Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
Open accessAbstract
BACKGROUND: Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined. METHODS: We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis. RESULTS: We identified reported CACNA1S mutations in 64 cases. In the remaining 19 cases, mutations in SCN4A or other CACNA1S S4 segments were found in 10, including three novel changes and the first mutations in channel domains I (SCN4A) and III (CACNA1S). CONCLUSIONS: All mutations affected arginine residues, consistent with the gating pore cation leak hypothesis of hypokalemic periodic paralysis. Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases.
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Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia, leading to paradoxical depolarization with consequent inactivation of Na+ channel and muscle inexcitability.
“Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia, leading to paradoxical depolarization with consequent inactivation of Na+ channel and muscle inexcitability [20].”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [20]
Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia.
“Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [20]
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Cites
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
Ptáček, L. J. (1994) · Cell · doi:10.1016/0092-8674(94)90135-x · Cited by 426 · see citing works
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 · see citing works
Gating pore current in an inherited ion channelopathy
Sokolov, S., Scheuer, T., & Catterall, W. A. (2007) · Nature · doi:10.1038/nature05598 · Cited by 302 · see citing works
Cha, A., Ruben, P. C., George, A. L., Fujimoto, E., & Bezanilla, F. (1999) · Neuron · doi:10.1016/s0896-6273(00)80680-7 · Cited by 278 · see citing works
Jurkat‐Rott, K., Mitrović, N., Hang, C., Kouzmenkine, A., Iaizzo, P. A., Herzog, J., Lerche, H., Nicole, S., Vale-Santos, J., Chauveau, D., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.17.9549 · Cited by 263 · see citing works
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 · see citing works
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
Ptáček, L. J., George, A. L., Barchi, R. L., Griggs, R. C., Riggs, J. E., Robertson, M. A., & Leppert, M. (1992) · Neuron · doi:10.1016/0896-6273(92)90203-p · Cited by 245 · see citing works
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 237 · see citing works
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 · see citing works
Sternberg, D. (2001) · Brain · doi:10.1093/brain/124.6.1091 · Cited by 214 · see citing works
PATHOMECHANISMS IN CHANNELOPATHIES OF SKELETAL MUSCLE AND BRAIN
Cannon, S. C. (2006) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.112815 · Cited by 210 · see citing works
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 · see citing works
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 · see citing works
Struyk, A. F., & Cannon, S. C. (2007) · The Journal of General Physiology · doi:10.1085/jgp.200709755 · Cited by 170 · see citing works
Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K current
Ruff, R. L. (1999) · Neurology · doi:10.1212/wnl.53.7.1556 · Cited by 112 · see citing works
Tricarico, D., Servidei, S., Tonali, P., Jurkat‐Rott, K., & Camerino, D. C. (1999) · Journal of Clinical Investigation · doi:10.1172/jci4552 · Cited by 108 · see citing works
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 · see citing works
Struyk, A. F., & Cannon, S. C. (2007) · Muscle & Nerve · doi:10.1002/mus.20928 · Cited by 78 · see citing works
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 · see citing works
Kuzmenkin, A., Muncan, V., Jurkat‐Rott, K., Hang, C., Lerche, H., Lehmann‐Horn, F., & Mitrović, N. (2002) · Brain · doi:10.1093/brain/awf071 · Cited by 76 · see citing works
Selective pathological changes of the periaqueductal gray matter in Alzheimer's disease
Parvizi, J., Hoesen, G. W. V., & Damásio, A. R. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200009)48:3 · Cited by 70 · see citing works
Bendahhou, S., Cummins, T., Griggs, R. C., Fu, Y., & Ptáček, L. J. (2001) · Annals of Neurology · doi:10.1002/ana.1144 · Cited by 70 · see citing works
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family
Wang, Q., Liu, M., Xu, C., Tang, Z., Liao, Y., Du, R., Li, W., Wu, X., Wang, X., Liu, P., et al. (2005) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0638-4 · Cited by 50 · see citing works
Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
Davies, N. P., Eunson, L. H., Samuel, M., & Hanna, M. G. (2001) · Neurology · doi:10.1212/wnl.57.7.1323 · Cited by 44 · see citing works
Self-citationKim, M., Lee, S., Park, M., Kim, B. C., Cho, K.-H., Lee, M.-C., Kim, J., & Kim, S. M. (2004) · Neuromuscular Disorders · doi:10.1016/j.nmd.2004.07.005 · Cited by 28 · see citing works
Sasaki, R., Takano, H., Kamakura, K., Kaida, K., Hirata, A., Saito, M., Tanaka, H., Kuzuhara, S., & Tsuji, S. (1999) · Archives of Neurology · doi:10.1001/archneur.56.6.692 · Cited by 24 · see citing works
Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis
Ruff, R. L. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.170293197 · Cited by 19 · see citing works
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Review of the Diagnosis and Treatment of Periodic Paralysis
Statland, J. M., Fontaine, B., Hanna, M. G., Johnson, N. E., Kissel, J. T., Sansone, V., Shieh, P. B., Tawil, R., Trivedi, J. R., Cannon, S. C., et al. (2017) · Muscle & Nerve · doi:10.1002/mus.26009 · Cited by 274 · see citing works
Self-citationChannelopathies of Skeletal Muscle Excitability
Cannon, S. C. (2015) · Comprehensive physiology · doi:10.1002/cphy.c140062 · Cited by 216 · see citing works
Mechanism of Thyrotoxic Periodic Paralysis
Lin, S.-H., & Huang, C.-L. (2012) · Journal of the American Society of Nephrology · doi:10.1681/asn.2012010046 · Cited by 174 · see citing works
Sodium Channelopathies of Skeletal Muscle
Cannon, S. C. (2017) · Handbook of experimental pharmacology · doi:10.1007/164_2017_52 · Cited by 142 · see citing works
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aay6848 · Cited by 140 · see citing works
Sodium channelopathies of skeletal muscle and brain
Mantegazza, M., Cestèle, S., & Catterall, W. A. (2021) · Physiological Reviews · doi:10.1152/physrev.00025.2020 · Cited by 133 · see citing works
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels
Striessnig, J., Bolz, H. J., & Koschak, A. (2010) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-010-0800-x · Cited by 133 · see citing works
Kullmann, D. M. (2010) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153122 · Cited by 128 · see citing works
Self-citationVoltage-sensor mutations in channelopathies of skeletal muscle
Cannon, S. C. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.186874 · Cited by 116 · see citing works
Genetic neurological channelopathies: molecular genetics and clinical phenotypes
Spillane, J. E., Kullmann, D. M., & Hanna, M. G. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2015-311233 · Cited by 116 · see citing works
Self-citationAcetazolamide 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 · see citing works
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Cheng, C.-J., Kuo, E., & Huang, C.-L. (2013) · Seminars in Nephrology · doi:10.1016/j.semnephrol.2013.04.004 · Cited by 107 · see citing works
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Dowling, J. J., Weihl, C. C., & Spencer, M. J. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00389-z · Cited by 106 · see citing works
Genetic epidemiology of malignant hyperthermia in the UK
Miller, D., Daly, C., Aboelsaod, E. M., Gardner, L., Hobson, S. J., Riasat, K., Shepherd, S., Robinson, R. L., Bilmen, J. G., Gupta, P. K., et al. (2018) · British Journal of Anaesthesia · doi:10.1016/j.bja.2018.06.028 · Cited by 105 · see citing works
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Brunklaus, A., Feng, T., Brünger, T., Pérez‐Palma, E., Heyne, H., Matthews, E. L., Semsarian, C., Symonds, J. D., Zuberi, S. M., Lal, D., et al. (2022) · Brain · doi:10.1093/brain/awac006 · Cited by 105 · see citing works
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CaV1.1: The atypical prototypical voltage-gated Ca2+ channel
Bannister, R. A., & Beam, K. G. (2012) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2012.09.007 · Cited by 94 · see citing works
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis
Rayan, D. L. R., & Hanna, M. G. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32833cc97e · Cited by 92 · see citing works
Self-citationThyrotoxic Periodic Paralysis: Clinical Challenges
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“leading to paradoxical depolarization with consequent inactivation of Na channel and muscle inexcitability [20].”
