{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:30:05Z","timestamp":1762507805200},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital abnormalities, and gastrointestinal disorders. Patients with ATR-X syndrome can suffer from different types of epileptic seizures, but a severe epileptic encephalopathy pattern has not been described to date. We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus\u2013dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders.<\/jats:p>","DOI":"10.1055\/s-0039-1692141","type":"journal-article","created":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T22:40:13Z","timestamp":1563489613000},"page":"327-331","source":"Crossref","is-referenced-by-count":9,"title":["Epileptic Encephalopathy, Myoclonus\u2013Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene"],"prefix":"10.1055","volume":"50","author":[{"given":"Thea","family":"Giacomini","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Stella","family":"Vari","sequence":"additional","affiliation":[{"name":"Unit of Neurology and Neuromuscolar Diseases, Department of Clinical and Surgical Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Janis","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Prato","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Rocchi","sequence":"additional","affiliation":[{"name":"Unit of First Aid, Newborn and Children Area, Department of Woman, Child and Newborn, IRCCS Ca' Granda Maggiore Policlinico Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetic Unit, Azienda Ospedaliero Universitaria Pisana, S. Chiara Hospital, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases, Department of Pediatrics, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Gandullia","sequence":"additional","affiliation":[{"name":"Unit of Gastroenterology, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Girolamo","family":"Mattioli","sequence":"additional","affiliation":[{"name":"Unit of Surgery, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliviero","family":"Sacco","sequence":"additional","affiliation":[{"name":"Unit of Pneumology, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Morana","sequence":"additional","affiliation":[{"name":"Unit of Neuroradiology, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2019,7,18]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1692141.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T22:31:29Z","timestamp":1568154689000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1692141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,18]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2019,9,10]]},"published-print":{"date-parts":[[2019,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1692141","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,18]]}}}