Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental abnormalities: a new syndrome? Acta Pediatr Scand 1971;60:559–564.

 

Becker PE. Myotonia congenita and syndromes associated with myotonia. Stuttgart: Thieme; 1977.

 

Bendheim PE, Reale EO, Berg BO. ß-Adrenergic treatment of hyperkalemic periodic paralysis. Neurology 1985;35:746–749.

 

Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol 2001;50:417–420.

 

Bernick C. Familial hypokalemic periodic paralysis. Muscle and Nerve 1988;11:1092–1095.

 

Cannon SC. Sodium channel defects in myotonia and periodic paralysis. Annu Rev Neurosci 1996;19:141–164.

 

Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromusc Disord 2002;12:533–543.

 

Cannon SC. Pathomechanisms in channelopathies of skeletal muscle and brain. Ann Rev Neurosci 2006;387-415.

 

Chun TU, Epstein MR, Dick MII, Andelfinger G, Ballester l, Vanoye CG, George AL, Benson DW. Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm 2004;235-241.

 

Confavreux C, Garassus P, Vighetto A, Aimard G. Familial hypokalemic periodic paralysis: Prevention of paralytic attacks with lithium gluconate. J Neurol Neurosurg Psych 1991;54:87–91.

 

Dalakas MC, Engel WK. Treatment of »permanent« muscle weakness in familial hypokalemic periodic paralysis. Muscle and Nerve 1983;6:182–186.

 

De Luca A, Natuzzi F, Lentini G, Franchini C, Tortorella V, Camerino DC. Stereoselective effects of mexiletine enantiomers on sodium currents and excitability characteristics of adult skeletal muscle fibers. Naunyn Schmiedebergs Arch Pharmacol 1995;352:653–661.

 

Fouad G, Dalakas M, Servidei S, Mendell JR, van den Berg P, Angelini C, et al. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromusc Disord 1997;7:33–38.

 

George AL, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993;3:305–310.

 

Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis. Ann Int Med 1970;73:39–48

 

Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993;2:1349–1353.

 

Heine R, George AL, Jr., Pika U, Deymeer F, Rüdel R, Lehmann-Horn F. Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet 1994;3:1123–1128.

 

Hudson AJ, Ebers GC, Bulman DE. The skeletal muscle sodium and chloride channel diseases. Brain 1995;118:547–563.

 

Iaizzo PA, Quasthoff S, Lehmann-Horn F. Differential diagnosis of periodic paralysis aided by in vitro myography. Neuromuscul Disord 1995;5:115–124.

 

Johnsen T. Trial of the prophylactic effect of diazoxide in the treatment of familial periodic hypokalemia. Acta Neurol Scand 1977;56:525–532.

 

Jurkat-Rott K, Lehmann-Horn F. Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. Neurotherapeutics 2007;4:216-224.

 

Jurkat-Rott K, Lehmann-Horn F. Muscle channelopathies and critical points in functional and genetic studies. J Clin Invest 2005;115:2000–2009.

 

Jurkat-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002;249:1493–1502.

 

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmenkin A, Iaizzo P, Herzog J et al. Voltage sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 2000;97:9549–9554.

 

Kiefer R, Junker J, Eckardt L, Haverkamp W. Erfolgreiche Behandlung einer Patientin mit Andersen-Syndrom mit Amiodaron und Acetazolamid. Akt Neurol 2000;27:98.

 

Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797–800.

 

Koch MC, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, et al. Evidence for genetic homogeneity in autosomal recessive alpha-1S subunit as expressed in mouse L cells. FEBS Lett 1993;382:244–248.

 

Kuzmenkin A, Muncan V, Jurkat-Rott K, Hang C, Lerche H, Lehmann-Horn F, Mitrovic N. Enhanced acitvation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II. Brain 2002;125:835–843.

 

Lehmann-Horn F, Rüdel R, Jurkat-Rott K. Nondystrophic myotonias and periodic paralysis. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill; 2004. p. 1257–1300.

 

Lehmann-Horn F, Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev 1999;79:1317–1372.

 

Lehmann-Horn F, Sipos I, Jurkat-Rott K, Heine R, Brinkmeier H, Fontaine B et al. Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels. Soc Gen Physiol Ser 1995;50:101–113.

 

Lerche H, Heine R, Pika U, George AL, Mitrovic N, Browatzki M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol (Lond) 1993;470:13–22.

 

Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F. Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol 1996;39:599–608.

 

Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33–43.

 

Meyer-Kleine C, Ricker K, Otto M, Koch MC. A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker). Hum Mol Genet 1994;3:1015–1016.

 

Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 2004;63:1647–1655.

 

Mitrovic N, George AL, Jr., Heine R, Wagner S, Pika U, Hartlaub U, et al. K+-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. J Physiol (Lond) 1994;478:395–402.

 

Munsat TL. Therapy of myotonia. A double-blind evaluation of diphenylhydantoin, procainamide, and placebo. Neurology 1967;17:359–367.

 

Plassart E, Elbaz A, Santos JV, Reboul J, Lapie P, Chauveau D, et al. Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Hum Genet 1994;94:551–556.

 

Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bandahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511–519.

 

Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994; 44:1500–1503.

 

Pusch M, Steinmeyer K, Koch MC, Jentsch TJ. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 1995;15:1455–1463.

 

Ricker K, Moxley RT, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095–1102.

 

Ricker K. Muscle ion channel myotonia. In: Neurological disorders. Course and treatment. Brandt T., Caplan, R., Dichgans, J., Diener, H.C., Kennard, C. (eds.), Elsevier 2003.

 

Riggs JE, Moxley RT, Griggs RC, Horner FA. Hyperkalemic periodic paralysis: an apparent sporadic case. Neurology 1981;31:1157–1159.

 

Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr: A Met-to-Val mutation in the skeletal muscle Na+ channel a-subunit in hyperkalaemic periodic paralysis. Nature 1991;354:387-389.

 

Schneider-Gold C, Meinck, HM, Lehmann-Horn F. Myotone Dystrophien und nichtdystrophe Myotonien. In: Diener HC, Hacke W, Hrsg. Leitlinien für Diagnostik und Therapie in der Neurologie. Stuttgart: Thieme; 2005. www.dgn.org.

 

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, et al. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091–1099.

 

Streeten DH, Dalakos TG, Fellerman H. Studies on hyperkalemic periodic paralysis. Evidence of changes in plasma Na and Cl and induction of paralysis by adrenal glucocorticoids. J Clin Invest 1971;50:142–155.

 

Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994;35:326–330.

 

Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, et al. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol 2000;47:46–53.

 

Van der Meulen JP, Gilbert GJ, Kane CA. Familial hyperkalemic paralysis with myotonia. New Engl J Med 1961;64:16.

 

Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC and the CINCH investigators. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006;8-17.

 

Wang P, Clausen T. Treatment of attacks in hyperkalemic familial periodic paralysis by inhalation of salbutamol. Lancet 1976;2:221–223.