{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:13:19Z","timestamp":1791349999041,"version":"4.3.1"},"reference-count":17,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.gene.2013.08.096","type":"journal-article","created":{"date-parts":[[2013,9,10]],"date-time":"2013-09-10T06:01:27Z","timestamp":1378792887000},"page":"467-471","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":93,"title":["A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy"],"prefix":"10.1016","volume":"531","author":[{"given":"Atsushi","family":"Ishii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mutsuki","family":"Shioda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihisa","family":"Okumura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kidokoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masako","family":"Sakauchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shino","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Osawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Hirose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.08.096_bb0025","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/ng.2441","article-title":"De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy","volume":"44","author":"Barcia","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.08.096_bb0050","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/nar\/28.1.235","article-title":"The Protein Data Bank","volume":"28","author":"Berman","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2013.08.096_bb0055","doi-asserted-by":"crossref","first-page":"20207","DOI":"10.1073\/pnas.1112901108","article-title":"The steroid interaction site in transmembrane domain 2 of the large conductance, voltage- and calcium-gated potassium (BK) channel accessory \u03b21 subunit","volume":"b108","author":"Bukiya","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2013.08.096_bb0010","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1212\/WNL.0b013e318227046d","article-title":"De novo SCN1A mutations in migrating partial seizures of infancy","volume":"77","author":"Carranza Rojo","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2013.08.096_bb0045","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1073\/pnas.0711533105","article-title":"Structure of the transmembrane regions of a bacterial cyclic nucleotide-regulated channel","volume":"105","author":"Clayton","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"Suppl.","key":"10.1016\/j.gene.2013.08.096_bb0005","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1528-1167.2009.02121.x","article-title":"Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology","volume":"50","author":"Coppola","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2013.08.096_bb0015","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1001\/archneurol.2011.98","article-title":"Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy","volume":"68","author":"Freilich","year":"2011","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.gene.2013.08.096_bb0030","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1038\/ng.2440","article-title":"Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy","volume":"44","author":"Heron","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.08.096_bb0035","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1093\/brain\/awt073","article-title":"Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum","volume":"136","author":"McTague","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.gene.2013.08.096_bb0085","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.braindev.2012.03.016","article-title":"Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam","volume":"35","author":"Merdariu","year":"2013","journal-title":"Brain Dev."},{"key":"10.1016\/j.gene.2013.08.096_bb0065","doi-asserted-by":"crossref","first-page":"4386","DOI":"10.1073\/pnas.1216867110","article-title":"Genotype\u2013phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits","volume":"110","author":"Miceli","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2013.08.096_bb0040","unstructured":"Molecular Operating Environment (MOE), 2012.10; Chemical Computing Group Inc., 1010 Sherbooke St. West, Suite #910, Montreal, QC, Canada, H3A 2R7, 2012."},{"key":"10.1016\/j.gene.2013.08.096_bb0075","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0387-7604(99)00108-4","article-title":"Successful control with bromide of two patients ith malignant migrating partial seizures in infancy","volume":"22","author":"Okuda","year":"2000","journal-title":"Brain Dev."},{"key":"10.1016\/j.gene.2013.08.096_bb0080","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1111\/j.1528-1157.1999.tb02048.x","article-title":"Stiripentol: efficacy and tolerability in children with epilepsy","volume":"40","author":"Perez","year":"1999","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2013.08.096_bb0020","doi-asserted-by":"crossref","first-page":"e146","DOI":"10.1111\/j.1528-1167.2012.03538.x","article-title":"Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy","volume":"53","author":"Poduri","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2013.08.096_bb0060","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.bbrc.2012.02.062","article-title":"Amino acid residues of both the extracellular and transmembrane domains influence binding of the antiparasitic agent milbemycin to Haemonchus contortus AVR-14B glutamate-gated chloride channels","volume":"419","author":"Yamaguchi","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.08.096_bb0070","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10143-008-0134-8","article-title":"Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children","volume":"31","author":"Zamponi","year":"2008","journal-title":"Neurosurg. Rev."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913011712?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913011712?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T06:25:38Z","timestamp":1539411938000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913011712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0378111913011712"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.08.096","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.08.096","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}