Associated Papers
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Han JY et al.
Heliyon, 2024
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Chan TY et al.
Heliyon, 2024
38187266 (PubMed )
Supplement: mmc2.xlsx › Summary
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Contractile properties are impaired in congenital myopathies.
Eisum AV et al.
Neuromuscular Disorders : Nmd, 2020
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
30190309 (PubMed )
Supplement: aau2486_pan_sm.pdf
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT et al.
Brain : a Journal of Neurology, 2016
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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