{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:54:28Z","timestamp":1769835268043,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,9,29]],"date-time":"2014-09-29T00:00:00Z","timestamp":1411948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Lennox\u2010Gastaut syndrome (<jats:styled-content style=\"fixed-case\">LGS<\/jats:styled-content>) is a drug\u2010resistant epileptic encephalopathy of childhood with a heterogeneous etiology. Recently, genome\u2010wide association studies have led to the identification of new de novo mutations associated with this epileptic syndrome. Herein, we report an 8\u2010year\u2010old child with intellectual disability, severe postnatal microcephaly, Rett\u2010like features, and <jats:styled-content style=\"fixed-case\">LGS<\/jats:styled-content>, carrying a de novo missense mutation in the forkhead box G1 (<jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic>) gene. This gene is responsible for <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic> syndrome, characterized by severe postnatal microcephaly, moderate postnatal growth deficiency, mental retardation with poor social interaction, stereotyped behavior and dyskinesias, absent language, sleep disorders, and epilepsy. Nonspecific epilepsy syndromes have been associated with this genetic disorder. Thus, we hypothesize that <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic> might be a new candidate gene in the etiology of <jats:styled-content style=\"fixed-case\">LGS<\/jats:styled-content> and suggest screening for this gene in cases of <jats:styled-content style=\"fixed-case\">LGS<\/jats:styled-content> with concomitant microcephaly and clinical features overlapping with Rett syndrome.<\/jats:p>","DOI":"10.1111\/epi.12800","type":"journal-article","created":{"date-parts":[[2014,9,29]],"date-time":"2014-09-29T22:15:19Z","timestamp":1412028919000},"source":"Crossref","is-referenced-by-count":11,"title":["A case of <scp>L<\/scp>ennox\u2010<scp>G<\/scp>astaut syndrome in a patient with <scp>FOXG<\/scp>1\u2010related disorder"],"prefix":"10.1111","volume":"55","author":[{"given":"Gaetano","family":"Terrone","sequence":"first","affiliation":[{"name":"AP\u2010HP Pediatric Neurology Department Hospital Robert Debr\u00e9 Paris France"},{"name":"Inserm U1141 Paris France"},{"name":"Department of Translational Medicine Section of Pediatrics Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"AP\u2010HP Biochemistry and Molecular Genetics Department Hospital Cochin Paris France"},{"name":"Institut Cochin Labex Who I Am Inserm U1016 Universit\u00e9 Paris Descartes Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Germanaud","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Neurology Department Hospital Robert Debr\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Anne","family":"Barthez\u2010Carpentier","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department H\u00f4pital Clocheville Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Diebold","sequence":"additional","affiliation":[{"name":"AP\u2010HP Biochemistry and Molecular Genetics Department Hospital Cochin Paris France"},{"name":"Institut Cochin Labex Who I Am Inserm U1016 Universit\u00e9 Paris Descartes Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Delanoe","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Neurology Department Hospital Robert Debr\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Passemard","sequence":"additional","affiliation":[{"name":"Inserm U1141 Paris France"},{"name":"AP\u2010HP Department of Medical Genetics Hospital Robert Debr\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Neurology Department Hospital Robert Debr\u00e9 Paris France"},{"name":"Inserm U1141 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70292-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01072.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"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":"10.1007\/s10048-010-0255-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.01.009"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004691-200311000-00005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90262-7"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2007.06.012"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000327329","article-title":"FOXG1\u2010related disorders: from clinical description to molecular genetics","volume":"2","author":"Florian C","year":"2011","journal-title":"Mol Syndromol"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.02.023"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.142"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182194bbf"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12800","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T16:07:55Z","timestamp":1696349275000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,29]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/epi.12800"],"URL":"https:\/\/doi.org\/10.1111\/epi.12800","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,29]]}}}