- The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis
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Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC
- KMID: 1785751
- J Korean Med Sci.
- 2007 Dec;22(6):946-951.
- doi: 10.3346/jkms.2007.22.6.946
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium... -
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- A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies
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Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
- KMID: 648803
- J Korean Med Sci.
- 2002 Dec;17(6):856-860.
- doi: 10.3346/jkms.2002.17.6.856
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia,... -
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- Gene-to-Gene Interaction between Sodium Channel-Related Genes in Determining the Risk of Antiepileptic Drug Resistance
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Jang SY, Kim MK, Lee KR, Park MS, Kim BC, Cho KH, Lee MC, Kim YS
- KMID: 1794408
- J Korean Med Sci.
- 2009 Feb;24(1):62-68.
- doi: 10.3346/jkms.2009.24.1.62
The pathogenesis of antiepileptic drug (AED) resistance is multifactorial. However, most candidate gene association studies typically assess the effects of candidate genes independently of each other, which is partly because... -
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