RetractedMännikkö, R., Wong, L. C. H., Tester, D. J., Thor, M. G., Sud, R., Kullmann, D. M., Sweeney, M. G., Leu, C., Sisodiya, S. M., FitzPatrick, D. R., et al. (2018) · The Lancet · doi:10.1016/s0140-6736(18)30021-7 · Cited by 78 · see citing works
Self-citationA sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis
Wu, F., Mi, W., Burns, D. K., Fu, Y., Gray, H. F., Struyk, A. F., & Cannon, S. C. (2011) · Journal of Clinical Investigation · doi:10.1172/jci57398 · Cited by 77 · see citing works
Mergy, M. A., Gowrishankar, R., Gresch, P. J., Gantz, S. C., Williams, J. T., Davis, G. L., Wheeler, C. A., Stanwood, G. D., Hahn, M. K., & Blakely, R. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1417294111 · Cited by 69 · see citing works
Moreau, A., Gosselin‐Badaroudine, P., Delemotte, L., Klein, M. L., & Chahine, M. (2015) · The Journal of General Physiology · doi:10.1085/jgp.201411304 · Cited by 72 · see citing works
Pathophysiological Role of Omega Pore Current in Channelopathies
Jurkat‐Rott, K., Groome, J. R., & Lehmann‐Horn, F. (2012) · Frontiers in Pharmacology · doi:10.3389/fphar.2012.00112 · Cited by 71 · see citing works
Ademuwagun, I. A., Rotimi, S. O., Syrbe, S., Ajamma, Y. U., & Adebiyi, E. F. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.600050 · Cited by 68 · see citing works
Suetterlin, K. J., Männikkö, R., & Hanna, M. G. (2014) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000127 · Cited by 67 · see citing works
Self-citationCheng, 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.m111.249656 · Cited by 65 · see citing works
Matthews, E. L., & Hanna, M. G. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2009.186627 · Cited by 64 · see citing works
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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 · see citing works
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia
Francis, D. G., Rybalchenko, V., Struyk, A. F., & Cannon, S. C. (2011) · Neurology · doi:10.1212/wnl.0b013e318219fb57 · Cited by 63 · see citing works
(2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00032-6 · Cited by 61 · see citing works
Self-citationA 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 · see citing works
Self-citationPrevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A. M., Verbove, D. J., Kamsteeg, E., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., et al. (2018) · Neuromuscular Disorders · doi:10.1016/j.nmd.2018.03.006 · Cited by 60 · see citing works
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison
Loussouarn, G., Sternberg, D., Nicole, S., Marionneau, C., Bouffant, F. L., Toumaniantz, G., Barc, J., Malak, O. A., Fressart, V., Péréon, Y., et al. (2016) · Frontiers in Pharmacology · doi:10.3389/fphar.2015.00314 · Cited by 56 · see citing works
Skeletal Muscle Channelopathies
Phillips, L. T., & Trivedi, J. R. (2018) · Neurotherapeutics · doi:10.1007/s13311-018-00678-0 · Cited by 57 · see citing works
Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies
Burge, J. A., & Hanna, M. G. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0238-3 · Cited by 55 · see citing works
Self-citationAtypical periodic paralysis and myalgia
Matthews, E. L., Neuwirth, C., Jaffer, F., Scalco, R., Fialho, D., Parton, M. J., Rayan, D. L. R., Suetterlin, K. J., Sud, R., Spiegel, R., et al. (2018) · Neurology · doi:10.1212/wnl.0000000000004894 · Cited by 54 · see citing works
Self-citationMaggi, L., Bonanno, S., Altamura, C., & Desaphy, J.-F. (2021) · Cells · doi:10.3390/cells10061521 · Cited by 51 · see citing works
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis
Ke, Q., Luo, B., Qi, M., Du, Y., & Wu, W. (2012) · Muscle & Nerve · doi:10.1002/mus.23460 · Cited by 46 · see citing works
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 · see citing works
Ca2+ channels and skeletal muscle diseases
Lee, E. H. (2010) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2010.05.003 · Cited by 42 · see citing works
Nav1.5 mutations linked to dilated cardiomyopathy phenotypes
Gosselin‐Badaroudine, P., Moreau, A., & Chahine, M. (2013) · Channels · doi:10.4161/chan.27179 · Cited by 41 · see citing works
A novelATP1A2mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
