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Research Resources

The Reading Room contains a collection of articles and abstracts on periodic paralysis and the nondystrophic myotonias, and a number of general reference articles of related interest.

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<center>Spectrum of Altered Muscle Excitability</center><p> The nondystrophic myotonias and familial periodic paralyses lie along a continuum of

Spectrum of Altered Muscle Excitability

The nondystrophic myotonias and familial periodic paralyses lie along a continuum of muscle defects ranging from myotonia only to a combination of myotonia and periodic paralysis to periodic paralysis associated with sever multi-system involvement. All are caused by defects in the coding regions of voltage-gated ion channel genes. See chart below (adopted from Cannon, 2002).

Content Categories: Select a Category Below or Scroll to Navigate List
	Summary Articles on Channelopathies
	Articles on Calcium Channel Disorders (60 - 70% of Hypokpp mutations)
	Articles on Chloride Channel Disorders (Myotonia Congenita)
	Articles on Potassium Channel Disorders (Andersen-Tawil Syndrome)
	Articles on Sodium Channel Disorders (Myotonias & Periodic Paralyses)
	Heart-Related Articles & Resources (Long QT, ATS)
	Articles of Historical Significance
	Unclassified Resources
Summary Articles on Channelopathies
	Voltage-Gated Ion Channels and Hereditary Disease - Frank Lehmann-Horn and Karin Jurkat-Rott - 10/1/1999
	Ion channels and neurologic disorders - K. K. Jain - 12/06/1999
	An expanding view for the molecular basis of familial periodic paralysis - Stephen C. Cannon - 1/18/2002
	Physiologic Principles Underlying Ion Channelopathies - Stephen C. Cannon - April 2007
	Ion Channel related Diseases - Beata Dworakowska and Krzysztof Doowy, July 27, 2000
	Skeletal muscle channelopathies - Karin Jurkat-Rott, Holger Lerche, Frank Lehmann-Horn- 05/21/2002
	Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias - Daniel Platta and Robert Griggs - 2009
	Periodic paralysis: understanding channelopathies - Frank Lehmann-Horn, MD, Karin Jurkat-Rott, MD, and Reinhardt R�del, PhD
	Periodic paralysis - Doreen Fialho and Michael G. Hanna - 2007
	The primary periodic paralyses: diagnosis, pathogenesis and treatment - S. L. Venance, S. C. Cannon, D. Fialho, B. Fontaine, et al - 2006
	Treatment of Neuromuscular Channelopathies - James C. Cleland and Robert C. Griggs-10/01/2008
	Ion Channel pharmacology - Diana Conte Camerino, Domenico Tricarico, and Jean-Francois Desaphy - April 2007
	Neurological channelopathies: new insights into disease mechanisms and ion channel function - Dimitri M Kullmann and Stephen G Waxman
	Channels and Disease: Past, Present, and Future - L. J. Ptacek and Ying-Hui Fu - 11/2004
Articles on Calcium Channel Disorders (60 - 70% of Hypokpp mutations)
	Calcium channelopathies - Benatar MG., March, 1999
	COOH-terminal Truncated Alpha 1-s Subunits Conduct Current Better than Full-length Dihydropyridine Receptors - James A. Morrill and Stephen C. Cannon - 9/1/2000
	Hypokalemic Periodic Paralysis - Damien Sternberg, MD, PhD, Nacira Tabti, MD, PhD, Bertrand Fontaine, MD, PhD, et al - 10/31/2009
	Hypokalemic Periodic Paralysis: A Model for a Clinical and Research Approach to a Rare Disorder - Bertrand Fontaine, Emmanuel Fournier, et al - 7/2/2007
	Hypokalemic periodic paralysis - an owners manual - Michael M. Segal, Karin Jurkat-Rott, Jacob Levitt, Frank Lehmann-Horn - 6/5/2009
