{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T10:23:39Z","timestamp":1772533419877,"version":"3.50.1"},"reference-count":106,"publisher":"PeerJ","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Supporting Discipline of Neurology in Jiaxing","award":["2023-ZC-006"],"award-info":[{"award-number":["2023-ZC-006"]}]},{"name":"Science and Technology Plan Project of Jiaxing","award":["2021AD30044"],"award-info":[{"award-number":["2021AD30044"]}]},{"name":"Affiliated Hospital of Jiaxing University","award":["2020-QMX-16"],"award-info":[{"award-number":["2020-QMX-16"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    Periodic paralysis (PP) is a group of ion channel diseases with incomplete autosomal dominant inheritance, except in sporadic patients. Ion channel gene mutations cause transient abnormalities in skeletal muscle excitability and muscle weakness. Different mutation sites cause different pathogenesis, which is very important for the classification, clinical manifestations, treatment and prognosis of periodic paralysis. Currently, the recognized mutated genes are\n                    <jats:italic>CACNA1S<\/jats:italic>\n                    (chromosome 1q31-32),\n                    <jats:italic>SCN4A<\/jats:italic>\n                    (chromosome 17q23-25),\n                    <jats:italic>KCNJ2<\/jats:italic>\n                    (chromosome 17q23), and\n                    <jats:italic>KCNJ18<\/jats:italic>\n                    (chromosome 17p11.2). The common mutation sites include R528H and R1239H in\n                    <jats:italic>CACNA1S<\/jats:italic>\n                    , and R672H and T704M in\n                    <jats:italic>SCN4A<\/jats:italic>\n                    . However, there is accumulating evidence that other mutation sites in\n                    <jats:italic>CACNA1S<\/jats:italic>\n                    and\n                    <jats:italic>SCN4A<\/jats:italic>\n                    , and even new ion channel mutations may induce periodic paralysis. Their different pathogenesis, clinical features and therapeutic measures have been widely described. This review will introduce the clinical manifestations of periodic paralysis, the different mutation sites of each ion channel, and the pathogenesis. Based on the clinical types of periodic paralysis, the characteristics of the latter are further discussed.\n                  <\/jats:p>","DOI":"10.7717\/peerj.20840","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T08:32:21Z","timestamp":1772526741000},"page":"e20840","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features and advances in the genetics of periodic paralysis"],"prefix":"10.7717","volume":"14","author":[{"given":"Man","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Jiaxing University, Jiaxing, Zhejiang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beibei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory, Affiliated Hospital of Jiaxing University, Jiaxing, Zhejiang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junjie","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Jiaxing University, Jiaxing, Zhejiang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danyang","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Jiaxing University, Jiaxing, Zhejiang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4443","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"key":"10.7717\/peerj.20840\/ref-1","doi-asserted-by":"publisher","first-page":"1539","DOI":"10.1016\/j.lpm.2008.07.024","article-title":"Thyrotoxic hypokalemic periodic pseudoparalysis: the role of propranolol treatment","volume":"38","author":"Abouzahir","year":"2009","journal-title":"La Presse M\u00e9dicale"},{"key":"10.7717\/peerj.20840\/ref-2","doi-asserted-by":"publisher","first-page":"3245","DOI":"10.1113\/JP271930","article-title":"Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome","volume":"594","author":"Adams","year":"2016","journal-title":"The Journal of Physiology"},{"key":"10.7717\/peerj.20840\/ref-3","doi-asserted-by":"publisher","first-page":"2592","DOI":"10.1161\/01.CIR.0000019906.35135.A3","article-title":"Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia","volume":"105","author":"Ai","year":"2002","journal-title":"Circulation"},{"key":"10.7717\/peerj.20840\/ref-4","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.ando.2023.01.007","article-title":"Thyrotoxic