Castañeda, M. S., Zanoteli, E., Scalco, R., Scaramuzzi, V., Caldas, V. M., Reed, U. C., da Silva, A. M. S., O’Callaghan, B. J., Phadke, R., Bugiardini, E., et al. (2018) · Brain · doi:10.1093/brain/awy283 · Cited by 40 · see citing works
Self-citationBumetanide 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 · see citing works
Bandschapp, O., & Iaizzo, P. A. (2013) · Pediatric Anesthesia · doi:10.1111/pan.12217 · Cited by 38 · see citing works
Desaphy, J., Altamura, C., Vicart, S., & Fontaine, B. (2020) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-200582 · Cited by 37 · see citing works
Pharmacogenetics and pathophysiology ofCACNA1Smutations in malignant hyperthermia
Beam, T. A., Loudermilk, E. F., & Kisor, D. F. (2016) · Physiological Genomics · doi:10.1152/physiolgenomics.00126.2016 · Cited by 36 · see citing works
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 · see citing works
Wu, F., Quiñonez, M., DiFranco, M., & Cannon, S. C. (2018) · The Journal of General Physiology · doi:10.1085/jgp.201711962 · Cited by 33 · see citing works
Puwanant, A., & Ruff, R. L. (2010) · Muscle & Nerve · doi:10.1002/mus.21693 · Cited by 32 · see citing works
Myasthenic congenital myopathy from recessive mutations at a single residue in Na V 1.4
Elia, N., Palmio, J., Castañeda, M. S., Shieh, P. B., Quiñonez, M., Suominen, T., Hanna, M. G., Männikkö, R., Udd, B., & Cannon, S. C. (2019) · Neurology · doi:10.1212/wnl.0000000000007185 · Cited by 32 · see citing works
Self-citationChannelopathies of Skeletal Muscle Excitability
Cannon, S. C. (2015) · Comprehensive physiology · doi:10.1002/j.2040-4603.2015.tb00630.x · Cited by 31 · see citing works
Fry, A. E., Rees, E., Thompson, R., Mantripragada, K. K., Blake, P., Jones, G., Morgan, S., Jose, S., Mugalaasi, H., Archer, H. L., et al. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0294-2 · Cited by 32 · see citing works
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives
Treves, S., Jungbluth, H., Voermans, N. C., Francesco Muntoni, A., & Zorzato, F. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.07.017 · Cited by 29 · see citing works
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Männikkö, R., Shenkarev, Z. O., Thor, M. G., Berkut, A. A., Myshkin, M. Y., Paramonov, A. S., Kulbatskii, D. S., Kuzmin, D., Castañeda, M. S., King, L., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1720185115 · Cited by 28 · see citing works
Self-citationLuo, S., Castañeda, M. S., Matthews, E. L., Sud, R., Hanna, M. G., Sun, J., Song, J., Lu, J., Qiao, K., Zhao, C., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-27822-2 · Cited by 27 · see citing works
Self-citationSkeletal muscle Na+ channel disorders
Simkin, D. (2011) · Frontiers in Pharmacology · doi:10.3389/fphar.2011.00063 · Cited by 27 · see citing works
Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies
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Molecular biology and biophysical properties of ion channel gating pores
Moreau, A., Gosselin‐Badaroudine, P., & Chahine, M. (2014) · Quarterly Reviews of Biophysics · doi:10.1017/s0033583514000109 · Cited by 26 · see citing works
Brugnoni, R., Canioni, E., Filosto, M., Pini, A., Tonin, P., Rossi, T., Canavese, C., Eoli, M., Siciliano, G., Lauria, G., et al. (2021) · Neurogenetics · doi:10.1007/s10048-021-00673-2 · Cited by 25 · see citing works
PharmGKB summary: very important pharmacogene information for CACNA1S
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Self-citationWu, F., Mi, W., Fu, Y., Struyk, A. F., & Cannon, S. C. (2016) · Brain · doi:10.1093/brain/aww070 · Cited by 24 · see citing works
Etiologic and Therapeutic Analysis in Patients with Hypokalemic Nonperiodic Paralysis
Sung, C., Cheng, C., Chiang, W., Chau, T., Hsu, Y., Yang, S.-S., & Lin, S. (2014) · The American Journal of Medicine · doi:10.1016/j.amjmed.2014.09.027 · Cited by 23 · see citing works
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review
Liu, X., Huang, X., Luan, X., Zhou, H., Wang, T., Wang, J., Chen, S., Tang, H., & Cao, L. H. (2015) · Channels · doi:10.1080/19336950.2015.1012945 · Cited by 22 · see citing works
Genotype and Phenotype Analysis of Patients With Sporadic Periodic Paralysis
Sung, C., Cheng, C., Lo, Y., Lin, M.-S., Yang, S.-S., Lin, S., & Hsu, Y. (2011) · The American Journal of the Medical Sciences · doi:10.1097/maj.0b013e31822b430c · Cited by 22 · see citing works
Daniel, L. L., Yang, T., Kroncke, B. M., Hall, L. D., Stroud, D. M., & Roden, D. M. (2019) · Heart Rhythm · doi:10.1016/j.hrthm.2019.05.017 · Cited by 22 · see citing works
Mi, W., Rybalchenko, V., & Cannon, S. C. (2014) · The Journal of General Physiology · doi:10.1085/jgp.201411199 · Cited by 21 · see citing works
Mechanisms Responsible for ω -Pore Currents in Ca v Calcium Channel Voltage-Sensing Domains
Monteleone, S., Lieb, A., Pinggera, A., Negro, G., Fuchs, J. E., Hofer, F., Striessnig, J., Tuluc, P., & Liedl, K. R. (2017) · Biophysical Journal · doi:10.1016/j.bpj.2017.08.010 · Cited by 21 · see citing works
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
Sasaki, R., Nakaza, M., Furuta, M., Fujino, H., Kubota, T., & Takahashi, M. P. (2020) · Neuromuscular Disorders · doi:10.1016/j.nmd.2020.06.001 · Cited by 20 · see citing works
Animal toxins for channelopathy treatment
Kozlov, S. A. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.10.031 · Cited by 20 · see citing works
Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium ChannelsPreprint
Heyne, H., Báez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., Collaborative, T. E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., Møller, R. S., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/671453 · Cited by 20 · see citing works
Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis
Song, I.-W., Sung, C., Chen, C.-H., Cheng, C.-J., Yang, S.-S., Chou, Y., Yang, J.-H., Chen, Y.-T., Wu, J., & Lin, S. (2016) · Neurology · doi:10.1212/wnl.0000000000002524 · Cited by 19 · see citing works
Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP
Wu, F., Quiñonez, M., & Cannon, S. C. (2021) · The Journal of General Physiology · doi:10.1085/jgp.202112946 · Cited by 19 · see citing works
A Practical Approach to Genetic Hypokalemia
Lin, S., Yang, S.-S., & Chau, T. (2010) · Electrolytes & Blood Pressure · doi:10.5049/ebp.2010.8.1.38 · Cited by 19 · see citing works
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
Yiş, U., Hız, S., Gunes, S. O., Dınız, G., Baydan, F., Töpf, A., Sönmezler, E., Lochmüller, H., Horváth, R., & Oktay, Y. (2019) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-190383 · Cited by 18 · see citing works
Siddamreddy, S., & Dandu, V. (2021) · StatPearls · Cited by 18 · see citing works
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?
Stunnenberg, B. C., Deinum, J., Links, T. P., Wilde, A. A. M., Franssen, H., & Drost, G. (2014) · Muscle & Nerve · doi:10.1002/mus.24225 · Cited by 18 · see citing works
Steroid-induced hypokalemic periodic paralysis: a case report and literature review
Tai, H.-T., Lee, P., & Ou, S. (2023) · BMC Nephrology · doi:10.1186/s12882-023-03131-3 · Cited by 17 · see citing works
Fifty years of gating currents and channel gating
Catacuzzeno, L., Conti, F., & Franciolini, F. (2023) · The Journal of General Physiology · doi:10.1085/jgp.202313380 · Cited by 17 · see citing works
Huang, S., Zhang, W., Chang, X., & Guo, J. (2019) · Channels · doi:10.1080/19336950.2019.1600967 · Cited by 17 · see citing works
Thor, M. G., Vivekanandam, V., Castañeda, M. S., Tan, S. V., Suetterlin, K. J., Sud, R., Durran, S., Schorge, S., Kullmann, D. M., Hanna, M. G., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-54041-0 · Cited by 17 · see citing works
Self-citationPark, Y. H., & Kim, J. B. (2010) · Korean Journal of Pediatrics · doi:10.3345/kjp.2010.53.10.909 · Cited by 17 · see citing works
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis
Hirano, M., Kokunai, Y., Nagai, A., Nakamura, Y., Saigoh, K., Kusunoki, S., & Takahashi, M. P. (2011) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2011.07.046 · Cited by 16 · see citing works
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita
Ke, Q., Ye, J., Tang, S., Wang, J. Q., Luo, B., Ji, F., Zhang, X., Yu, Y., Cheng, X., & Li, Y. (2017) · The Journal of Physiology · doi:10.1113/jp274877 · Cited by 16 · see citing works
Ruff, R. L., & Shapiro, B. E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-6567-6_53 · Cited by 16 · see citing works
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy
Solé, L., Wagnon, J. L., & Tamkun, M. M. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165959 · Cited by 15 · see citing works
