periodic paralysis
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Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: , 2025, Barrachina-Esteve et al
Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families Abstract This study describes five families (14 individuals) with hypokalemic periodic paralysis carrying a heterozygous pathogenic...- Hutan
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- cacna1s periodic paralysis scn4a
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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...- duncan
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- cacna1 calcium periodic paralysis scn9a sodium
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Public A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity ... (2018) Ghovanloo et al
https://www.nature.com/articles/s41598-018-24719-y?error=cookies_not_supported&code=554d6e4e-4ccb-4a3b-ad68-7e0d9778f13b- merylg
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- periodic paralysis
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- Forum: Other health news and research