periodic paralysis associated with lactic metabolic acidosis: case report of an African man and review of literature","volume":"84","author":"Allard","year":"2023","journal-title":"Annals of Endocrinology"},{"key":"10.7717\/peerj.20840\/ref-5","doi-asserted-by":"publisher","first-page":"2019","DOI":"10.1113\/jp274955","article-title":"When muscle Ca(2+) channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis","volume":"596","author":"Allard","year":"2018","journal-title":"The Journal of Physiology"},{"key":"10.7717\/peerj.20840\/ref-6","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1085\/jgp.201511476","article-title":"Understanding the physiology of the asymptomatic diaphragm of the M1592V hyperkalemic periodic paralysis mouse","volume":"146","author":"Ammar","year":"2015","journal-title":"Journal of General Physiology"},{"key":"10.7717\/peerj.20840\/ref-7","doi-asserted-by":"publisher","first-page":"478","DOI":"10.33588\/rn.6310.2016385","article-title":"Familiar hypokalemic periodic paralysis: an uncommon cause of acute flaccid paralysis","volume":"63","author":"Aquino","year":"2016","journal-title":"Revue Neurologique"},{"key":"10.7717\/peerj.20840\/ref-8","doi-asserted-by":"publisher","first-page":"1810","DOI":"10.1212\/01.wnl.0000436067.43384.0b","article-title":"Episodic weakness due to mitochondrial DNA MT-ATP6\/8 mutations","volume":"81","author":"Aure","year":"2013","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-9","first-page":"125","article-title":"Hypokalemic periodic paralysis as a presenting manifestation of thyrotoxicosis","volume":"9","author":"Banzal","year":"2004","journal-title":"Neurosciences"},{"key":"10.7717\/peerj.20840\/ref-10","first-page":"573","article-title":"Thyrotoxic hypokalemic periodic paralysis as the presenting symptom in a young Ashkenazi Jewish man","volume":"11","author":"Barski","year":"2009","journal-title":"The Israel Medical Association Journal"},{"key":"10.7717\/peerj.20840\/ref-11","doi-asserted-by":"publisher","first-page":"e35548","DOI":"10.7759\/cureus.35548","article-title":"Thyrotoxic periodic paralysis with severe hypokalemia precipitated by acute alcohol intoxication in a patient with graves\u2019 disease","volume":"15","author":"Batra","year":"2023","journal-title":"Cureus"},{"key":"10.7717\/peerj.20840\/ref-12","first-page":"301","article-title":"Thyrotoxic periodic paralysis, an unusual cause of hypokalemic periodic paralysis","volume":"96","author":"Berwaerts","year":"1996","journal-title":"Acta Neurologica Belgica"},{"key":"10.7717\/peerj.20840\/ref-13","doi-asserted-by":"publisher","first-page":"76","DOI":"10.3389\/fncel.2018.00076","article-title":"A novel KCNJ2 mutation identified in an autistic proband affects the single channel properties of Kir2.1","volume":"12","author":"Binda","year":"2018","journal-title":"Frontiers in Cellular Neuroscience"},{"key":"10.7717\/peerj.20840\/ref-14","first-page":"183","article-title":"Cloning and expression of a family of inward rectifier potassium channels","volume":"2","author":"Bond","year":"1994","journal-title":"Receptors Channels"},{"key":"10.7717\/peerj.20840\/ref-15","first-page":"89","article-title":"Molecular basis for hyperkalemic periodic paralysis","volume":"25-26","author":"Brown Jr","year":"1991","journal-title":"International Journal of Neurology"},{"key":"10.7717\/peerj.20840\/ref-16","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/s10048-021-00673-2","article-title":"Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes","volume":"23","author":"Brugnoni","year":"2022","journal-title":"Neurogenetics"},{"key":"10.7717\/peerj.20840\/ref-17","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s11910-011-0238-3","article-title":"Novel insights into the pathomechanisms of skeletal muscle channelopathies","volume":"12","author":"Burge","year":"2012","journal-title":"Current Neurology and Neuroscience Reports"},{"key":"10.7717\/peerj.20840\/ref-18","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1002\/cphy.c140062","article-title":"Channelopathies of skeletal muscle excitability","volume":"5","author":"Cannon","year":"2015","journal-title":"Comprehensive