PubMed (OMIM) for id: 481742

Year	Number of Results
1990	1
1991	3
1992	8
1993	4
1994	4
1995	3
1997	3
1998	1
1999	3
2000	3
2001	3
2003	3
2004	3
2005	1
2024	0

1

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

Hisama FM. Hisama FM. Arch Neurol. 2005 Jan;62(1):135-8. doi: 10.1001/archneur.62.1.135. Arch Neurol. 2005. PMID: 15642860

2

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B. Vicart S, et al. Neurology. 2004 Dec 14;63(11):2120-7. doi: 10.1212/01.wnl.0000145768.09934.ec. Neurology. 2004. PMID: 15596759

3

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

Venance SL, Jurkat-Rott K, Lehmann-Horn F, Tawil R. Venance SL, et al. Neurology. 2004 Nov 23;63(10):1977. doi: 10.1212/01.wnl.0000143068.99794.5b. Neurology. 2004. PMID: 15557532 Review. No abstract available.

4

Correlating phenotype and genotype in the periodic paralyses.

Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Miller TM, et al. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00. Neurology. 2004. PMID: 15534250

5

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.

Sugiura Y, Makita N, Li L, Noble PJ, Kimura J, Kumagai Y, Soeda T, Yamamoto T. Sugiura Y, et al. Neurology. 2003 Oct 14;61(7):914-8. doi: 10.1212/01.wnl.0000086820.54065.a0. Neurology. 2003. PMID: 14557559

6

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Brancati F, et al. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41. doi: 10.1136/jnnp.74.9.1339. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933953 Free PMC article.

7

Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Tsujino A, et al. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23. Proc Natl Acad Sci U S A. 2003. PMID: 12766226 Free PMC article.

8

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

Davies NP, Eunson LH, Samuel M, Hanna MG. Davies NP, et al. Neurology. 2001 Oct 9;57(7):1323-5. doi: 10.1212/wnl.57.7.1323. Neurology. 2001. PMID: 11591859

9

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptácek LJ. Bendahhou S, et al. Ann Neurol. 2001 Sep;50(3):417-20. doi: 10.1002/ana.1144. Ann Neurol. 2001. PMID: 11558801

10

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

Kim J, Hahn Y, Sohn EH, Lee YJ, Yun JH, Kim JM, Chung JH. Kim J, et al. J Neurol Neurosurg Psychiatry. 2001 May;70(5):618-23. doi: 10.1136/jnnp.70.5.618. J Neurol Neurosurg Psychiatry. 2001. PMID: 11309455 Free PMC article.

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