	Hypokalemic Periodic Paralysis and the Dihydropyridine Receptor (CACNLI A3) - A. Elbaz, J. Vale-Santos, K. Jurkat-Rott, P. Lapie, R. A. Ophoff, B. Bady, et al - 10/26/1994
Articles on Potassium Channel Disorders
	Andersens Syndrome: Cause of Rare Genetic Disorder Points to Faulty Ion Channel - Louis J. Ptacek - 5/18/2001
	Andersen-Tawil Syndrome - Rabi Tawil, Shannon L Venance - 3/19/2007
	Cause of Rare Genetic Disorder Points to Faulty Ion Channel
	Defective potassium channel Kir2.1 trafficking underlies andersen-tawil syndrome. - Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptacek LJ. - 10/19/2003
	Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) - Martin Tristani-Firouzi, Judy L. Jensen, et al - 08/2002
	Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen�s syndrome - Regina Preisig-Muller, Gunter Schlichthorl, Tobias Goerge, Steffen Heinen, Andrea Brugge, et al - 3/22/2002
	Lack of association of the potassium channel�associated peptide MiRP2-R83H variant with periodic paralysis - D. Sternberg, MD, PhD; N. Tabti, MD, PhD; E. Fournier, MD; B. Hainque, PhD; and B. Fontaine, MD, PhD
	Management and Treatment of Andersen-Tawil Syndrome (ATS)
	Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen�s Syndrome - Nikki M. Plaster, Rabi Tawil, et al - 10/5/2003
	A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis - Magnus R. Dias Da Silva, Janete M. Cerutti, Liliane A. T. Arnaldi and Rui M. B. Maciel - 08/15/2002
	A missense mutation in the Kv1.1 voltage-gated potassium channel�encoding geneKCNA1 is linked to human autosomal dominant hypomagnesemia - Bob Glaudemans, Jenny van der Wijst, Rosana H. Scola, et al - April 2009
	K-dependent paradoxical membrane depolarization and Na overload, major and reversible contributors to weakness by ion channel leaks - Karin Jurkat-Rotta, Marc-Andre Weberb, Michael Faulera, et al - 01/12/2009
	Mechanisms underlying Andersen�s syndrome pathology in skeletal muscle are revealed in human myotubes - Sacconi S., Simkin D., Arrighi N., Chapon F., et al - July 1, 2009
	The Biophysical and Pharmacological Characteristics of Skeletal Muscle ATP-Sensitive K Channels Are Modified in K-Depleted Rat, an Animal Model of Hypokalemic Periodic Paralysis - DOMENICO TRICARICO, SABATA PIERNO, ROSANNA MALLAMACI, et al - March 16, 1998
	Andersens Syndrome: A Distinct Periodic Paralysis - 1997
Articles on Chloride Channel Disorders
	Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia - Christof Meyer-Kleine, Klaus Steinmeyer, Kenneth Ricker, Thomas J. Jentsch, M. C. Koch - 8/24/1995
	New classification and treatment for myotonic disorders - Teruyuki Kurihara - 10/01/2005
	Chloride Channels a state of flux - Miguel Valverde, Simon Hardy, Francisco Sepulveda - 04/01/1995
	Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita - Jia Zhang, Said Benahhou, Michael C. Sanguinetti, and Louis J. Ptacek - 02/2000
	A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. - CHRISTOPH FAHLKE, CAROL L. BECK, AND ALFRED L. GEORGE, JR - 03/1997
	A novel alteration of muscle chloride channel gating in myotonia levior - Aisling Ryan, Reinhardt R�del, Maya Kuchenbecker and Christoph Fahlke - 09/20/2002
	Linkage of Thomsen Disease to the T-Cell-Receptor Beta (TCRB) Locus on Chromosome 7q35 - J. A. Abdalla, W. L. Casley, H. K. Cousin, et al - 1992
	Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker) - Manuela C Koch, Kenneth Ricker, Michael Otto, Friedrich Wolf, Barbara Zoll, et al - 6/3/1993
	Novel CLCN1 mutations with unique clinical and electrophysiological consequences - Fen-Fen Wu, Aisling Ryan, Joseph Devaney, et al - 6/16/2002
	ClC-1 chloride channel mutations in myotonia congenita - Christian Kubisch, Thomas Schmidt-Rose, Bertrand Fontaine, et al - 7/16/98
	Molecular Structure and Physiological Function of Chloride Channels - THOMAS J. JENTSCH, VALENTIN STEIN, FRANK WEINREICH, AND ANSELM A. ZDEBIK - April, 2002
Articles on Sodium Channel Disorders
	Adynamia Episodica Hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH - Frank Lehman-Horn, Gerald Kuther, Kenneth Ricker, Peter Grafe, Klaus Ballanyi, R. Rudel - 01/01/1987
	Mutant channels contribute less than 50 percent to Na+ current in paramyotonia congenita muscle. - Mitrovic N, George AL Jr, Rudel R, Lehmann-Horn F, Lerche H., 06/01/1999
	A new mutation in a family with cold-aggravated myotonia disrupts Na channel inactivation - F.�F. Wu, BS; M.P. Takahashi, MD, PhD; E. Pegoraro, MD, PhD; C. Angelini, MD; P. Colleselli, MD; S.C - 4/1/2001
	Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans - 1999 - Said Bendahhou, Theodore R. Cummins, Hubert Kwiecinski, Stephen G.Waxman and Louis J. Ptacek
	Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative - J.-F. Desaphy, PhD; A. De Luca, PhD; P. Tortorella, PhD; D. De Vito, PhD; et al - 7/21/2001
	Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis - Robert L. Ruff, August 29, 2000
	Spectrum of Sodium Channel Disturbances in Nondystrophic Myotonias and Periodic Paralyses - Stephen C. Cannon - 2000
	The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation - Arie F. Struyk, Kylie A. Scoggan, Dennis E. Bulman, and Stephen C. Cannon - 12/1/2000
	An analysis of myotonia in paramyotonia congenita - DAVID BURKE, NEVELL F. SKUSE, AND A. KEITH LETHLEAN - 1974
	Paramyotonia Congenita and Hyperkalemic Periodic Paralysis Map to the Same Sodium-Channel Gene Locus - Louis J. Ptacek, J. S. Trimmer, W.S. Agnew, J. W. Roberts, J. H. Petajan, and M. Lepper - 6/03/1991
	A Novel Mutation in the Gene for the Adult Skeletal Muscle Sodium Channel a-Subunit (SCN4A) That Causes Paramyotonia Congenita of von Eulenburg - Ryogen Sasaki, Hiroki Takano, Keiko Kamakura, Kenichi Kaida, et al - 06/1999
	A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita - David E. Featherstone, Esther Fujimoto and Peter C. Ruben - 09/30/1997
	Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II - Kuzmenkin A, Muncan V, Jurkat-Rott K, Hang C, Lerche H, Lehmann-Horn F, Mitrovic N. - 04/01/2002
	Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
	Functional expression of the Ile693Thr Na channel mutation associated with paramyotonia congenita in a human cell line - E. Plassart-Schiess, L. Lhuillier, A. L. George Jr , B. Fontaine, Nacira Tabti - 2/2/1998
	Activation and Inactivation of the Voltage-Gated Sodium Channel Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation - Sa�d Bendahhou, Theodore R. Cummins, Rabi Tawil, Stephen G. Waxman, and Louis J. Ptacek - 6/15/1999
	Membrane Defects in Paramyotonia Congenita (Eulenberg) - Frank Lehmann-Horn, Reinhardt Rudel, and Kenneth Ricker - 1987
	Gating pore current in an inherited ion channelopathy - Stanislav Sokolov, Todd Scheuer & William A. Catterall - 1/03/2007
	Muscle Na channelopathies: MRI detects intracellular Na accumulation during episodic weakness - M.A. Weber, S. Nielles-Vallespin, M. Essig, K. Jurkat-Rott, et al - August 23, 2006
	Sodium channelopathies of skeletal muscle result from gain or loss of function - March 17, 2010 - Karin Jurkat-Rott, Boris Holzherr, Michael Fauler & Frank Lehmann-Horn
	New Mutations of SCN4A cause a potassium-sensitive Normokalemic periodic paralysis - 2004
Heart-Related Articles & Resources
	Abstracts: XII World Congress on Cardiac Pacing and Electrophysiology
	Critical Analysis of Dual-Chamber Implantable Cardioverter-Defibrillator Arrhythmia Detection
	Dual-Chamber Pacing or Ventricular Backup Pacing in Patients With an Implantable Defibrillator (David) Trial
	Andersen-Tawil Syndrome - Indian Pacing and Electrophysiology Journal - Andrew H. Smith, Frank A. Fish, and Prince J. Kannankeril - 2006
	Cardiology Genetic Testing Services
	Long QT Syndrome (LQTS)
Articles of Historical Significance
	A CASE OF MYOTONIA CONGENITA WITH HYPOTHYROIDISM - A. F. WADE - 05/25/1957
	A VARIETY OF PARAMYOTONIA CONGENITA - E. B. FRENCH and R. KILPATRICK - 1957
	Cable Parameters, Sodium, Potassium, Chloride, and Water Content, and Potassium Efflux in Isolated External Intercostal Muscle of Normal Volunteers and Patients with Myotonia Congenita - R. J. LIPICKY, S. H. BRYANT, and J. H. SALMON - 2/20/1971
	Contractile properties of the abductor digiti minimi muscle in paramyotonia congenita - DAVID BURKE, NEVELL F. SKUSE, AND A. KEITH LETHLEAN - 1974
	INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES AND MULTIPLE DEVELOPMENTAL ANOMALIES - ELLEN DAMGAARD ANDERSEN, PETER A. KRASILNJKOFF, and HANS OVERVAD - 03/17/1971
	Muscle weakness after rest in myotonic disorders - J. COLIN BROWN - 1974
	THOMSEN AND MYOTONIA CONGENITA - John Johnson
	The electrical properties of muscle fibre membranes in dystrophia myotonica and myotonia congenita - A. J. McCOMAS AND K. MROZEK - 1968
	A QUANTITATIVE DESCRIPTION OF MEMBRANE CURRENT AND ITS APPLICATION TO CONDUCTION AND EXCITATION IN NERVE - A. L. HODGKIN AND A. F. HUXLEY - 10 March 1952
	Single-Channel Currents Recorded from Membrane of Denervated Frog Mucle Fibers - Erwin Neher and Bert Sakmann - April 29, 1976
Unclassified Resources
	Contribution of Ion Channels in Pain Sensation - Ofra Gohar - Spring 2005
	Acetazolamide-induced Muscle Weakness in Hypokalemic Periodic Paralysis - Ken Ikeda, Yasuo Iwasaki, Masao Kinoshita, et al - (September 2002)
	Anesthetic Management of Familial Hypokalemic Periodic Paralysis During Parturition - Christopher M. Viscomi, Louis J. Ptacek, and Donald Dudley - 01/19/1999
	Hypokalemic Periodic Paralysis (thyrotoxic): a case report and review of the literature - Benjamin R Soule and Nicole L Simone - Cases Journal 2008
	K-dependent paradoxical membrane depolarization and Na overload, major and reversible contributors to weakness by ion channel leaks - Karin Jurkat-Rott, Marc-Andre� Weber, Michael Fauler, Xiu-Hai Guo, et al - March 10, 2009
	Hypokalemic sensory overstimulation
	Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
	Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? - E. Matthews and M.G.Hanna, August 7, 2010
	Fornier Exercise Test Video
	Fornier EMG Protocol
	Muscle Electrical Activity of the Arm
	Electrical Characteristics of Channelopathies Involving Skeletal Muscle - Bob Ruff - 2007
	Investigation of Possible Periodic Paralysis (P3) N of 1 study - James Cleland - 2007
	Andersen-Tawil Syndrome-Slides - 2007 - Karin Jurkat-Rott & Frank Lehmann-Horn
	Hyper-Kalemic Periodic Paralysis Slides - 2007 - Frank Lehmann-Horn and Karin Jurkat-Rott
	Hypokalemic Periodic Paralysis-Slides - 2007 - Frank Lehmann-Horn & Karin Jurkat-Rott
	Identifying Responsible Genes-Slides - 2007 - Frank Lehmann-Horn & Karin Jurkat-Rott