Physiology"},{"key":"10.7717\/peerj.20840\/ref-19","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1007\/164_2017_52","article-title":"Sodium channelopathies of skeletal muscle","volume":"246","author":"Cannon","year":"2018","journal-title":"Handbook of Experimental Pharmacology"},{"key":"10.7717\/peerj.20840\/ref-20","doi-asserted-by":"publisher","first-page":"2606","DOI":"10.1007\/s00415-013-7025-9","article-title":"Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals","volume":"260","author":"Charles","year":"2013","journal-title":"Journal of Neurology"},{"key":"10.7717\/peerj.20840\/ref-21","first-page":"166","article-title":"Hypokalemic paralysis due to renal tubular acidosis: uncommon initial manifestation of primary Sj\u00f6gren\u2019s syndrome","volume":"2","author":"Correia","year":"2023","journal-title":"ARP Rheumatology"},{"key":"10.7717\/peerj.20840\/ref-22","doi-asserted-by":"publisher","first-page":"3171","DOI":"10.1093\/brain\/awu292","article-title":"Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis","volume":"137","author":"Corrochano","year":"2014","journal-title":"Brain"},{"key":"10.7717\/peerj.20840\/ref-23","doi-asserted-by":"publisher","first-page":"157","DOI":"10.5603\/EP.a2022.0004","article-title":"Thyrotoxic myopathy: research status, diagnosis, and treatment","volume":"73","author":"Cui","year":"2022","journal-title":"Endokrynologia Polska"},{"key":"10.7717\/peerj.20840\/ref-24","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1016\/0896-6273(93)90168-Q","article-title":"Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis","volume":"10","author":"Cummins","year":"1993","journal-title":"Journal of Neuron"},{"key":"10.7717\/peerj.20840\/ref-25","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1385\/ENDO:27:1:063","article-title":"Thyrotoxic hypokalemic periodic paralysis in a Turkish male with graves\u2019 disease: a rare case report and review of the literature","volume":"27","author":"Erem","year":"2005","journal-title":"Endocrine"},{"key":"10.7717\/peerj.20840\/ref-26","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1111\/cge.12880","article-title":"Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na(v) 1.4 cause periodic paralysis","volume":"91","author":"Fan","year":"2017","journal-title":"Clinical Genetics"},{"key":"10.7717\/peerj.20840\/ref-27","doi-asserted-by":"publisher","first-page":"e10112","DOI":"10.7759\/cureus.10112","article-title":"Primary periodic paralyses: a review of etiologies and their pathogeneses","volume":"12","author":"Farooque","year":"2020","journal-title":"Cureus"},{"key":"10.7717\/peerj.20840\/ref-28","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/b978-0-444-64076-5.00032-6","article-title":"Periodic paralysis","volume":"148","author":"Fialho","year":"2018","journal-title":"Handbook of Clinical Neurology"},{"key":"10.7717\/peerj.20840\/ref-29","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1111\/j.1600-0404.2007.00963.x","article-title":"Primary periodic paralyses","volume":"117","author":"Finsterer","year":"2008","journal-title":"Acta Neurologica Scandinavica"},{"key":"10.7717\/peerj.20840\/ref-30","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1016\/s1051-0443(94)71593-1","article-title":"Stent-induced intimal hyperplasia: are there fundamental differences between flexible and rigid stent designs?","volume":"5","author":"Fontaine","year":"1994","journal-title":"Journal of Vascular and Interventional Radiology"},{"key":"10.7717\/peerj.20840\/ref-31","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1002\/ana.20241","article-title":"Electromyography guides toward subgroups of mutations in muscle channelopathies","volume":"56","author":"Fournier","year":"2004","journal-title":"Annals of Neurology"},{"key":"10.7717\/peerj.20840\/ref-32","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1212\/WNL.0b013e318219fb57","article-title":"Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia","volume":"76","author":"Francis","year":"2011","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-33","doi-asserted-by":"publisher","first-page":"2231","DOI":"10.2174\/1871530321666210719114937","article-title":"Genetic screening of patients with thyrotoxic hypokalemic periodic paralysis: an experience from a tertiary care hospital in the Northeast of