<?xml version="1.0" encoding="UTF-8"?> <!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.2d1 20170631//EN" "JATS-journalpublishing1.dtd"> <ArticleSet> <Article> <Journal> <PublisherName>jmedicalcasereports</PublisherName> <JournalTitle>Frontiers in Medical Case Reports</JournalTitle> <PISSN>I</PISSN> <EISSN>S</EISSN> <Volume-Issue>Volume 4; Issue 3</Volume-Issue> <PartNumber/> <IssueTopic>Multidisciplinary</IssueTopic> <IssueLanguage>English</IssueLanguage> <Season>(May-Jun, 2023)</Season> <SpecialIssue>N</SpecialIssue> <SupplementaryIssue>N</SupplementaryIssue> <IssueOA>Y</IssueOA> <PubDate> <Year>-0001</Year> <Month>11</Month> <Day>30</Day> </PubDate> <ArticleType>Medical Case Reports</ArticleType> <ArticleTitle>A Rare Case of Anderson Tawil Syndrome</ArticleTitle> <SubTitle/> <ArticleLanguage>English</ArticleLanguage> <ArticleOA>Y</ArticleOA> <FirstPage>1</FirstPage> <LastPage>6</LastPage> <AuthorList> <Author> <FirstName>Sagar</FirstName> <LastName>Nagpal</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>N</CorrespondingAuthor> <ORCID/> <FirstName>Sindhu C.</FirstName> <LastName>Pokhriyal</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> <FirstName>Pooja</FirstName> <LastName>Bhandari</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> <FirstName>Mohammad Amaan</FirstName> <LastName>Parvez</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> <FirstName>Rami</FirstName> <LastName>Dalbah</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> <FirstName>Suyog</FirstName> <LastName>Patel</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> <FirstName>Keerthana C.</FirstName> <LastName>Gottipati</LastName> <AuthorLanguage>English</AuthorLanguage> <Affiliation/> <CorrespondingAuthor>Y</CorrespondingAuthor> <ORCID/> </Author> </AuthorList> <DOI/> <Abstract>Andersen Tawil Syndrome (ATS) is a rare disorder, the prevalence of which is one in a million. We present case of a 37-year-old female with a long-standing history of periodic paralysis, and ventricular arrhythmias. She presented with generalized weakness which resolved with potassium supplementation. Genetic workup revealed KCNJ2 mutation.</Abstract> <AbstractLanguage>English</AbstractLanguage> <Keywords>Electrophysiology,Genetic Disorders,Anderson Tawil Syndrome,Ventricular Tachycardia</Keywords> <URLs> <Abstract>https://www.jmedicalcasereports.org/ubijournal-v1copy/journals/abstract.php?article_id=14551&title=A Rare Case of Anderson Tawil Syndrome</Abstract> </URLs> <References> <ReferencesarticleTitle>References</ReferencesarticleTitle> <ReferencesfirstPage>16</ReferencesfirstPage> <ReferenceslastPage>19</ReferenceslastPage> <References>Kim JB, Chung KW. Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. Pediatr Neurol 2009; 41: 464-466. Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M. Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. Curr Cardiol Rev 2014; 10: 222-228. Pegan S, Arrabit C, Slesinger PA, Choe S. Andersenand;#39;s syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1. Biochemistry 2006; 45: 8599-8606. Pitt GS, editor. Ion channels in health and disease - 1st Edition. Academic Press; 2016 Jul 11. (Available at: https://www.elsevier.com/books/ion-channels-in-health-and-disease/pitt/978-0-12-802002-9) Zhang L. Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz P, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, and Vincent M. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations. Characteristic TU-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 2720-2726.</References> </References> </Journal> </Article> </ArticleSet>