{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T17:16:15Z","timestamp":1789146975636,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Smith\u2010Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have <jats:italic>RAI1<\/jats:italic> gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36742","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T20:29:27Z","timestamp":1411590567000},"page":"3142-3147","source":"Crossref","is-referenced-by-count":17,"title":["Periventricular nodular heterotopia in Smith\u2010Magenis syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Valeria","family":"Capra","sequence":"first","affiliation":[{"name":"Neurosurgery Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Biancheri","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Morana","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health University of Genoa Istituto Giannina Gaslini 16147 Genov Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Novara","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni Battista","family":"Ferrero","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Torino, Regina Margherita Children Hospital Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Boeri","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elena","family":"Celle","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Istituto Giannina Gaslini 16147 Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"},{"name":"Neurological Clinic IRCCS C. 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