Associated Papers
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
Living on the Rocks: Genomic Analysis of Limestone Langurs Provides Novel Insights into the Adaptive Evolution in Extreme Karst Environments.
Liu Z et al.
Genomics, Proteomics & Bioinformatics, 2025
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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.
Berghold VM et al.
Frontiers in Pediatrics, 2022
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
Luo S et al.
Scientific Reports, 2018
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.
Poulin H et al.
Scientific Reports, 2018
Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handbook of Experimental Pharmacology, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M et al.
Neuromuscular Disorders : Nmd, 2017
Congenital myasthenic syndromes: recent advances.
Beeson D
Current Opinion in Neurology, 2016
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.
Wu F et al.
Brain : a Journal of Neurology, 2016
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K et al.
Neurology, 2016