Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis
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Summary: objective To investigate whether patients with thyrotoxic hypokalaemic periodic paralysis (THPP) have the same molecular defect in the calcium channel gene described in familial hypokalaemic periodic paralysis (FHPP), as the symptoms of both diseases are comparable, we analysed, in patients with THPP, the presence of mutations R528H, R1239H and R1239G on the S 4 voltage‐sensing transmembrane segment of the α1 subunit of the calcium channel gene (Cav1·1). design and patients Genomic DNA was extracted from peripheral blood from 14 patients with THPP, 13 sporadic cases and one with a family history. An FHPP family was selected as a positive control. The exons bearing the described mutations were amplified by PCR, screened by single‐strand conformation polymorphism (SSCP), and further sequenced. measurements THPP was diagnosed both clinically and through laboratory tests, all patients having elevated levels of thyroid hormones (T4, T3 or free T4), suppressed TSH and plasma potassium below 3·5 mmol/l. results No evidence of the described mutations was found in patients with THPP. Furthermore, we did not detect any mutations in any of the four full S 4 voltage‐sensing transmembrane segments of Cav1·1 (DIS 4, DIIS 4, DIIIS 4 and DIVS 4) by direct sequencing. However, close to the R528H mutation, we identified two single nucleotide polymorphisms at nucleotides 1551 and 1564 in both familial and sporadic cases with THPP. In addition, we were able to detect the R528H mutation in the DIIS 4 transmembrane segment in all members of the FHPP family. conclusion Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis. However, polymorphisms in nucleotides 1551 and 1564 in the exon 11 were found in patients with familial hypokalaemic periodic paralysis and thyrotoxic hypokalaemic periodic paralysis in higher frequency than in controls. The polymorphisms identified within the Cav1·1 gene are associated with thyrotoxic hypokalaemic periodic paralysis and represent a novel finding.
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A mutation in the CACNA1S gene has been identified in patients with THPP from Brazil and southern China.
“A mutation in the Cav1.1 (CACNA1S) gene has also been identified in patients with THPP from Brazil [20] and southern China [21].”
From Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms (2025) · cites this paper as [20]
The Brazil citation is attached to the claim that a CACNA1S mutation was identified in patients with THPP. The Mutation analysis section says none of the THPP samples had the R528H, R1239H, or R1239G mutations; the Discussion places the R528H finding in a Brazilian family with familial, not thyrotoxic, hypokalaemic periodic paralysis. The separate southern China citation is not judged here. (LLM, conf=0.91)
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Experimental — accuracy not yet measuredCACNA1S mutations promote an excessive intracellular shift of potassium during hyperthyroidism, leading to hypokalemia, which reduces muscle membrane excitability and produces muscle weakness and paralysis.
“CACNA1S mutations have been linked to ion channel dysfunction that promotes an excessive intracellular shift of potassium during periods of hyperthyroidism, eventually leading to hypokalemia. This hypokalemia reduces muscle membrane excitability, similarly producing muscle weakness and paralysis.”
From Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms (2025) · cites this paper as [20]
The Mutation analysis section reports that none of the patients with thyrotoxic hypokalaemic periodic paralysis carried the tested Caᵥ1.1 mutations; the Discussion likewise says those mutations were absent in these patients. The Discussion does describe potassium influx into cells and impaired muscle excitability during attacks, but it does not attribute that process to CACNA1S mutations in hyperthyroidism. Page numbers are unavailable in our copy. (LLM, conf=0.87)
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Cites
Structure and Regulation of Voltage-Gated Ca <sup>2+</sup> Channels
Catterall, W. A. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.521 · Cited by 2,344 · see citing works
Nomenclature of Voltage-Gated Sodium Channels
Goldin, A. L., Barchi, R. L., Caldwell, J. H., Hofmann, F. B., Howe, J. R., Hunter, J. C., Kallen, R. G., Mandel, G., Meisler, M. H., Berwald‐Netter, Y., et al. (2000) · Neuron · doi:10.1016/s0896-6273(00)00116-1 · Cited by 1,484 · see citing works
Structure and Function of Voltage-Sensitive Ion Channels
Catterall, W. A. (1988) · Science · doi:10.1126/science.2459775 · Cited by 1,182 · see citing works
Rapid silver staining and recovery of PCR products separated on polyacrylamide gels.
