{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T04:59:39Z","timestamp":1790053179830,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,6]],"date-time":"2015-09-06T00:00:00Z","timestamp":1441497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["n\u00b0602531"],"award-info":[{"award-number":["n\u00b0602531"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Forkhead Box\u00a0G1 (<jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic>) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic> syndrome have often been mentioned but not characterized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic> gene and describe the peculiar pattern of the associated movement disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The age of the patients in the study ranged from 2 to 17\u00a0years old (six females, two males). They had severe epilepsy and exhibited a complex motor disorder including various combinations of dyskinetic and hyperkinetic movements featuring dystonia, chorea, and athetosis. The onset of the movement disorder was apparent within the first year of life, reached its maximum expression within months, and then remained stable.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>A hyperkinetic\u2013dyskinetic movement disorder emerges as a distinctive feature of the <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic>\u2010related phenotype. <jats:italic><jats:styled-content style=\"fixed-case\">FOXG<\/jats:styled-content>1<\/jats:italic> syndrome is as an epileptic\u2013dyskinetic encephalopathy whose clinical presentation bears similarities with <jats:italic><jats:styled-content style=\"fixed-case\">ARX<\/jats:styled-content><\/jats:italic>\u2010 and <jats:italic><jats:styled-content style=\"fixed-case\">STXBP<\/jats:styled-content>1<\/jats:italic>\u2010gene related encephalopathies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12894","type":"journal-article","created":{"date-parts":[[2015,9,7]],"date-time":"2015-09-07T05:15:25Z","timestamp":1441602925000},"page":"93-97","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["The hyperkinetic movement disorder of <i><scp>FOXG<\/scp>1<\/i>\u2010related epileptic\u2013dyskinetic encephalopathy"],"prefix":"10.1111","volume":"58","author":[{"given":"Elena","family":"Cellini","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit Children's Hospital A Meyer \u2013University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[{"name":"Department of Health Sciences Epilepsy Center San Paolo Hospital University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Pisano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Children's Hospital A Meyer \u2013University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Falchi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Children's Hospital A Meyer \u2013University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Molinaro","sequence":"additional","affiliation":[{"name":"School in Reproductive and Developmental Science University of Trieste and University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Spedali Civili Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Bontacchio","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Spedali Civili Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit Spedali Civili Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Spedali Civili Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Children's Hospital A Meyer \u2013University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FOXG1 Syndrome Study 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