{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T14:39:19Z","timestamp":1778855959527,"version":"3.51.4"},"reference-count":22,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:00:00Z","timestamp":1628208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Prader\u2013Willi syndrome (PWS) is a rare disease determined by the loss of the paternal copy of the 15q11-q13 region, and it is characterized by hypotonia, hyperphagia, obesity, short stature, hypogonadism, craniofacial dysmorphisms, and cognitive and behavioral disturbances. The aims of this retrospective study were to analyze interictal EEG findings in a group of PWS patients and to correlate them with genetic, clinical, and neuroimaging data. The demographic, clinical, genetic, EEG, and neuroimaging data of seventy-four patients were collected. Associations among the presence of paroxysmal EEG abnormalities, genotype, and clinical and neuroimaging features were investigated. Four patients (5.4%) presented drug-sensitive epilepsy. Interictal paroxysmal EEG abnormalities\u2014focal or multifocal\u2014were present in 25.7% of the cases, and the normalization of the EEG occurred in about 25% of the cases. In 63.2% of the cases, the paroxysmal abnormalities were bilaterally localized over the middle\u2013posterior regions. Brain magnetic resonance imaging (MRI) was performed on 39 patients (abnormal in 59%). No relevant associations were found between paroxysmal EEG abnormalities and all of the other variables considered. Interictal paroxysmal EEG abnormalities\u2014in particular, with a bilateral middle\u2013posterior localization\u2014could represent an important neurological feature of PWS that is not associated with genotype, cognitive or behavioral endophenotypes, MRI anomalies, or prognosis.<\/jats:p>","DOI":"10.3390\/brainsci11081045","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T08:01:42Z","timestamp":1628236902000},"page":"1045","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["EEG Patterns in Patients with Prader\u2013Willi Syndrome"],"prefix":"10.3390","volume":"11","author":[{"given":"Maurizio","family":"Elia","sequence":"first","affiliation":[{"name":"Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3217-5393","authenticated-orcid":false,"given":"Irene","family":"Rutigliano","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Sacco","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona F.","family":"Madeo","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio, 41124 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8299-2677","authenticated-orcid":false,"given":"Malgorzata","family":"Wasniewska","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of the Adult and of the Developmental Age \u201cGaetano Barresi\u201d, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Li Pomi","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of the Adult and of the Developmental Age \u201cGaetano Barresi\u201d, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliana","family":"Trifir\u00f2","sequence":"additional","affiliation":[{"name":"Cardiogenetic and Vascular Center, IRCCS Policlinico San Donato Milanese, 20097 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Di Bella","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Psychiatry, \u201cG. Martino\u201d Hospital, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"De Lucia","sequence":"additional","affiliation":[{"name":"I-Motion-Pediatric Clinical Trials Department, Trousseau Hospital, 75012 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0121-3396","authenticated-orcid":false,"given":"Luigi","family":"Vetri","sequence":"additional","affiliation":[{"name":"Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0370-7872","authenticated-orcid":false,"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio, 41124 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1528-0012","authenticated-orcid":false,"given":"Maurizio","family":"Delvecchio","sequence":"additional","affiliation":[{"name":"Metabolic Diseases and Genetics Unit, Giovanni XXIII Children\u2019s Hospital, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","article-title":"Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings","volume":"38","author":"Angulo","year":"2015","journal-title":"J. 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