Cj, S., Neto, E. D., & Aj, S. (1994) · PubMed · Cited by 1,179 · see citing works
Regulation and modulation of calcium channels in cardiac, skeletal, and smooth muscle cells
McDonald, T. F., Pelzer, S., Trautwein, W., & Pelzer, D. J. (1994) · Physiological Reviews · doi:10.1152/physrev.1994.74.2.365 · Cited by 995 · see citing works
Nomenclature of Voltage-Gated Calcium Channels
Ertel, E. A., Campbell, K. P., Harpold, M. M., Hofmann, F. B., Mori, Y., Perez‐Reyes, E., Schwartz, A., Snutch, T. P., Tanabe, T., Birnbaumer, L., et al. (2000) · Neuron · doi:10.1016/s0896-6273(00)81057-0 · Cited by 886 · see citing works
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
The hemodialysis catheter conundrum: Hate living with them, but can’t live without them
Schwab, S. J., & Beathard, G. A. (1999) · Kidney International · doi:10.1046/j.1523-1755.1999.00512.x · Cited by 394 · 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
Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., & Goldstein, S. A. N. (2001) · Cell · doi:10.1016/s0092-8674(01)00207-0 · Cited by 294 · see citing works
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 · 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
Clinical and Metabolic Features of Thyrotoxic Periodic Paralysis in 24 Episodes
Manoukian, M. A., Foote, J. A., & Crapo, L. M. (1999) · Archives of Internal Medicine · doi:10.1001/archinte.159.6.601 · Cited by 255 · see citing works
Regulation of the Na, K-pump in skeletal muscle
Clausen, T., & Everts, M. E. (1989) · Kidney International · doi:10.1038/ki.1989.1 · 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
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
Thyrotoxic periodic paralysis in a Chinese population
Ko, G. T. C., Chow, C. C., Yeung, V. T. F., Chan, H. H. L., LI, J. K. Y., & Cockram, C. S. (1996) · QJM · doi:10.1093/qjmed/89.6.463 · Cited by 160 · see citing works
Primary midline developmental field. I. Clinical and epidemiological characteristics
Martínez‐Frías, M. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560406 · Cited by 153 · see citing works
Ahlawat, S. K., & Sachdev, A. (1999) · Postgraduate Medical Journal · doi:10.1136/pgmj.75.882.193 · Cited by 141 · see citing works
Elbaz, A., Vale-Santos, J., Jurkat‐Rott, K., Lapie, P., Ophoff, R. A., Bady, B., Links, T. P., Piussan, C., Vila, A., & Monnier, N. (1995) · Europe PMC (PubMed Central) · Cited by 113 · 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
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 · see citing works
Thyrotoxic Periodic Paralysis Terminated With Intravenous Propranolol
Shayne, P. H., & Hart, A. (1994) · Annals of Emergency Medicine · doi:10.1016/s0196-0644(94)70286-1 · Cited by 73 · see citing works
Morrill, J. A., & Cannon, S. C. (1999) · The Journal of Physiology · doi:10.1111/j.1469-7793.1999.00321.x · Cited by 73 · see citing works
Lapie, P., Goudet, C., Nargeot, J., Fontaine, B., & Lory, P. (1996) · FEBS Letters · doi:10.1016/0014-5793(96)00173-1 · Cited by 72 · see citing works
Jurkat‐Rott, K., Uetz, U., Pika‐Hartlaub, U., Powell, J. A., Fontaine, B., Melzer, W., & Lehmann‐Horn, F. (1998) · FEBS Letters · doi:10.1016/s0014-5793(98)00090-8 · Cited by 64 · see citing works
Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect
Grosson, C. L. S., Esteban‐Pérez, J., McKenna-Yasek, D. M., Gusella, J. F., & Brown, R. H. (1996) · Neuromuscular Disorders · doi:10.1016/0960-8966(95)00018-6 · Cited by 47 · see citing works
Lapie, P., Lory, P., & Fontaine, B. (1997) · Neuromuscular Disorders · doi:10.1016/s0960-8966(97)00435-5 · Cited by 45 · see citing works
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
Plassart, E., Elbaz, A., Santos, J., Reboul, J., Lapie, P., Chauveau, D., Jurkat‐Rott, K., Guimaraes, J., Saudubray, J., Weissenbach, J., et al. (1994) · Human Genetics · doi:10.1007/bf00211025 · Cited by 44 · see citing works
Gregg, R. G., Couch, F. J., Hogan, K. J., & Powers, P. A. (1993) · Genomics · doi:10.1006/geno.1993.1017 · Cited by 43 · see citing works
Regulation of cardiac sarcolemmal Ca2+ channels and Ca2+ transporters by thyroid hormone
Seppet, E. K., Kolář, F., Dixon, I., Hata, T., & Dhalla, N. S. (1993) · Molecular and Cellular Biochemistry · doi:10.1007/bf00926363 · Cited by 33 · see citing works
Changes in Thyroid State Affect pHiand Nai+Homeostasis in Rat Ventricular Myocytes
Wolska, B. M., Averyhart‐Fullard, V., Omachi, A., Stojanović, M. O., Kallen, R. G., & Solaro, R. J. (1997) · Journal of Molecular and Cellular Cardiology · doi:10.1006/jmcc.1997.0495 · Cited by 29 · see citing works
Hogan, K. J., Gregg, R. G., & Powers, P. A. (1996) · Genomics · doi:10.1006/geno.1996.0066 · Cited by 29 · see citing works
Gøtzsche, L. B.-H. (1994) · European Journal of Endocrinology · doi:10.1530/eje.0.1300171 · Cited by 25 · see citing works
Hypokalemia and the pathology of ion transport molecules.
