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, FuYH, Ptácek LJ. Correlating phenotype and genotype in the periodic paralyses.Neurology. 2004 Nov 9;63(9):1647-55.
Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermiasusceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor inskeletal muscle. Am J Hum Genet. 1997 Jun;60(6):1316-25.
Rosenberg H, Sambuughin N, Riazi S, Dirksen R. Malignant HyperthermiaSusceptibility. 2003 Dec 19 [updated 2020 Jan 16]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1146/
Stewart SL, Hogan K, Rosenberg H, Fletcher JE. Identification of theArg1086His mutation in the alpha subunit of the voltage-dependent calcium channel(CACNA1S) in a North American family with malignant hyperthermia. Clin Genet.2001 Mar;59(3):178-84.
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ,Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators. The primary periodicparalyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan;129(Pt 1):8-17.
Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, Li W, Wu X, Wang X, Liu P, Zhang X,Zhu J, Ren X, Ke T, Wang Q, Yang J. Novel CACNA1S mutation causes autosomaldominant hypokalemic periodic paralysis in a Chinese family. J Mol Med (Berl).2005 Mar;83(3):203-8.
Weber F, Lehmann-Horn F. Hypokalemic Periodic Paralysis. 2002 Apr 30 [updated 2018 Jul 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1338/
Yamakage M, Namiki A. Calcium channels--basic aspects of their structure,function and gene encoding; anesthetic action on the channels--a review. Can JAnaesth. 2002 Feb;49(2):151-64. Review.
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