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scn9a
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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...- Hoopoe
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- dysautonomia orthostatic intolerance scn9a sfn small fiber neuropathy
- Replies: 6
- Forum: Laboratory and genetic testing, medical imaging
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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...- SNT Gatchaman
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- chronic pain epidermis micro-rna mir-30 pain scn9a skin skin biopsy small fiber neuropathy
- Replies: 3
- Forum: 'Conditions related to ME/CFS' news and research
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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
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- 2020 case report genetics kelly oaklander paper scn9a small fiber neuropathy
- Replies: 0
- Forum: ME/CFS research