scn9a

  1. D

    Periodic Paralysis Across the Life Course: Age-related Phenotype transition and sarcopenia overlap, 2024, Suetterlin et al

    Interesting study that explores RYR1 gene variations and their import to things like muscle weakness and ATP and mitochondrial function, and how these change with age in healthy individuals vs those with channelopathies. RYR1 variations have been tied into ME/CFS before. This study parses down...
  2. Hoopoe

    SCN9A variant and dysautonomia

    A clinical geneticist believes that a rare variant in the SCN9A gene could be responsible for at least a part of my symptoms. The variant is extremely rare (1 in 1.4 million alleles) and not found in healthy people. The gene is associated with small fibre neuropathy which would fit, but there...
  3. SNT Gatchaman

    Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy, 2022, Andelic et al.

    Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy Andelic, Mirna; Salvi, Erika; Marcuzzo, Stefania; Marchi, Margherita; Lombardi, Raffaella; Cartelli, Daniele; Cazzato, Daniele; Mehmeti, Elkadia; Gelemanovic, Andrea; Paolini, Matilde; Pardo...
  4. Andy

    Case report: Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants, 2020, Kelly and Oaklander

    Open access, https://www.tandfonline.com/doi/full/10.1080/24740527.2020.1712652
    • Andy
    • Thread
    • 2020 case report genetics kelly oaklander paper scn9a small fiber neuropathy
    • Replies: 0
    • Forum: ME/CFS research
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