Results 1 to 10 of about 861 (135)

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

Case Report: General Anesthetic Management for Laparoscopic Cholecystectomy in Paramyotonia Congenita

International Journal of Medical Students, 2020
Background: Paramyotonia congenita (PC) is a rare disorder affecting skeletal muscle. Patients with this non-progressive condition experience intermittent episodes of sustained myotonia.
Analise McGreal, Daniel Slagle, Andrew Dickens   +2 more
exaly   +3 more sources

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report [PDF]

Journal of Medical Case Reports
Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney   +6 more
doaj   +2 more sources

Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita [PDF]

Scientific Reports
Myotonia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffness that intensifies in cold environments. These disorders are associated with variants in the SCN4A gene, that encodes the alpha subunit of the ...
Quentin Plumereau, Spencer Lile, Christopher N. Johnson, Mohamed Chahine   +3 more
doaj   +2 more sources

Caesarean Section in a Patient with Paramyotonia Congenita [PDF]

Anaesthesia and Intensive Care, 1998
This case report details spinal anaesthesia for an elective caesarean section in a patient with the rare condition of paramyotonia congenita. There are few case reports of anaesthesia in this condition and none in the Australian anaesthetic literature. This case highlights the need for the avoidance of hypothermia and depolarizing muscle relaxants, the
R F, Grace, V J, Roach
exaly   +3 more sources

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review [PDF]

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
doaj   +2 more sources

Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers [PDF]

Annals of Indian Academy of Neurology
Kamalesh Tayade, Vishakha Ghadi, Dynaneshwar Asole, Haresh Bharote, Anil Venkatachalam   +4 more
doaj   +2 more sources

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Frontiers in Neurology, 2022
Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani, Giovanni Meola, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari   +5 more
doaj   +1 more source

Physical Therapy Interventions and Response to this Treatment in a 13-year-old Female with Paramyotonia Congenita

International Journal of Physiotherapy, 2023
Background: Paramyotonia Congenita (PMC) is a rare genetic disorder that affects the sodium ion pump at the level of muscles, retarding muscular relaxation after activation. Symptoms may include isolated or global muscle stiffness, with or without pain.
Morgan Ricks, Warren Lake, Trent Jackman
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