{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T04:59:35Z","timestamp":1790053175483,"version":"4.0.1"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,16]],"date-time":"2014-05-16T00:00:00Z","timestamp":1400198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K08NS078054"],"award-info":[{"award-number":["K08NS078054"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p><jats:italic>FOXG1<\/jats:italic>\u2010related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Children with deletions or intragenic mutations of <jats:italic>FOXG1<\/jats:italic> also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. Duplications of 14q12 often present with infantile spasms, and have subsequent intellectual disability with autistic features. Long\u2010term epilepsy outcome and response to treatment have not been studied systematically in a well\u2010described cohort of subjects with <jats:italic>FOXG1<\/jats:italic>\u2010related disorders. We report on the epilepsy features and developmental outcome of 23 new subjects with deletions or intragenic mutations of <jats:italic>FOXG1<\/jats:italic>, and 7 subjects with duplications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Subjects had either chromosomal microarray or <jats:italic>FOXG1<\/jats:italic> gene sequencing performed as part of routine clinical care. Development and epilepsy follow\u2010up data were collected from medical records from treating neurologists and through telephone parental interviews using standardized questionnaires.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Epilepsy was diagnosed in 87% of the subjects with <jats:italic>FOXG1<\/jats:italic>\u2010related disorders. The mean age of epilepsy diagnosis in <jats:italic>FOXG1<\/jats:italic> duplications was significantly younger than those with deletions\/intragenic mutations (p\u00a0=\u00a00.0002). All of the duplication <jats:italic>FOXG1<\/jats:italic> children with infantile spasms responded to hormonal therapy, and only one required long\u2010term antiepileptic therapy. In contrast, more children with deletions\/intragenic mutations required antiepileptic drugs on follow\u2010up (p\u00a0&lt;\u00a00.0005). All subjects with <jats:italic>FOXG1<\/jats:italic>\u2010related disorders had neurodevelopmental disabilities after 3\u00a0years of age, regardless of the epilepsy type or intractability of seizures. All had impaired verbal language and social contact, and three duplication subjects were formally diagnosed with autism. Subjects with deletion\/intragenic mutations, however, had significantly worse ambulation (p\u00a0=\u00a00.04) and functional hand use (p\u00a0&lt;\u00a00.0005).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Epilepsy and developmental outcome characteristics allow clinicians to distinguish among the <jats:italic>FOXG1<\/jats:italic>\u2010related disorders. Further genotype\u2013phenotype studies of <jats:italic>FOXG1<\/jats:italic> may help to elucidate why children develop different forms of developmental epilepsy.<\/jats:p><jats:p>A PowerPoint slide summarizing this article is available for download in the Supporting Information section <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12648\/supinfo\">here<\/jats:ext-link><\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.12648","type":"journal-article","created":{"date-parts":[[2014,5,16]],"date-time":"2014-05-16T14:27:21Z","timestamp":1400250441000},"page":"1292-1300","source":"Crossref","is-referenced-by-count":70,"title":["Epilepsy and outcome in <i>FOXG1<\/i>\u2010related disorders"],"prefix":"10.1111","volume":"55","author":[{"given":"Laurie E.","family":"Seltzer","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy","family":"Ma","sequence":"additional","affiliation":[{"name":"University at Buffalo School of Medicine Buffalo New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohnee","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics Pediatric Epilepsy Center Washington University St. Louis Missouri U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Department of Neurology and Division of Genetic Medicine Department of Pediatrics University of Washington Center for Integrative Brain Research Seattle Research Institute Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Wheless","sequence":"additional","affiliation":[{"name":"LeBonheur Children's Hospital and the University of Tennessee Memphis Tennessee U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex R.","family":"Paciorkowski","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York U.S.A"},{"name":"Departments of Pediatrics and Biomedical Genetics Center for Neural Development &amp; Disease University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067884"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0220-2"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087528"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.004"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.142"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.121"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.06.008"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.208"},{"key":"e_1_2_7_11_1","article-title":"A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome","author":"Kumakura A","year":"2013","journal-title":"Brain Dev"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03656.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2463"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.443"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/neu.10287"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0417-07.2007"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1754"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182194bbf"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2008.09.006"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809341664"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2009.03.004"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.08.010"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2012.01.017"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.11.003"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2011.06.010"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34418"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0356-y"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12648","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:33:55Z","timestamp":1695490435000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,16]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/epi.12648"],"URL":"https:\/\/doi.org\/10.1111\/epi.12648","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,16]]}}}