Gating Pore Currents in Sodium Channels
Groome, J. R., Moreau, A., & Delemotte, L. (2017) · Handbook of experimental pharmacology · doi:10.1007/164_2017_54 · Cited by 15 · see citing works
Chu, P.-Y., Cheng, C.-J., Tseng, M.-H., Yang, S.-S., Chen, H.-C., & Lin, S.-H. (2012) · Clinica Chimica Acta · doi:10.1016/j.cca.2012.08.004 · Cited by 14 · see citing works
de Boer, I., Hansen, J. M., & Terwindt, G. M. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-12-823357-3.00015-x · Cited by 14 · see citing works
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis
Wang, X., REN, B.-W., YONG, Z.-H., XU, H.-Y., Fu, Q., & Yao, H. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.4201 · Cited by 14 · see citing works
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children
Alghamdi, F., Darras, B. T., & Ghosh, P. S. (2017) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.02.006 · Cited by 13 · see citing works
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor
Kubota, T., Wu, F., Vicart, S., Nakaza, M., Sternberg, D., Watanabe, D., Furuta, M., Kokunai, Y., Abé, T., Kokubun, N., et al. (2020) · Brain Communications · doi:10.1093/braincomms/fcaa103 · Cited by 13 · see citing works
Voltage‐Gated Sodium Channels as Therapeutic Targets
Wingerd, J. S., Vetter, I., & Lewis, R. J. (2012) · doi:10.1002/9781118185537.ch3 · Cited by 13 · see citing works
Hypokalemic Periodic Paralysis
Phuyal, P., & Nagalli, S. (2021) · StatPearls · Cited by 12 · see citing works
Bayless-Edwards, L., Winston, V. D., Lehmann‐Horn, F., Arinze, P., Groome, J. R., & Jurkat‐Rott, K. (2018) · Scientific Reports · doi:10.1038/s41598-018-28594-5 · Cited by 12 · see citing works
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients
Bai-xu, J., Yang, Q., Li, S.-Y., Wan, M., Wang, H., Huo, L.-Y., Zhao, E. Y., Ding, Y.-C., Ji, X., & Guo, X.-H. (2014) · Neurological Research · doi:10.1179/1743132814y.0000000440 · Cited by 12 · see citing works
Zhou, W., Zhao, P., Gao, J., & Zhang, Y. (2023) · BMC Pediatrics · doi:10.1186/s12887-023-04326-1 · Cited by 11 · see citing works
Voltage-gated sodium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database
Catterall, W. A., Goldin, A. L., & Waxman, S. G. (2019) · IUPHAR/BPS Guide to Pharmacology CITE · doi:10.2218/gtopdb/f82/2019.4 · Cited by 10 · see citing works
The voltage-sensing domain of a hERG1 mutant is a cation-selective channel
Kudaibergenova, M., Guo, J., Khan, H. M., Lees‐Miller, J. P., Mousaei, M., Miranda, W. E., Ngo, V. A., Noskov, S. Y., Tieleman, D. P., & Duff, H. J. (2022) · Biophysical Journal · doi:10.1016/j.bpj.2022.10.032 · Cited by 10 · see citing works
- Authors
- Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., & Hanna, M. G.
- Affiliations
- University of Milan (IT)
- Venue
- Neurology
- Published
- 2009-05-05
- Volume
- 72
- Issue
- 18
- Pages
- 1544-1547
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2848101
- OpenAlex
- W2116159595
- Cited by
- 201
- References
- 27
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 12 · 2023: 15 · 2022: 7 · 2021: 16 · 2020: 11 · 2019: 19 · 2018: 13 · 2017: 13 · 2016: 11 · 2015: 12 · 2014: 10 · 2013: 12 · 2012: 9
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (084980, G0601943)
- National Institute for Health and Care Research (G0601943)
- Brain Research Trust
- University College London (G0601943)
- National Institutes of Health
- Medical Research Council (G0601943)
- National Center for Research Resources (U54RR019498, RR019498)
- 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 › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- hypokalemic periodic paralysis, CACNA1S, SCN4A, arginine mutations, missense mutations, voltage-gated potassium channels, novel mutations, genetic diagnosis
- MeSH terms
- Adolescent, Amino Acid Sequence, Arginine, DNA Mutational Analysis, Gene Frequency, Genetic Testing, Genotype, Humans, Membrane Potentials, Muscle Contraction, Mutation, Calcium Channels, Sodium Channels, Ion Channel Gating, Protein Structure, Tertiary, Muscle, Skeletal, Amino Acid Substitution, Genetic Predisposition to Disease, Paralysis, Hyperkalemic Periodic, Calcium Channels, L-Type, Inheritance Patterns, Young Adult, NAV1.4 Voltage-Gated Sodium Channel
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