Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia – a case report [PDF]
BMC Anesthesiology, 2021 Background Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles.
Wei Shyan Siow, Wan-Ling Alyssa Chiew
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Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita [PDF]
Biology, 2022 Paramyotonia congenita (PMC) is a rare skeletal muscle disorder characterized by muscle stiffness upon repetitive exercise and cold exposure. PMC was reported to be caused by dominant mutations in the SCN4A gene encoding the α subunit of the Nav1.4 ...
Ming-Jen Lee +5 more
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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 ReportsBackground Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri +6 more
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Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita [PDF]
Biomedicines, 2021 Paramyotonia congenita (PMC) is a rare hereditary skeletal muscle disorder. The major symptom, muscle stiffness, is frequently induced by cold exposure and repetitive exercise. Mutations in human SCN4A gene, which encodes the α-subunit of Nav1.4 channel,
Chiung-Wei Huang +3 more
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Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita [PDF]
Scientific ReportsMyotonia 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 +3 more
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A case of paramyotonia congenita in pregnancy [PDF]
Obstetric Medicine, 2020 Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle.
Harriet L Robinson, Emily Brooks
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Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review [PDF]
Channels, 2019 Objective: To verify the diagnosis of channelopathies in two families and explore the mechanism of the overlap between periodic paralysis (PP) and paramyotonia congenita (PMC).
Junhong Guo, Xueli Chang
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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 +2 more
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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing [PDF]
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 +7 more
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Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers [PDF]
Annals of Indian Academy of NeurologyKamalesh Tayade +4 more
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