Antes, L. M., Da, K., & Pc, F. (1998) · PubMed · Cited by 23 · see citing works
Tabb, J. S., Fanger, G., Em, W., Maue, R., & Henderson, L. (1994) · Journal of Neuroscience · doi:10.1523/jneurosci.14-02-00763.1994 · Cited by 22 · see citing works
Thyrotoxic periodic paralysis and the sodium/potassium pump
Marx, A., Ruppersberg, J. P., Pietrzyk, C., & Rüdel, R. (1989) · Muscle & Nerve · doi:10.1002/mus.880121005 · Cited by 22 · see citing works
The relationship of insulin receptors to hypokalemic periodic paralysis
Hofmann, W. W., Adornato, B. T., & Reich, H. (1983) · Muscle & Nerve · doi:10.1002/mus.880060108 · Cited by 20 · see citing works
Gallagher, E. J. (1999) · Journal of Emergency Medicine · doi:10.1016/s0736-4679(98)00141-3 · Cited by 18 · see citing works
Griggs, R. C., & Ptáček, L. J. (1992) · Hospital Practice · doi:10.1080/21548331.1992.11705525 · Cited by 15 · see citing works
Detection of point mutations by non-isotopic single strand conformation polymorphism
Pinheiro, N. A., de Moura, R. P., Monteiro, E. J. B., & Villa, L. L. (1999) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x1999000100008 · Cited by 8 · see citing works
Mpanias, O. D., Hiremath, S., & Wang, T. (1983) · Molecular and Cellular Biochemistry · doi:10.1007/bf00227215 · Cited by 6 · see citing works
Gharib, H. (1998) · Endocrine Practice · doi:10.4158/ep.4.3.178 · Cited by 3 · see citing works
Fanger, G. R., Maue, R. A., Henderson, L., et al. (2021) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/t0dq-1335 · Cited by 1 · see citing works
Flagged first, then by citations
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- Gallagher, E.J. (1999) Is thyrotoxic periodic paralysis a channelopathy? Journal of Emergency Medicine, 17, 123 -127.
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Sorted by citations
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Kung, A. W. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0356 · Cited by 371 · see citing works
Lin, S.-H. (2005) · Mayo Clinic Proceedings · doi:10.4065/80.1.99 · Cited by 254 · see citing works
Khosravani, H., Altier, C., Simms, B., Hamming, K. S. C., Snutch, T. P., Mezeyova, J., McRory, J. E., & Zamponi, G. W. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.c400006200 · Cited by 186 · see citing works
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Lin, S.-H., Lin, Y.-F., Chen, D.-T., Chu, P., Hsu, C.-W., & Halperin, M. L. (2004) · Archives of Internal Medicine · doi:10.1001/archinte.164.14.1561 · Cited by 167 · see citing works
Tassone, H., Moulin, A., & Henderson, S. O. (2004) · The Journal of Emergency Medicine · doi:10.1016/j.jemermed.2003.05.004 · Cited by 93 · see citing works
Novel etiopathophysiological aspects of thyrotoxic periodic paralysis
Maciel, R. M. B., Lindsey, S. C., & Dias da Silva, M. R. (2011) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2011.58 · Cited by 86 · see citing works
Self-citationKung, 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 · see citing works
Thyrotoxic periodic paralysis: clinical and molecular aspects
Falhammar, H., Thorén, M., & Calissendorff, J. (2012) · Endocrine · doi:10.1007/s12020-012-9777-x · Cited by 74 · see citing works
Schalin‐Jäntti, C., Laine, T., Valli‐Jaakola, K., Lönnqvist, T. R. I., Kontula, K., & Välimäki, M. J. (2005) · Hormone Research in Paediatrics · doi:10.1159/000084689 · Cited by 61 · see citing works
Neuromuscular complications of thyrotoxicosis
Kung, A. W. C. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02909.x · Cited by 46 · see citing works
Thyroid disease and the nervous system
Wood-Allum, C. A., & Shaw, P. J. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-7020-4087-0.00048-6 · Cited by 45 · see citing works
Dias-da-Silva, M. R., Chiamolera, M. I., Kasamatsu, T. S., Cerutti, J. M., & Maciel, R. M. B. (2004) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302004000100022 · Cited by 39 · see citing works
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Liu, Z., Braverman, L. E., & Malabanan, A. (2006) · Endocrine Practice · doi:10.4158/ep.12.4.427 · Cited by 38 · see citing works
Thyrotoxic, hypokalaemic periodic paralysis: Polynesians, an ethnic group at risk
Elston, M. S., Orr‐Walker, B., Dissanayake, A. M., & Conaglen, J. V. (2007) · Internal Medicine Journal · doi:10.1111/j.1445-5994.2007.01313.x · Cited by 34 · see citing works
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Phakdeekitcharoen, B., Ruang-Raksa, C., & Radinahamed, P. (2004) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfh328 · Cited by 33 · see citing works
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Fontaine, B., Fournier, E., Sternberg, D., Vicart, S., & Tabti, N. (2007) · Neurotherapeutics · doi:10.1016/j.nurt.2007.01.002 · Cited by 32 · see citing works
Lin, S., Cheng, N.-L., Hsu, Y., & Kao, M. (2005) · The American Journal of the Medical Sciences · doi:10.1097/00000441-200502000-00003 · Cited by 29 · see citing works
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Zhao, S., Liu, W., Liang, J., Gao, G.-Q., Zhang, X., Yao, Y., Wang, H., Yuan, F., Xue, L., Ma, Y., et al. (2019) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.3348 · Cited by 22 · see citing works
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Tagami, T., Usui, T., Shimatsu, A., & Naruse, M. (2007) · Endocrine Journal · doi:10.1507/endocrj.k07-126 · Cited by 17 · see citing works
Chen, D. Y., Schneider, P. F., Zhang, X. S., He, Z. M., & Chen, T. H. (2012) · Thyroid · doi:10.1089/thy.2011.0352 · Cited by 17 · see citing works
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Diedrich, D. A., & Wedel, D. J. (2006) · Journal of Clinical Anesthesia · doi:10.1016/j.jclinane.2005.08.016 · Cited by 14 · see citing works
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Kung, A. W. C., & Cheung, C. L. (2011) · doi:10.1093/med/9780198870197.003.0055 · Cited by 9 · see citing works
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Ozaki, H., Mori, K., Nakagawa, Y., Hoshikawa, S., Ito, S., & Yoshida, K. (2008) · Endocrine Journal · doi:10.1507/endocrj.k07e-017 · Cited by 8 · see citing works
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“1 ( CACNA1S ) gene has also been identified in patients with THPP from Brazil [20] and southern China [21].”
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Ptáček, L. J. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021458 · Cited by 4 · see citing works
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Tran, H. A. (2005) · Endocrine Journal · doi:10.1507/endocrj.52.651 · Cited by 2 · see citing works
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Krasnova, S. L., Topilow, A. A., Calissendorff, J., & Falhammar, H. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-76097-3.00006-5
(2005) · Springer eBooks · doi:10.1007/3-211-26802-2_12
Russell, J. W., Weiss, M. D., Distad, B. J., & Castellani, R. J. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1605-0_11
- Authors
- Dias da Silva, M. R., Cerutti, J. M., Tengan, C. H., Furuzawa, G. K., Vieira, T. C. A., Gabbai, A. A., & Maciel, R. M. B.
- Affiliations
- Pediatrics and Genetics (US)
- Universidade Federal de São Paulo (BR)
- Corresponding author
- Maciel, Rui M. B.
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2002-03
- Volume
- 56
- Issue
- 3
- Pages
- 367-375
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2116708479
- Cited by
- 50
- References
- 45
- Citations by year
- 2025: 1 · 2021: 2 · 2020: 2 · 2019: 2 · 2018: 1 · 2015: 1 · 2014: 3 · 2013: 2 · 2012: 2
- FWCI
- 1.74
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Americanae (AECID Library) (submittedVersion, other-oa)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo (97/14182-9, 99/03688-4)
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- 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
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Potassium and Related Disorders
- Keywords
- CaV1.1, L-type calcium channels, single nucleotide polymorphisms, exon 11, genetic association, thyrotoxicosis, hypokalemia, genotype-phenotype correlation
- MeSH terms
- Adult, Base Sequence, DNA Mutational Analysis, Female, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Polymorphism, Restriction Fragment Length, Thyroid Hormones, Thyrotoxicosis, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Hypokalemic Periodic Paralysis, Calcium Channels, L-Type
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