Brazil","volume":"21","author":"Gbefon","year":"2021","journal-title":"Endocrine, Metabolic & Immune Disorders-Drug Targets"},{"key":"10.7717\/peerj.20840\/ref-34","doi-asserted-by":"publisher","first-page":"R864","DOI":"10.1152\/ajpregu.1998.274.3.R864","article-title":"Thyroid hormone-induced upregulation of Na+ channels and Na(+)-K+ pumps: implications for contractility","volume":"274","author":"Harrison","year":"1998","journal-title":"American Journal of Physiology"},{"key":"10.7717\/peerj.20840\/ref-35","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1530\/eje-20-0523","article-title":"Genome-wide meta-analysis reveals novel susceptibility loci for thyrotoxic periodic paralysis","volume":"183","author":"Hoi-Yee Li","year":"2020","journal-title":"European Journal of Endocrinology"},{"key":"10.7717\/peerj.20840\/ref-36","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","article-title":"Prevalence study of genetically defined skeletal muscle channelopathies in England","volume":"80","author":"Horga","year":"2013","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-37","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1111\/j.1468-1331.2008.02132.x","article-title":"Hypokalemic thyrotoxic periodic paralysis: clinical characteristics and predictors of recurrent paralytic attacks","volume":"15","author":"Hsieh","year":"2008","journal-title":"European Journal of Neurology"},{"key":"10.7717\/peerj.20840\/ref-38","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1080\/19336950.2019.1600967","article-title":"Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review","volume":"13","author":"Huang","year":"2019","journal-title":"Channels"},{"key":"10.7717\/peerj.20840\/ref-39","first-page":"1464","article-title":"Familial hypokalemic periodic paralysis","volume":"11","author":"Ikeda","year":"2001","journal-title":"Clinical Calcium"},{"key":"10.7717\/peerj.20840\/ref-40","doi-asserted-by":"publisher","first-page":"4529009","DOI":"10.1155\/2021\/4529009","article-title":"Hypokalemic periodic paralysis precipitated by thyrotoxicosis and renal tubular acidosis","volume":"2021","author":"Jackson","year":"2021","journal-title":"Case Reports in Endocrinology"},{"key":"10.7717\/peerj.20840\/ref-41","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1097\/wnp.0000000000000405","article-title":"Long exercise test in the interattack period of periodic paralysis: a useful and sensitive diagnostic tool","volume":"34","author":"Jin","year":"2017","journal-title":"Journal of Clinical Neurophysiology"},{"key":"10.7717\/peerj.20840\/ref-42","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1038\/jhg.2009.92","article-title":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family","volume":"54","author":"Ke","year":"2009","journal-title":"Journal of Human Genetics"},{"key":"10.7717\/peerj.20840\/ref-43","doi-asserted-by":"publisher","first-page":"e12656","DOI":"10.14814\/phy2.12656","article-title":"Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis","volume":"3","author":"Khogali","year":"2015","journal-title":"Physiological Reports"},{"key":"10.7717\/peerj.20840\/ref-44","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/j.ejpn.2009.08.004","article-title":"Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis","volume":"14","author":"Kil","year":"2010","journal-title":"European Journal of Paediatric Neurology"},{"key":"10.7717\/peerj.20840\/ref-45","doi-asserted-by":"publisher","first-page":"16681","DOI":"10.1038\/s41598-018-34750-8","article-title":"A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs","volume":"8","author":"Kokunai","year":"2018","journal-title":"Scientific Reports"},{"key":"10.7717\/peerj.20840\/ref-46","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1212\/WNL.0000000000000239","article-title":"A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1","volume":"82","author":"Kokunai","year":"2014","journal-title":"Journal of Neurology"},{"key":"10.7717\/peerj.20840\/ref-47","doi-asserted-by":"publisher","first-page":"222","DOI":"10.2174\/1573403x10666140514102528","article-title":"Electrocardiogram in Andersen-Tawil syndrome, New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome","volume":"10","author":"Kukla","year":"2014","journal-title":"Current Cardiology Reviews"},{"key":"10.7717\/peerj.20840\/ref-48","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1210\/jc.2003-030924","article-title":"Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis","volume":"89","author":"Kung","year":"2004","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"10.7717\/peerj.20840\/ref-49","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.bbrep.2017.01.002","article-title":"Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes","volume":"9","author":"Kuroda","year":"2017","journal-title":"Biochemistry and Biophysics Reports"},{"key":"10.7717\/peerj.20840\/ref-50","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1093\/brain\/awf071","article-title":"Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II","volume":"125","author":"Kuzmenkin","year":"2002","journal-title":"Brain"},{"key":"10.7717\/peerj.20840\/ref-51","doi-asserted-by":"publisher","first-page":"9526","DOI":"10.1074\/jbc.M110.170597","article-title":"Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels","volume":"286","author":"Lior","year":"2011","journal-title":"Journal of Biological Chemistry"},{"key":"10.7717\/peerj.20840\/ref-52","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1136\/jmg.2006.040816","article-title":"Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome","volume":"43","author":"Lu","year":"2006","journal-title":"Journal of Medical Genetics"},{"key":"10.7717\/peerj.20840\/ref-53","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1152\/physiolgenomics.00166.2013","article-title":"Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content","volume":"46","author":"Lucas","year":"2014","journal-title":"Physiol Genomics"},{"key":"10.7717\/peerj.20840\/ref-54","doi-asserted-by":"publisher","first-page":"867475","DOI":"10.1155\/2011\/867475","article-title":"Thyrotoxic periodic paralysis: case reports and an up-to-date review of the literature","volume":"2011","author":"Lulsegged","year":"2011","journal-title":"Case Reports in Endocrinology"},{"key":"10.7717\/peerj.20840\/ref-55","doi-asserted-by":"publisher","first-page":"9714","DOI":"10.1038\/s41598-018-27822-2","article-title":"Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4","volume":"8","author":"Luo","year":"2018","journal-title":"Scientific Reports"},{"key":"10.7717\/peerj.20840\/ref-56","doi-asserted-by":"publisher","first-page":"500","DOI":"10.4161\/chan.5.6.18524","article-title":"Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome","volume":"5","author":"Marrus","year":"2011","journal-title":"Channels"},{"key":"10.7717\/peerj.20840\/ref-57","doi-asserted-by":"publisher","first-page":"1544","DOI":"10.1212\/01.wnl.0000342387.65477.46","article-title":"Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis","volume":"72","author":"Matthews","year":"2009","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-58","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1212\/WNL.0b013e31823a0cb6","article-title":"Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype","volume":"77","author":"Matthews","year":"2011","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-59","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1136\/bmj.1.5538.451","article-title":"Periodic paralysis complicating thyrotoxicosis in Chinese","volume":"1","author":"Mcfadzean","year":"1967","journal-title":"British Medical Journal"},{"key":"10.7717\/peerj.20840\/ref-60","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1093\/jnen\/nlaa098","article-title":"Morphological alterations of the sarcotubular system in permanent myopathy of hereditary hypokalemic periodic paralysis with a mutation in the CACNA1S gene","volume":"79","author":"Nagasaka","year":"2020","journal-title":"Journal of Neuropathology & Experimental Neurology"},{"key":"10.7717\/peerj.20840\/ref-61","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1089\/105072504773297858","article-title":"Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis","volume":"14","author":"Ng","year":"2004","journal-title":"Journal of Thyroid"},{"key":"10.7717\/peerj.20840\/ref-62","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ijcard.2013.10.010","article-title":"Andersen-Tawil syndrome: clinical and molecular aspects","volume":"170","author":"Nguyen","year":"2013","journal-title":"International Journal of Cardiology"},{"key":"10.7717\/peerj.20840\/ref-63","first-page":"694","article-title":"Thyroid hypokalemic periodic paralysis","volume":"98","author":"Nida","year":"1998","journal-title":"The Journal of the American Osteopathic Association"},{"key":"10.7717\/peerj.20840\/ref-64","doi-asserted-by":"publisher","first-page":"6338","DOI":"10.1210\/jc.2019-00672","article-title":"Contribution of Asian haplotype of KCNJ18 to susceptibility to and ethnic differences in thyrotoxic periodic paralysis","volume":"104","author":"Noso","year":"2019","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"10.7717\/peerj.20840\/ref-65","first-page":"579","article-title":"Thyrotoxic hypokalemic periodic paralysis in a Philippine man","volume":"8","author":"Ovadia","year":"2006","journal-title":"The Israel Medical Association Journal"},{"key":"10.7717\/peerj.20840\/ref-66","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.neuroscience.2017.01.019","article-title":"Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to thyrotoxic periodic paralysis","volume":"346","author":"Paninka","year":"2017","journal-title":"Neuroscience"},{"key":"10.7717\/peerj.20840\/ref-67","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1177\/0049475518803251","article-title":"Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men","volume":"49","author":"Pannu","year":"2019","journal-title":"Tropical Doctor"},{"key":"10.7717\/peerj.20840\/ref-68","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1002\/mus.25453","article-title":"Episodic weakness and Charcot-marie\u2013tooth disease due to a mitochondrial MT-ATP6 mutation","volume":"55","author":"Panosyan","year":"2017","journal-title":"Muscle & Nerve"},{"key":"10.7717\/peerj.20840\/ref-69","doi-asserted-by":"publisher","first-page":"909","DOI":"10.3345\/kjp.2010.53.10.909","article-title":"An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A","volume":"53","author":"Park","year":"2010","journal-title":"Korean Journal of Pediatrics"},{"key":"10.7717\/peerj.20840\/ref-70","doi-asserted-by":"publisher","first-page":"148","DOI":"10.3121\/cmr.2021.1610","article-title":"Thyrotoxic periodic paralysis: a case report and literature review","volume":"19","author":"Patel","year":"2021","journal-title":"Clinical Medicine & Research"},{"key":"10.7717\/peerj.20840\/ref-71","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1097\/crd.0000000000000326","article-title":"Andersen-Tawil syndrome: a comprehensive review","volume":"29","author":"P\u00e9rez-Riera","year":"2021","journal-title":"Cardiology in Review"},{"key":"10.7717\/peerj.20840\/ref-72","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0003-3944(02)00742-3","article-title":"Thyrotoxic hypokalemic periodic paralysis, Report of three cases","volume":"127","author":"Pili","year":"2002","journal-title":"Annales de Chirurgie"},{"key":"10.7717\/peerj.20840\/ref-73","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","article-title":"Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen\u2019s syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"key":"10.7717\/peerj.20840\/ref-74","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1002\/mus.27465","article-title":"The long exercise test as a functional marker of periodic paralysis","volume":"65","author":"Ribeiro","year":"2022","journal-title":"Muscle & Nerve"},{"key":"10.7717\/peerj.20840\/ref-75","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/S0733-8619(18)30856-9","article-title":"The periodic paralyses","volume":"6","author":"Riggs","year":"1988","journal-title":"Neurologic Clinics"},{"key":"10.7717\/peerj.20840\/ref-76","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.cell.2009.12.024","article-title":"Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis","volume":"140","author":"Ryan","year":"2010","journal-title":"Cell"},{"key":"10.7717\/peerj.20840\/ref-77","doi-asserted-by":"publisher","first-page":"3308","DOI":"10.1093\/brain\/awy283","article-title":"A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms","volume":"141","author":"Sampedro Casta\u00f1eda","year":"2018","journal-title":"Brain"},{"key":"10.7717\/peerj.20840\/ref-78","first-page":"362","article-title":"Thyrotoxic hypokalemic periodic paralysis in a Native American patient: case report and literature review","volume":"8","author":"Seshadri","year":"2002","journal-title":"Endocrine Practice"},{"key":"10.7717\/peerj.20840\/ref-79","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1001\/archneur.1988.00520290119024","article-title":"Acute paralysis from inhaled barium carbonate","volume":"45","author":"Shankle","year":"1988","journal-title":"Archives of Neurology"},{"key":"10.7717\/peerj.20840\/ref-80","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/mus.26157","article-title":"Long exercise test in periodic paralysis: a Bayesian analysis","volume":"59","author":"Simmons","year":"2019","journal-title":"Muscle & Nerve"},{"key":"10.7717\/peerj.20840\/ref-81","first-page":"32","article-title":"Andersen-Tawil syndrome","volume":"6","author":"Smith","year":"2006","journal-title":"Indian Pacing and Electrophysiology Journal"},{"key":"10.7717\/peerj.20840\/ref-82","doi-asserted-by":"publisher","first-page":"378","DOI":"10.4103\/ijccm.IJCCM_369_17","article-title":"Thyrotoxic hypokalemic periodic paralysis","volume":"22","author":"Sonkar","year":"2018","journal-title":"Indian Journal of Critical Care Medicine"},{"key":"10.7717\/peerj.20840\/ref-83","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1177\/0036933017727420","article-title":"Hypokalaemia periodic paralysis","volume":"63","author":"Stapleton","year":"2018","journal-title":"Scottish Medical Journal"},{"key":"10.7717\/peerj.20840\/ref-84","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1038\/nature02270","article-title":"A proton pore in a potassium channel voltage sensor reveals a focused electric field","volume":"427","author":"Starace","year":"2004","journal-title":"Nature"},{"key":"10.7717\/peerj.20840\/ref-85","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1016\/S0896-6273(00)80422-5","article-title":"Voltage-dependent proton transport by the voltage sensor of the Shaker K+ channel","volume":"19","author":"Starace","year":"1997","journal-title":"Neuron"},{"key":"10.7717\/peerj.20840\/ref-86","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1002\/mus.26009","article-title":"Review of the diagnosis and treatment of periodic paralysis","volume":"57","author":"Statland","year":"2018","journal-title":"Muscle & Nerve"},{"key":"10.7717\/peerj.20840\/ref-87","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1085\/jgp.200709755","article-title":"A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore","volume":"130","author":"Struyk","year":"2007","journal-title":"Journal of General Physiology"},{"key":"10.7717\/peerj.20840\/ref-88","doi-asserted-by":"publisher","first-page":"914","DOI":"10.1212\/01.WNL.0000086820.54065.A0","article-title":"Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis","volume":"61","author":"Sugiura","year":"2003","journal-title":"Neurology"},{"key":"10.7717\/peerj.20840\/ref-89","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1002\/ana.22238","article-title":"Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies","volume":"69","author":"Tan","year":"2011","journal-title":"Annals of Neurology"},{"key":"10.7717\/peerj.20840\/ref-90","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jnnp.2003.013870","article-title":"The exercise test as a monitor of disease status in hypokalaemic periodic paralysis","volume":"75","author":"Tengan","year":"2004","journal-title":"Journal of Neurology, Neurosurgery and Psychiatry"},{"key":"10.7717\/peerj.20840\/ref-91","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.neuron.2004.12.047","article-title":"Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores","volume":"45","author":"Tombola","year":"2005","journal-title":"Neuron"},{"key":"10.7717\/peerj.20840\/ref-92","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1016\/j.nmd.2017.09.001","article-title":"Clinical heterogeneity in Andersen-Tawil syndrome","volume":"27","author":"Totomoch-Serra","year":"2017","journal-title":"Neuromuscular Disorders"},{"key":"10.7717\/peerj.20840\/ref-93","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1093\/brain\/awh639","article-title":"The primary periodic paralyses: diagnosis, pathogenesis and treatment","volume":"129","author":"Venance","year":"2006","journal-title":"Brain"},{"key":"10.7717\/peerj.20840\/ref-94","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1080\/14737159.2023.2288258","article-title":"Diagnostics in skeletal muscle channelopathies","volume":"23","author":"Vicino","year":"2023","journal-title":"Expert Review of Molecular Diagnostics"},{"key":"10.7717\/peerj.20840\/ref-95","doi-asserted-by":"publisher","first-page":"e68","DOI":"10.1016\/j.semerg.2012.08.005","article-title":"Thyrotoxic hypokalemic periodic paralysis. A case report","volume":"39","author":"Villar Jimenez","year":"2013","journal-title":"Semergen"},{"key":"10.7717\/peerj.20840\/ref-96","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/b978-0-323-98818-6.00006-6","article-title":"Muscle channelopathies","volume":"195","author":"Vivekanandam","year":"2023","journal-title":"Handbook of Clinical Neurology"},{"key":"10.7717\/peerj.20840\/ref-97","doi-asserted-by":"publisher","first-page":"6267","DOI":"10.3892\/mmr.2015.4201","article-title":"Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis","volume":"12","author":"Wang","year":"2015","journal-title":"Molecular Medicine Reports"},{"key":"10.7717\/peerj.20840\/ref-98","volume-title":"Hypokalemic periodic paralysis","author":"Weber","year":"1993"},{"key":"10.7717\/peerj.20840\/ref-99","doi-asserted-by":"publisher","first-page":"4082","DOI":"10.1172\/JCI57398","article-title":"A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis","volume":"121","author":"Wu","year":"2011","journal-title":"The Journal of Clinical Investigation"},{"key":"10.7717\/peerj.20840\/ref-100","doi-asserted-by":"publisher","first-page":"3766","DOI":"10.1093\/brain\/awt280","article-title":"Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis","volume":"136","author":"Wu","year":"2013","journal-title":"Brain"},{"key":"10.7717\/peerj.20840\/ref-101","doi-asserted-by":"publisher","first-page":"247","DOI":"10.2310\/8000.2013.130867","article-title":"Thyrotoxic periodic paralysis triggered by \u03b22-adrenergic bronchodilators","volume":"16","author":"Yeh","year":"2014","journal-title":"Canadian Journal of Emergency Medicine"},{"key":"10.7717\/peerj.20840\/ref-102","doi-asserted-by":"publisher","first-page":"1078195","DOI":"10.3389\/fneur.2023.1078195","article-title":"Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan","volume":"14","author":"Yuan","year":"2023","journal-title":"Frontiers in Neurology"},{"key":"10.7717\/peerj.20840\/ref-103","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1093\/qjmed\/hcw091","article-title":"Thyrotoxic hypokalemic periodic paralysis","volume":"109","author":"Zayac","year":"2016","journal-title":"QJM: An International Journal of Medicine"},{"key":"10.7717\/peerj.20840\/ref-104","doi-asserted-by":"publisher","first-page":"2720","DOI":"10.1161\/circulationaha.104.472498","article-title":"Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype","volume":"111","author":"Zhang","year":"2005","journal-title":"Circulation"},{"key":"10.7717\/peerj.20840\/ref-105","doi-asserted-by":"publisher","first-page":"1078784","DOI":"10.3389\/fneur.2022.1078784","article-title":"Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis","volume":"13","author":"Zhang","year":"2022","journal-title":"Frontiers in Neurology"},{"key":"10.7717\/peerj.20840\/ref-106","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.nmd.2009.12.005","article-title":"Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene","volume":"20","author":"Zhou","year":"2010","journal-title":"Neuromuscular Disorders"}],"container-title":["PeerJ"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/peerj.com\/articles\/20840.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/peerj.com\/articles\/20840.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/peerj.com\/articles\/20840.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/peerj.com\/articles\/20840.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T08:32:25Z","timestamp":1772526745000},"score":1,"resource":{"primary":{"URL":"https:\/\/peerj.com\/articles\/20840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,3]]},"references-count":106,"alternative-id":["10.7717\/peerj.20840"],"URL":"https:\/\/doi.org\/10.7717\/peerj.20840","archive":["CLOCKSS","LOCKSS","Portico"],"relation":{},"ISSN":["2167-8359"],"issn-type":[{"value":"2167-8359","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,3]]},"article-number":"e20840"}}