{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T05:38:43Z","timestamp":1790141923551,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,7,3]],"date-time":"2015-07-03T00:00:00Z","timestamp":1435881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">KCNT<\/jats:styled-content>1<\/jats:italic> mutations have been found in epilepsy of infancy with migrating focal seizures (<jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content>; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (<jats:styled-content style=\"fixed-case\">EOEE<\/jats:styled-content>s). We performed <jats:italic><jats:styled-content style=\"fixed-case\">KCNT<\/jats:styled-content>1<\/jats:italic>\u2010targeted next\u2010generation sequencing (207 samples) and\/or whole\u2010exome sequencing (229 samples) in a total of 362 patients with Ohtahara syndrome, West syndrome, <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content>, or unclassified <jats:styled-content style=\"fixed-case\">EOEE<\/jats:styled-content>s. We identified nine heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">KCNT<\/jats:styled-content>1<\/jats:italic> mutations in 11 patients: nine of 18 <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content> cases (50%) in whom migrating foci were observed, one of 180 West syndrome cases (0.56%), and one of 66 unclassified <jats:styled-content style=\"fixed-case\">EOEE<\/jats:styled-content> cases (1.52%). <jats:italic><jats:styled-content style=\"fixed-case\">KCNT<\/jats:styled-content>1<\/jats:italic> mutations occurred de novo in 10 patients, and one was transmitted from the patient's mother who carried a somatic mosaic mutation. The mutations accumulated in transmembrane segment 5 (2\/9, 22.2%) and regulators of K<jats:sup>+<\/jats:sup> conductance domains (7\/9, 77.8%). Five of nine mutations were recurrent. Onset ages ranged from the neonatal period (&lt;1\u00a0month) in five patients (5\/11, 45.5%) to 1\u20134\u00a0months in six patients (6\/11, 54.5%). A generalized attenuation of background activity on electroencephalography was seen in six patients (6\/11, 54.5%). Our study demonstrates that the phenotypic spectrum of de novo <jats:italic><jats:styled-content style=\"fixed-case\">KCNT<\/jats:styled-content>1<\/jats:italic> mutations is largely restricted to <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/epi.13072","type":"journal-article","created":{"date-parts":[[2015,7,3]],"date-time":"2015-07-03T18:24:18Z","timestamp":1435947858000},"source":"Crossref","is-referenced-by-count":124,"title":["De novo <i><scp>KCNT<\/scp>1<\/i> mutations in early\u2010onset epileptic encephalopathy"],"prefix":"10.1111","volume":"56","author":[{"given":"Chihiro","family":"Ohba","sequence":"first","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan"},{"name":"Department of Clinical Neurology and Stroke Medicine Yokohama City University Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuya","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[{"name":"Division of Neurology Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan"},{"name":"Department of Pediatrics Jichi Medical School Shimotsuke Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Shiihara","sequence":"additional","affiliation":[{"name":"Department of Neurology Gunma Children's Medical Center Shibukawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Epilepsy Center Nishi\u2010Niigata Chuo National Hospital Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Nabatame","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junji","family":"Azuma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Hospital Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munetsugu","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Neonatology Medical Center for Maternal and Child Health St. Mary's Hospital Kurume Japan"},{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reimi","family":"Tsurusawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuoka University Chikushi Hospital Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahito","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuoka University Chikushi Hospital Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reina","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Fukuoka Children's Hospital Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoriko","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Togashi","sequence":"additional","affiliation":[{"name":"Department of Neurology Miyagi Children's Hospital Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Kodera","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama 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