{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:28:24Z","timestamp":1791822504033,"version":"4.3.4"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:sec><jats:title>Background\u2014<\/jats:title><jats:p>Mutations of<jats:italic>KCNJ2<\/jats:italic>, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, some<jats:italic>KCNJ2<\/jats:italic>mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ventricular tachycardia (CPVT). We investigated clinical and biophysical characteristics of<jats:italic>KCNJ2<\/jats:italic>mutation carriers with \u201catypical ATS.\u201d<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results\u2014<\/jats:title><jats:p>Mutational analyses of<jats:italic>KCNJ2<\/jats:italic>were performed in 57 unrelated probands showing typical (\u22652 ATS features) and atypical (only 1 of the ATS features or CPVT) ATS. We identified 24 mutation carriers. Mutation-positive rates were 75% (15\/20) in typical ATS, 71% (5\/7) in cardiac phenotype alone, 100% (2\/2) in periodic paralysis, and 7% (2\/28) in CPVT. We divided all carriers (n=45, including family members) into 2 groups: typical ATS (A) (n=21, 47%) and atypical phenotype (B) (n=24, 53%). Patients in (A) had a longer QUc interval [(A): 695\u00b152 versus (B): 643\u00b135 ms] and higher U-wave amplitude (0.24\u00b10.07 versus 0.18\u00b10.08 mV). C-terminal mutations were more frequent in (A) (85% versus 38%,<jats:italic>P<\/jats:italic>&lt;0.05). There were no significant differences in incidences of ventricular tachyarrhythmias. Functional analyses of 4 mutations found in (B) revealed that R82Q, R82W, and G144D exerted strong dominant negative suppression (current reduction by 95%, 97%, and 96%, respectively, versus WT at \u221250 mV) and T305S moderate suppression (reduction by 89%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions\u2014<\/jats:title><jats:p><jats:italic>KCNJ2<\/jats:italic>gene screening in atypical ATS phenotypes is of clinical importance because more than half of mutation carriers express atypical phenotypes, despite their arrhythmia severity.<\/jats:p><\/jats:sec>","DOI":"10.1161\/circgenetics.111.962316","type":"journal-article","created":{"date-parts":[[2012,5,17]],"date-time":"2012-05-17T13:22:36Z","timestamp":1337260956000},"page":"344-353","source":"Crossref","is-referenced-by-count":98,"title":["Phenotype Variability in Patients Carrying<i>KCNJ2<\/i>Mutations"],"prefix":"10.1161","volume":"5","author":[{"given":"Hiromi","family":"Kimura","sequence":"first","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhou","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihoko","family":"Kawamura","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Itoh","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Mizusawa","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Guang","family":"Ding","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Wu","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiko","family":"Ohno","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeru","family":"Makiyama","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akashi","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobu","family":"Naiki","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Xie","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsugutoshi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Tateno","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihide","family":"Nakamura","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Jin","family":"Zang","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; 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the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Horie","sequence":"additional","affiliation":[{"name":"From the Department of Cardiovascular and Respiratory Medicine (H.K., J.Z., M.K., H.I., Y.M., J.W., S.O., A.M., N.N., Q.W., M.I., M.H.) and the Department of Physiology (W.-G.D., Y.X., H.M.), Shiga University of Medical Science, Otsu, Japan; the Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan (T.M.); the Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan (T.S.); the Department of Pediatrics, Chiba Cardiovascular..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1971.tb06990.x"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350313"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000019906.35135.a3"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1540-8167.2004.03212.x"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.110.958157"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9483"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2006.03.025"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000020013.73106.D8"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090805"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15183"},{"key":"e_1_3_4_14_2","first-page":"353","article-title":"An analysis of the time relations of electro-cardiograms","volume":"7","author":"Bazett HC","year":"1920","unstructured":"Bazett HC. 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