{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T22:38:30Z","timestamp":1740177510982,"version":"3.37.3"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T00:00:00Z","timestamp":1503446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Malformations of cortical development are associated with epilepsy and cognitive dysfunction, and can occur in patients with <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> ion channel mutations. We report a novel and subtle bandlike subcortical heterotopia on integrated positron emission tomography\u2013magnetic resonance imaging (<jats:styled-content style=\"fixed-case\"> PET\u2010MRI<\/jats:styled-content>) in a patient with treatment\u2010resistant epilepsy due to a de novo <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>1<\/jats:italic> frameshift mutation. Our case highlights the potential for other channel mutations to cause both epilepsy and cortical malformations. Further scrutiny of high contrast resolution <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> studies is warranted for patients with <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>1<\/jats:italic> and other epilepsy genes to further define their extended phenotype.<\/jats:p>","DOI":"10.1002\/epi4.12072","type":"journal-article","created":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T08:06:42Z","timestamp":1500883602000},"page":"481-484","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel bandlike signal abnormality suggestive of heterotopia in patient with a <i><scp>KCNQ<\/scp>1<\/i> frameshift mutation"],"prefix":"10.1002","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2099-1994","authenticated-orcid":false,"given":"Priyanka","family":"Sabharwal","sequence":"first","affiliation":[{"name":"Department of Neurology NYU Langone Medical Center New York New York U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orrin","family":"Devinsky","sequence":"additional","affiliation":[{"name":"Department of Neurology NYU Langone Medical Center New York New York U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"M. Shepherd","sequence":"additional","affiliation":[{"name":"Department of Radiology NYU Langone Medical Center New York New York U.S.A"},{"name":"Center for Advanced Imaging Innovation and Research New York New York U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.182.2.1732969"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360409"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70040-7"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000289"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12658"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fepi4.12072","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12072","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T12:30:13Z","timestamp":1695472213000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,23]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/epi4.12072"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12072","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"type":"print","value":"2470-9239"},{"type":"electronic","value":"2470-9239"}],"subject":[],"published":{"date-parts":[[2017,8,23]]},"assertion":[{"value":"2017-07-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}