{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T12:11:13Z","timestamp":1792411873122,"version":"4.4.0"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation Research"],"published-print":{"date-parts":[[1999,2,19]]},"abstract":"<jats:p>\n            <jats:italic>Abstract<\/jats:italic>\n            \u2014The voltage-gated K\n            <jats:sup>+<\/jats:sup>\n            channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K\n            <jats:sup>+<\/jats:sup>\n            homeostasis in the inner ear. Mutations in the human\n            <jats:italic>KCNQ1<\/jats:italic>\n            gene encoding the \u03b1 subunit of the KVLQT1 channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this cardiac disease, the Romano-Ward syndrome, is characterized by a prolongation of the QT interval, ventricular arrhythmias, and sudden death. The autosomal recessive form, the Jervell and Lange-Nielsen syndrome, also includes bilateral deafness. In the present study, we report the entire genomic structure of\n            <jats:italic>KCNQ1<\/jats:italic>\n            , which consists of 19 exons spanning 400 kb on chromosome 11p15.5. We describe the sequences of exon-intron boundaries and oligonucleotide primers that allow polymerase chain reaction (PCR) amplification of exons from genomic DNA. Two new (CA)\n            <jats:sub>n<\/jats:sub>\n            repeat microsatellites were found in introns 10 and 14. The present study provides helpful tools for the linkage analysis and mutation screening of the complete\n            <jats:italic>KCNQ1<\/jats:italic>\n            gene. By use of these tools, five novel mutations were identified in LQTS patients by PCR\u2013single-strand conformational polymorphism (SSCP) analysis in the C-terminal part of\n            <jats:italic>KCNQ1<\/jats:italic>\n            : two missense mutations, a 20-bp and 1-bp deletions, and a 1-bp insertion. Such mutations in the C-terminal domain of the gene may be more frequent than previously expected, because this region has not been analyzed so far. This could explain the low percentage of mutations found in large LQTS cohorts.\n          <\/jats:p>","DOI":"10.1161\/01.res.84.3.290","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:47:05Z","timestamp":1339462025000},"page":"290-297","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":84,"title":["Genomic Organization of the\n            <i>KCNQ1<\/i>\n            K\n            <sup>+<\/sup>\n            Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome"],"prefix":"10.1161","volume":"84","author":[{"given":"Nathalie","family":"Neyroud","sequence":"first","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Vignier","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Donger","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Denjoy","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Demay","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Shkolnikova","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Pesce","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chevalier","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Hainque","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Coumel","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketty","family":"Schwartz","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Guicheney","sequence":"additional","affiliation":[{"name":"From INSERM U153, Institut de Myologie (N.N., N.V., C.D., B.H., K.S., P.G.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Biochimie B (P.R., L.D., B.H.), Ho\u0302pital Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France; Service de Cardiologie (N.N., I.D., P.C.), Ho\u0302pital Lariboisie\u0300re, Paris, France; Institute of Pediatry and Children Surgery (M.S.), Moscow, Russia; Falvaloro Foundation (R.P.), Buenos Aires, Argentina; and Service de Cardiologie (P.C.), Ho\u0302pital Louis Pradel, Lyon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.27.16713"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80255-X"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/384078a0"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/384080a0"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-17"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-186"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-181"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.483"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.90.6.7994803"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(75)90089-7"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705293362204"},{"key":"e_1_3_2_12_2","first-page":"656","volume":"45","year":"1963","unstructured":"Romano C, Gemme G, Pongiglione R. Aritmie cardiache rare dell\u2019eta pediatria. Clin Pediatr. 1963;45:656\u2013683.","journal-title":"Clin Pediatr"},{"key":"e_1_3_2_13_2","first-page":"103","volume":"54","year":"1964","unstructured":"Ward OC. A new familial cardiac syndrome in children. J Ir Med Assoc. 1964;54:103\u2013106.","journal-title":"J Ir Med Assoc"},{"key":"e_1_3_2_14_2","first-page":"59","volume":"54","year":"1956","unstructured":"Jervell A, Lange-Nielsen F. Congenital deaf mutism, functional heart disease with prolongation of the QT interval and sudden death. 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