Genes > SCN4A >

References

These sources were used to develop the Genetics Home Reference gene summary on the SCN4A gene.

Bradley, W G((Walter George)); Neurology in clinical practice; 4th ed.; Philadelphia, PA : Butterworth-Heinemann, c2004. p1850-1856.
Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. Epub 2006 Jul 28. PubMed citation
Colding-Jørgensen E, Duno M, Vissing J. Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006 Jul 11;67(1):153-5. PubMed citation
Dice MS, Abbruzzese JL, Wheeler JT, Groome JR, Fujimoto E, Ruben PC. Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. Muscle Nerve. 2004 Sep;30(3):277-88. PubMed citation
Entrez Gene
Gene Review: Hyperkalemic Periodic Paralysis Type 1
Gene Review: Hypokalemic Periodic Paralysis
Groome JR, Fujimoto E, Ruben PC. K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels. Cell Mol Neurobiol. 2005 Nov;25(7):1075-92. PubMed citation
Hantaï D, Richard P, Koenig J, Eymard B. Congenital myasthenic syndromes. Curr Opin Neurol. 2004 Oct;17(5):539-51. Review. PubMed citation
Lehmann-Horn F, Jurkat-Rott K, Rüdel R. Periodic paralysis: understanding channelopathies. Curr Neurol Neurosci Rep. 2002 Jan;2(1):61-9. Review. PubMed citation
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. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9;63(9):1647-55. PubMed citation
Tamaoka A. Paramyotonia congenita and skeletal sodium channelopathy. Intern Med. 2003 Sep;42(9):769-70. PubMed citation
Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23. PubMed citation
Vicart S, Sternberg D, Fontaine B, Meola G. Human skeletal muscle sodium channelopathies. Neurol Sci. 2005 Oct;26(4):194-202. Review. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources