Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene $SCN4A$

  • Park, Yang-Hee (Department of Pediatrics, Konyang University College of Medicine) ;
  • Kim, June-Bum (Department of Pediatrics, Konyang University College of Medicine)
  • 투고 : 2010.06.29
  • 심사 : 2010.09.15
  • 발행 : 2010.10.15
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초록

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene $SCN4A$, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.

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참고문헌

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피인용 문헌

  1. Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A vol.54, pp.11, 2010, https://doi.org/10.3345/kjp.2011.54.11.470
  2. Normokalemic periodic paralysis is not a distinct disease vol.46, pp.6, 2010, https://doi.org/10.1002/mus.23441
  3. Cloning and expression of the two new variants of Nav1.5/SCN5A in rat brain vol.365, pp.1, 2010, https://doi.org/10.1007/s11010-012-1253-7
  4. The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis vol.57, pp.10, 2014, https://doi.org/10.3345/kjp.2014.57.10.445
  5. Gating pore currents are defects in common with two Na v 1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy vol.145, pp.2, 2010, https://doi.org/10.1085/jgp.201411304
  6. Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis vol.12, pp.4, 2010, https://doi.org/10.3892/mmr.2015.4201
  7. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita : NaV1.4 defect in PMC vol.595, pp.22, 2010, https://doi.org/10.1113/jp274877
  8. Na V 1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers vol.8, pp.None, 2018, https://doi.org/10.1038/s41598-018-28594-5