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An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
Yang Hee Park, June Bum Kim |
Clin Exp Pediatr. 2010;53(10):909-912. Published online October 31, 2010 DOI: https://doi.org/10.3345/kjp.2010.53.10.909 |
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel geneSCN4A Hyperkalemic Periodic Paralysis Caused by a Mutation in the
Sodium Channel SCN4A Gene Familial hyperkalemic periodic paralysis caused by ade novomutation in the sodium channel geneSCN4A Hypokalemic paralysis caused by de novo mutation of the Scn4a gene Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene |