Cited by 61Ion channel regulation and functionCardiac electrophysiology and arrhythmiasMuscle Physiology and Disorders

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Periodic paralysis

Doreen Fialho, Robert C. Griggs, Emma L. Matthews·2018·Handbook of clinical neurology

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Abstract

The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by intermittent attacks of muscle weakness often associated with altered serum potassium levels. The underlying genetic defects include mutations in genes encoding the skeletal muscle calcium channel Ca v 1.1, sodium channel Na v 1.4, and potassium channels K ir 2.1, K ir 3.4, and possibly K ir 2.6. Our increasing knowledge of how mutant channels affect muscle excitability has resulted in better understanding of many clinical phenomena which have been known for decades and sheds light on some of the factors that trigger attacks. Insights into the pathophysiology are also leading to new therapeutic approaches.

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From Ionic Currents to Molecular Mechanisms
Catterall, W. A. (2000) · Neuron · doi:10.1016/s0896-6273(00)81133-2 · Cited by 2,124
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Holt, I. J., Harding, A. E., Petty, R., & MORGAN-HUGHES, J. A. (1990) · PubMed · Cited by 1,004
K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi, M., Scholl, U. I., Yue, P., Björklund, P., Zhao, B., Nelson-Williams, C. J., Ji, W., Cho, Y., Patel, A. P., Men, C. J., et al. (2011) · Science · doi:10.1126/science.1198785 · Cited by 999
Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome
Plaster, N. M., Tawil, R., Tristani‐Firouzi, M., Canún, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E. R. P., Barohn, R. J., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00342-7 · Cited by 993
Potassium channel block by cytoplasmic polyamines as the mechanism of intrinsic rectification
Lopatin, A. N., Makhina, E. N., & Nichols, C. G. (1994) · Nature · doi:10.1038/372366a0 · Cited by 855
Ohmic conductance through the inwardly rectifying K channel and blocking by internal Mg2+
Matsuda, H., Saigusa, A., & Irisawa, H. (1987) · Nature · doi:10.1038/325156a0 · Cited by 595
Na + -K + Pump Regulation and Skeletal Muscle Contractility
Clausen, T. (2003) · Physiological Reviews · doi:10.1152/physrev.00011.2003 · Cited by 582
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
Tristani‐Firouzi, M., Jensen, J. L., Donaldson, M. R., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci15183 · Cited by 543
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
Ptáček, L. J. (1994) · Cell · doi:10.1016/0092-8674(94)90135-x · Cited by 426
A proton pore in a potassium channel voltage sensor reveals a focused electric field
Starace, D. M., & Bezanilla, F. (2004) · Nature · doi:10.1038/nature02270 · Cited by 401
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
Ptáček, L. J., George, A. L., Griggs, R. C., Tawil, R., Kallen, R. G., Barchi, R. L., Robertson, M. A., & Leppert, M. (1991) · Cell · doi:10.1016/0092-8674(91)90374-8 · Cited by 383
Self-citation
Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Tawil, R., Ptáček, L. J., Pavlakis, S. G., Vivo, D. C. D., Penn, A. S., Özdemır, C., & Griggs, R. C. (1994) · Annals of Neurology · doi:10.1002/ana.410350313 · Cited by 362
Self-citation
Mitochondrial dysfunction and free radical damage in the Huntington R6/2 transgenic mouse
Tabrizi, S. J., Workman, J. M., Hart, P. E., Mangiarini, L., Mahal, A., Bates, G. P., Cooper, J. A. D., & Schapira, A. H. V. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200001)47:1 · Cited by 353
Propagation velocity in human muscle fibers in situ.
Stålberg, E. (1966) · PubMed · Cited by 320
The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel
Campbell, K. P., LEUNG, A. T., & Sharp, A. H. (1988) · Trends in Neurosciences · doi:10.1016/0166-2236(88)90193-2 · Cited by 315
A calcium channel mutation causing hypokalemic periodic paralysis
Jurkat‐Rott, K., Lehmann‐Horn, F., Elbaz, A., Heine, R., Gregg, R. G., Hogan, K. J., Powers, P. A., Laple, P., Vale-Santos, J., Weissenbach, J., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.8.1415 · Cited by 315
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis
Ryan, D. P., Dias da Silva, M. R., Soong, T. W., Fontaine, B., Donaldson, M. R., Kung, A. W. C., Jongjaroenprasert, W., Liang, M. C., Khoo, D. H. C., Cheah, J. S., et al. (2010) · Cell · doi:10.1016/j.cell.2009.12.024 · Cited by 311
Electromyography guides toward subgroups of mutations in muscle channelopathies
Fournier, E., Arzel-Hézode, M., Sternberg, D., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20241 · Cited by 310
INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES, AND MULTIPLE DEVELOPMENTAL ANOMALIES
Andersen, E. D., Krasilnikoff, P. A., & Overvad, H. (1971) · Acta Paediatrica · doi:10.1111/j.1651-2227.1971.tb06990.x · Cited by 304
Periodic paralysis complicating thyrotoxicosis in Chinese.
McFadzean, A. J., & Yeung, R. (1967) · BMJ · doi:10.1136/bmj.1.5538.451 · Cited by 303
Gating pore current in an inherited ion channelopathy
Sokolov, S., Scheuer, T., & Catterall, W. A. (2007) · Nature · doi:10.1038/nature05598 · Cited by 302
Thyrotoxic Periodic Paralysis in the United States Report of 7 Cases and Review of the Literature
OBER, K. P. (1992) · Medicine · doi:10.1097/00005792-199205000-00001 · Cited by 289
Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations
Zhang, L., Benson, D. W., Tristani‐Firouzi, M., et al. (2005) · Circulation · doi:10.1161/circulationaha.104.472498 · Cited by 282
KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes
Andelfinger, G., Tapper, A. R., Welch, R. C., Vanoye, C. G., George, A. L., & Benson, D. W. (2002) · The American Journal of Human Genetics · doi:10.1086/342360 · Cited by 259
Voltage-Sensing Arginines in a Potassium Channel Permeate and Occlude Cation-Selective Pores
Tombola, F., Pathak, M. M., & Isacoff, E. Y. (2005) · Neuron · doi:10.1016/j.neuron.2004.12.047 · Cited by 259
Correlating phenotype and genotype in the periodic paralyses
Miller, T. M., Dias-da-Silva, M. R., Miller, H. A., Kwieciński, H., Mendell, J. R., Tawil, R., McManis, P. G., Griggs, R. C., Angelini, C. I., Servidei, S., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000143383.91137.00 · Cited by 259
Self-citation
Channelopathies of Skeletal Muscle Excitability
Cannon, S. C. (2015) · Comprehensive physiology · doi:10.1002/cphy.c140062 · Cited by 242
Adynamia episodica hereditaria with myotonia: A non‐inactivating sodium current and the effect of extracellular pH
Lehmann‐Horn, F., Küther, G., Ricker, K., et al. (1987) · Muscle & Nerve · doi:10.1002/mus.880100414 · Cited by 239
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families
Fontaine, B., Vale-Santos, J., Jurkat‐Rott, K., Reboul, J., Plassart, E., Rime, C.-S., Elbaz, A., Heine, R., Guimarães, J., Weissenbach, J., et al. (1994) · Nature Genetics · doi:10.1038/ng0394-267 · Cited by 233
Histidine Scanning Mutagenesis of Basic Residues of the S4 Segment of the Shaker K+ Channel
Starace, D. M., & Bezanilla, F. (2001) · The Journal of General Physiology · doi:10.1085/jgp.117.5.469 · Cited by 232
Voltage-Dependent Proton Transport by the Voltage Sensor of the Shaker K+ Channel
Starace, D. M., Stefani, E., & Bezanilla, F. (1997) · Neuron · doi:10.1016/s0896-6273(00)80422-5 · Cited by 226
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
Sternberg, D. (2001) · Brain · doi:10.1093/brain/124.6.1091 · Cited by 214
A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation
Cannon, S. C., Brown, R. H., & Corey, D. P. (1991) · Neuron · doi:10.1016/0896-6273(91)90064-7 · Cited by 211
Andersen's syndrome: A distinct periodic paralysis
Sansone, V., Griggs, R. C., Meola, G., Ptáček, L. J., Barohn, R. J., Iannaccone, S. T., Bryan, W. W., Baker, N., Janas, S. J., Scott, W., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410420306 · Cited by 210
Self-citation
THE ASSOCIATION OF PERIODIC PARALYSIS AND HYPERTHYROIDISM IN JAPAN
OKINAKA, S., SHIZUME, K., UNO, S., WATANABE, A., IRIE, M., NOGUCHI, A., KUMA, S., KUMA, K., & ITO, T. (1957) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-17-12-1454 · Cited by 206
The exercise test in periodic paralysis
McManis, P. G., Lambert, E. H., & Daube, J. R. (1986) · Muscle & Nerve · doi:10.1002/mus.880090805 · Cited by 206
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., et al. (2009) · Neurology · doi:10.1212/01.wnl.0000342387.65477.46 · Cited by 201
Self-citation
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
Bulman, D. E., Scoggan, K. A., van Oene, M. D., Nicolle, M. W., Hahn, A. F., Tollar, L. L., & Ebers, G. C. (1999) · Neurology · doi:10.1212/wnl.53.9.1932 · Cited by 191
PIP 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
Donaldson, M. R., Jensen, J. L., Tristani‐Firouzi, M., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000072261.14060.47 · Cited by 186
Impaired slow inactivation in mutant sodium channels
Cummins, T., & Sigworth, F. J. (1996) · Biophysical Journal · doi:10.1016/s0006-3495(96)79219-6 · Cited by 181
Cloning and expression of a family of inward rectifier potassium channels.
Bond, C. T., Pessia, M., Xia, X., et al. (1994) · PubMed · Cited by 176
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
Cummins, T., Zhou, J., Sigworth, F. J., Ukomadu, C., Stephan, M. M., Ptáčk, L. J., & Agnew, W. S. (1993) · Neuron · doi:10.1016/0896-6273(93)90168-q · Cited by 176
K + -dependent paradoxical membrane depolarization and Na + overload, major and reversible contributors to weakness by ion channel leaks
Jurkat‐Rott, K., Weber, M. D., Fauler, M., Guo, X.-H., Holzherr, B. D., Paczulla, A., Nordsborg, N. B., Jöechle, W., & Lehmann‐Horn, F. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811277106 · Cited by 172
A Na+ Channel Mutation Linked to Hypokalemic Periodic Paralysis Exposes a Proton-selective Gating Pore
Struyk, A. F., & Cannon, S. C. (2007) · The Journal of General Physiology · doi:10.1085/jgp.200709755 · Cited by 170
Functional Subunit Structure of Voltage-Gated Calcium Channels
Catterall, W. A. (1991) · Science · doi:10.1126/science.1654596 · Cited by 165
Thyrotoxic Periodic Paralysis: Report of 10 Cases and Review of Electromyographic Findings
Kelley, D. E. (1989) · Archives of Internal Medicine · doi:10.1001/archinte.1989.00390110139031 · Cited by 158
Cold extends electromyography distinction between ion channel mutations causing myotonia
Fournier, E., Viala, K., Gervais, H., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20905 · Cited by 156
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
McClatchey, A. I., McKenna-Yasek, D. M., Cros, D. P., et al. (1992) · Nature Genetics · doi:10.1038/ng1092-148 · Cited by 140
Acetazolamide Treatment of Hypokalemic Periodic Paralysis
Griggs, R. C., ENGEL, W. K., & RESNICK, J. S. (1970) · Annals of Internal Medicine · doi:10.7326/0003-4819-73-1-39 · Cited by 133
Self-citation
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner, V., Romero, N. B., Donkervoort, S. C., Treves, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Zorzato, F., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1656-8 · Cited by 130
Self-citation
Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
Zaharieva, I. T., Thor, M. G., Oates, E. C., van Karnebeek, C., Hendson, G., Blom, E. W., Witting, N., Rasmussen, M., Gabbett, M. T., Ravenscroft, G., et al. (2015) · Brain · doi:10.1093/brain/awv352 · Cited by 128
Self-citation
Adynamia Episodica Hereditaria
Gamstorp, I. (1956) · Acta Paediatrica · doi:10.1111/j.1651-2227.1956.tb06931.x · Cited by 127
Effect of insulin upon the sodium pump in frog skeletal muscle
Moore, R. D. (1973) · The Journal of Physiology · doi:10.1113/jphysiol.1973.sp010255 · Cited by 116
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype
Matthews, E. L., Portaro, S., Qian, K., Sud, R., Haworth, A., Davis, M. B., Griggs, R. C., & Hanna, M. G. (2011) · Neurology · doi:10.1212/wnl.0b013e31823a0cb6 · Cited by 116
Self-citation
Thyrotoxic periodic paralysis
Yeung, R. T. T., & Tse, T. F. (1974) · The American Journal of Medicine · doi:10.1016/0002-9343(74)90010-2 · Cited by 115
STUDIES IN DISORDERS OF MUSCLE. VII. CLINICAL MANIFESTATIONS AND INHERITANCE OF A TYPE OF PERIODIC PARALYSIS WITHOUT HYPOPOTASSEMIA 1
Tyler, F. H., Stephens, F. E., Gunn, F. D., et al. (1951) · Journal of Clinical Investigation · doi:10.1172/jci102465 · Cited by 113
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
Pitceathly, R. D. S., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C. E., Mudanohwo, E. E., Hargreaves, I. P., Heales, S., Land, J. M., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182698d8d · Cited by 111
ADYNAMIA EPISODICA HEREDITARIA AND ITS TREATMENT
McArdle, B. (1962) · Brain · doi:10.1093/brain/85.1.121 · Cited by 108
Andersen–Tawil syndrome
Davies, N. P., Imbrici, P., Fialho, D., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000178888.03767.74 · Cited by 108
Self-citation
Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis
Cheng, C.-J., Kuo, E., & Huang, C.-L. (2013) · Seminars in Nephrology · doi:10.1016/j.semnephrol.2013.04.004 · Cited by 107
Molecular cloning and expression of a human heart inward rectifier potassium channel
Raab‐Graham, K. F., Radeke, C. M., & Vandenberg, C. A. (1994) · Neuroreport · doi:10.1097/00001756-199412000-00024 · Cited by 106
Refined exercise testing can aid dna‐based diagnosis in muscle channelopathies
Tan, S. V., Matthews, E. L., Barber, M., Burge, J. A., Rajakulendran, S., Fialho, D., Sud, R., Haworth, A., Koltzenburg, M., & Hanna, M. G. (2011) · Annals of Neurology · doi:10.1002/ana.22238 · Cited by 103
Self-citation
Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity
Donaldson, M. R., Yoon, G., Fu, Y., & Ptáček, L. J. (2004) · Annals of Medicine · doi:10.1080/17431380410032490 · Cited by 102
Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis
Fouad, G. T., Dalakas, M. C., Servidei, S., Mendell, J. R., den Bergh, P. Y. K. V., Angelini, C. I., Alderson, K., Griggs, R. C., Tawil, R., Gregg, R. G., et al. (1997) · Neuromuscular Disorders · doi:10.1016/s0960-8966(96)00401-4 · Cited by 101
Self-citation
FAMILIAL PERIODIC PARALYSIS AND ITS TRANSITION INTO SPINAL MUSCULAR ATROPHY
Biemond, A., & DANIELS, A. P. (1934) · Brain · doi:10.1093/brain/57.2.91 · Cited by 100
Identification of Critical Residues Controlling G Protein-gated Inwardly Rectifying K+ Channel Activity through Interactions with the βγ Subunits of G Proteins
He, C., Yan, X., Zhang, H., Mirshahi, T., Jin, T., Huang, A., & Logothetis, D. E. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m104851200 · Cited by 96
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Zhou, H., Lillis, S., Loy, R. E., Ghassemi, F., Rose, M. R., Norwood, F., Mills, K. R., Al‐Sarraj, S., Lane, R. J. M., Feng, L., et al. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.12.005 · Cited by 96
Self-citation
PERIODIC PARALYSIS
Talbott, J. H. (1941) · Medicine · doi:10.1097/00005792-194102000-00002 · Cited by 96
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
Verny, C., Guegen, N., Desquiret‐Dumas, V., Chevrollier, A., Prundean, A., Dubas, F., Cassereau, J., Ferré, M., Amati‐Bonneau, P., Bonneau, D., et al. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.07.006 · Cited by 90
Acetazolamide Prophylaxis in Hypokalemic Periodic Paralysis
Resnick, J. S., Engel, W. K., Griggs, R. C., & Stam, A. C. (1968) · New England Journal of Medicine · doi:10.1056/nejm196803142781102 · Cited by 86
Self-citation
Thyrotoxicosis and Periodic Paralysis: Improvement with Beta Blockade
Conway, M. J., SEIBEL, J. A., & EATON, R. P. (1974) · Annals of Internal Medicine · doi:10.7326/0003-4819-81-3-332 · Cited by 86
A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1
Kokunai, Y., Nakata, T., Furuta, M., Sakata, S., Kimura, H., Aiba, T., Yoshinaga, M., Osaki, Y., Nakamori, M., Itoh, H., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000239 · Cited by 82
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity
Wagner, S., Lerche, H., Mitrović, N., Heine, R., George, A. L., & Lehmann-Horn, F. (1997) · Neurology · doi:10.1212/wnl.49.4.1018 · Cited by 82
The familial periodic paralyses and nondystrophic myotonias
Ptáček, L. (1998) · The American Journal of Medicine · doi:10.1016/s0002-9343(98)00123-5 · Cited by 82
Gating Pore Currents in DIIS4 Mutations of NaV1.4 Associated with Periodic Paralysis: Saturation of Ion Flux and Implications for Disease Pathogenesis
Struyk, A. F., Markin, V. S., Francis, D., & Cannon, S. C. (2008) · The Journal of General Physiology · doi:10.1085/jgp.200809967 · Cited by 79
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
Sansone, V., Burge, J. A., McDermott, M. P., Smith, P., Herr, B. E., Tawil, R., Pandya, S., Kissel, J. T., Ciafaloni, E., Shieh, P. B., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002416 · Cited by 79
Self-citation
Association of Novel Single Nucleotide Polymorphisms in the Calcium Channel α1 Subunit Gene (Cav1.1) and Thyrotoxic Periodic Paralysis
Kung, A. W. C., Lau, K. S., Fong, G. C. Y., & Chan, V. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030924 · Cited by 77
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
Vicart, S., Sternberg, D., Fournier, E., Ochsner, F., Laforêt, P., Küntzer, T., Eymard, B., Hainque, B., & Fontaine, B. (2004) · Neurology · doi:10.1212/01.wnl.0000145768.09934.ec · Cited by 77
Thyroid hormone specifically regulates skeletal muscle Na(+)-K(+)-ATPase alpha 2- and beta 2-isoforms
Azuma, K. K., Hensley, C. B., Tang, M. J., & McDonough, A. A. (1993) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.1993.265.3.c680 · Cited by 75
Muscle fiber recovery functions studied with double pulse stimulation
Mihelin, M., Trontelj, J. V., & Stålberg, E. (1991) · Muscle & Nerve · doi:10.1002/mus.880140808 · Cited by 71
Dynamic Ca2+-Induced Inward Rectification of K+Current During the Ventricular Action Potential
Zaza, A., Rocchetti, M., Brioschi, A., Cantadori, A., & Ferroni, A. (1998) · Circulation Research · doi:10.1161/01.res.82.9.947 · Cited by 66
Effects of chloride transport on bistable behaviour of the membrane potential in mouse skeletal muscle
Foppen, R. J. G., van Mil, H. G. J., & van Heukelom, J. S. (2002) · The Journal of Physiology · doi:10.1113/jphysiol.2001.013298 · Cited by 63
Acute Hypercapnic Respiratory Failure due to Thyrotoxic Periodic Paralysis
Liu, Y.-C., Tsai, W.-S., Chau, T., & Lin, S.-H. (2004) · The American Journal of the Medical Sciences · doi:10.1097/00000441-200405000-00025 · Cited by 63
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
Groome, J. R., Lehmann‐Horn, F., Fan, C., Wolf, M., Winston, V. D., Merlini, L., & Jurkat‐Rott, K. (2014) · Brain · doi:10.1093/brain/awu015 · Cited by 63
Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation
Santorelli, F. M., Mak, S.-C., Vázquez-Memije, M. E., et al. (1996) · Pediatric Research · doi:10.1203/00006450-199605000-00028 · Cited by 62
Andersen–Tawil syndrome
Yoon, G., Quitania, L., Kramer, J. H., Fu, Y., Miller, B. L., & Ptáček, L. J. (2006) · Neurology · doi:10.1212/01.wnl.0000218214.64942.64 · Cited by 62
A recessive Na v 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
Habbout, K., Poulin, H., Rivier, F., Giuliano, S., Sternberg, D., Fontaine, B., Eymard, B., Morales, R. J., Échenne, B., King, L., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000002264 · Cited by 61
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Auré, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforêt, P., Streichenberger, N., Petiot, P., Gervais‐Bernard, H., et al. (2013) · Neurology · doi:10.1212/01.wnl.0000436067.43384.0b · Cited by 60
Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations
Plassart, E., Reboul, J., Rime, C.-S., et al. (1994) · European Journal of Human Genetics · doi:10.1159/000472351 · Cited by 56
Transient paresis in myotonic syndromes: A simplified electrophysiologic approach
Streib, E. W., Sun, S. F., & Yarkowsky, T. (1982) · Muscle & Nerve · doi:10.1002/mus.880050909 · Cited by 55
Normokalemic periodic paralysis revisited: Does it exist?
Chinnery, P. F., Walls, T. J., Hanna, M. G., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10257 · Cited by 55
Physiologic Principles Underlying Ion Channelopathies
Cannon, S. C. (2007) · Neurotherapeutics · doi:10.1016/j.nurt.2007.01.015 · Cited by 48
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family
Ke, T., Gomez, C. R., Mateus, H., Castano, J. A., & Wang, Q. K. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.92 · Cited by 47
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
Zhou, J., Spier, S. J., Beech, J., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.9.1599 · Cited by 46
Kir2.6 Regulates the Surface Expression of Kir2.x Inward Rectifier Potassium Channels
Dassau, L., Conti, L. R., Radeke, C. M., Ptáček, L. J., & Vandenberg, C. A. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.170597 · Cited by 43
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation
Fan, C., Lehmann‐Horn, F., Weber, M. D., Bednarz, M. J., Groome, J. R., Jonsson, M. K. B., & Jurkat‐Rott, K. (2013) · Brain · doi:10.1093/brain/awt300 · Cited by 42
Thyrotoxic Hypokalemic Periodic Paralysis: Report of Four Cases in Black American Males1
Kilpatrick, R. E., Seiler-Smith, S., & Levine, S. N. (1994) · Thyroid® · doi:10.1089/thy.1994.4.441 · Cited by 41
The exercise test as a monitor of disease status in hypokalaemic periodic paralysis
Tengan, C. H. (2004) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2003.013870 · Cited by 41
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis
Wu, F., Mi, W., & Cannon, S. C. (2013) · Neurology · doi:10.1212/wnl.0b013e3182886a0e · Cited by 39
Membrane dysfunction in Andersen‐Tawil syndrome assessed by velocity recovery cycles
Tan, S. V., Z'Graggen, W. J., Boërio, D., et al. (2012) · Muscle & Nerve · doi:10.1002/mus.23293 · Cited by 38
PERIODIC PARALYSIS ASSOCIATED WITH HYPERTHYROIDISM: REPORT OF THREE CASES
LINDER, M. A. (1955) · Annals of Internal Medicine · doi:10.7326/0003-4819-43-2-241 · Cited by 36
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis
Wu, F., Mi, W., & Cannon, S. C. (2013) · Brain · doi:10.1093/brain/awt280 · Cited by 35
Homozygosity for dominant mutations increases severity of muscle channelopathies
Arzel-Hézode, M., Sternberg, D., Tabti, N., et al. (2009) · Muscle & Nerve · doi:10.1002/mus.21520 · Cited by 33
Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis
Kil, T. H., & Kim, J.-B. (2009) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2009.08.004 · Cited by 32
Fatal dysrhythmia following potassium replacement for hypokalemic periodic paralysis.
Ahmed, I., & Chilimuri, S. S. (2010) · PubMed Central · Cited by 31
The Structure of the Gene Encoding the Human Skeletal Muscle α1Subunit of the Dihydropyridine-Sensitive L-type Calcium Channel (CACNL1A3)
Hogan, K. J., Gregg, R. G., & Powers, P. A. (1996) · Genomics · doi:10.1006/geno.1996.0066 · Cited by 29
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
Corrochano, S., Männikkö, R., Joyce, P. I., McGoldrick, P., Wettstein, J., Lassi, G., Rayan, D. L. R., Blanco, G., Quinn, C. C., Liavas, A., et al. (2014) · Brain · doi:10.1093/brain/awu292 · Cited by 29
Periodic Paralysis in Taiwan
CHEN, K.-M. (1965) · Archives of Neurology · doi:10.1001/archneur.1965.00460260055007 · Cited by 20
Thyroid Hormone Increases mRNA and Protein Expression of Na+-K+-ATPase α2 and β1 Subunits in Human Skeletal Muscles
Phakdeekitcharoen, B., Phudhichareonrat, S., Pookarnjanamorakot, C., Kijkunasathian, C., Tubtong, N., Kittikanokrat, W., & Radinahamed, P. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0552 · Cited by 18
A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)
Kim, J.-B., Lee, K., & Hur, J.-K. (2005) · Journal of Korean Medical Science · doi:10.3346/jkms.2005.20.1.162 · Cited by 18
POTASSIUM CHLORIDE IN MYASTHENIA GRAVIS
Walker, M. B. (1935) · The Lancet · doi:10.1016/s0140-6736(01)09382-5 · Cited by 13
Episodic weakness and Charcot–marie–tooth disease due to a mitochondrial MT‐ATP6 mutation
Panosyan, F. B., Tawil, R., & Herrmann, D. N. (2017) · Muscle & Nerve · doi:10.1002/mus.25453 · Cited by 12
The negative after potential of human muscle fibres.
Bergmans, J. (1971) · PubMed · Cited by 11
Hypokalaemic paralysis in remote aboriginal communities.
Ghose, R., Quail, G., King, R., et al. (1996) · PubMed · Cited by 10
Spinal Anesthesia for a Patient with a Calcium Channel Mutation Causing Hypokalemic Periodic Paralysis
Hecht, M. L., Valtysson, B., & Hogan, K. J. (1997) · Anesthesia & Analgesia · doi:10.1213/00000539-199702000-00043 · Cited by 9
Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
Cheng, C.-J., Lin, S.-H., Lo, Y.-F., Yang, S.-S., Hsu, Y.-J., Cannon, S. C., & Huang, C.-L. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.a111.249656 · Cited by 6
Thyrotoxic periodic paralysis in a Maori patient.
Wild, E. (2004) · PubMed · Cited by 4

Research works printed but not linked: 2

Kuhn, 2016, Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients, J Neurol Neurosurg Psychiatry, 87, 49
Rosenfeld, 1902, Akute aufsteigende Lähmung bei Morbus Basedow. Berl, klin Wochenschr, 39, 538

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Al Hariri, B., Hassan, M. A., Sharif, M., Alsakaji, O. A., Hassan, Y. A., & Khalid, M. K. (2024) · Case Reports in Neurology · doi:10.1159/000541585 · Cited by 8
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Basnet, A., Goyal, N., Tiwari, K., Kansakar, S., & Gautam, S. (2023) · Cureus · doi:10.7759/cureus.34301 · Cited by 2

See all 61

Authors: Fialho, D., Griggs, R. C., & Matthews, E. L.
Affiliations: National Hospital for Neurology and Neurosurgery (GB)
University of Rochester Medicine (US)
Corresponding author: Robert C. Griggs
ORCID: Doreen Fialho
Robert C. Griggs
Emma L. Matthews
Venue: Handbook of clinical neurology
Publisher: Elsevier
Published: 2018
Volume: 148
Pages: 505-520
ISSN: 0072-9752 (ISSN-L)
DOI: 10.1016/b978-0-444-64076-5.00032-6
OpenAlex: W4211027566
Cited by: 61
References: 117
Citations by year: 2026: 4 · 2025: 5 · 2024: 10 · 2023: 9 · 2022: 9 · 2021: 7 · 2020: 7 · 2019: 4 · 2018: 4
FWCI: 7.41
Type: book chapter
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Handbook of clinical neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Keywords: periodic paralysis, skeletal muscle channelopathies, muscle weakness, serum potassium, CaV1.1, Nav1.4, Kir2.1, Kir3.4, muscle excitability, pathophysiology, treatment
MeSH terms: Humans, Ion Channels, Mutation, Paralyses, Familial Periodic, Genetic Predisposition to Disease

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