Associated Papers
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.
Periviita V et al.
European Journal of Neurology, 2025
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V et al.
Journal of Neurology, 2024
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C et al.
Journal of Neuromuscular Diseases, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón MJ et al.
Neuromuscular Disorders : Nmd, 2012
Homozygosity for dominant mutations increases severity of muscle channelopathies.
Arzel-Hézode M et al.
Muscle & Nerve, 2010
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 2006
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