sources

N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.

Journal of Physiology, 2017
Jin Wang, Fang Ji, Ye Yu
exaly   +2 more sources

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Frontiers in Neurology, 2022
IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Frontiers in Pharmacology, 2021
The voltage-gated sodium channel Nav1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation.
Sophie Nicole, Sophie Nicole, Philippe Lory, Philippe Lory   +3 more
doaj   +1 more source