Key result
Genetic screening of 15 patients with thyrotoxic hypokalemic periodic paralysis identified the R83H mutation in the KCNE3 gene in one patient, the first genetic defect identified in this disease.
Observational (n=15)
This study identifies the first genetic defect in Thyrotoxic Hypokalemic Periodic Paralysis, specifically the R83H mutation in the KCNE3 gene.
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May aid differential diagnosis of periodic paralyses; leaves open validation in larger cohorts.
Dias‐da‐Silva et al. (2002) conducted an observational in Thyrotoxic Hypokalemic Periodic Paralysis (n=15). KCNE3, CACN1AS, and SCN4A gene mutations was evaluated on Identification of mutations in CACN1AS, SCN4A, and KCNE3 genes. Genetic screening of 15 patients with thyrotoxic hypokalemic periodic paralysis identified the R83H mutation in the KCNE3 gene in one patient, the first genetic defect identified in this disease.
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