{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:18:55Z","timestamp":1762899535247},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an \u201cON-OFF\u201d behavior.<\/jats:p>","DOI":"10.1055\/s-0038-1639372","type":"journal-article","created":{"date-parts":[[2018,4,9]],"date-time":"2018-04-09T18:48:45Z","timestamp":1523299725000},"page":"217-221","source":"Crossref","is-referenced-by-count":8,"title":["Epileptic Encephalopathy in Adams\u2013Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype"],"prefix":"10.1055","volume":"49","author":[{"given":"Livia","family":"Pisciotta","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genoa, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Capra","sequence":"first","affiliation":[{"name":"Genetic Unit, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Accogli","sequence":"first","affiliation":[{"name":"Genetic Unit, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thea","family":"Giacomini","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genoa, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Prato","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genoa, Genoa, Italy"},{"name":"Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purifica\u00e7\u00e3o","family":"Tavares","sequence":"first","affiliation":[{"name":"CGC Genetics, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Pinto-Basto","sequence":"first","affiliation":[{"name":"CGC Genetics, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Morana","sequence":"first","affiliation":[{"name":"Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,4,9]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1639372.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,10]],"date-time":"2018-05-10T18:31:28Z","timestamp":1525977088000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1639372"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,9]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2018,5,10]]},"published-print":{"date-parts":[[2018,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1639372","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,9]]}}}