{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:14:54Z","timestamp":1790630094035,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T00:00:00Z","timestamp":1293494400000},"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":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of <jats:italic>UBE3A<\/jats:italic>. Although the \u201cclassic\u201d features of AS are well described, few large\u2010scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy\u2010four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had <jats:italic>UBE3A<\/jats:italic> mutations. Participants with UPD\/imprinting defects were heavier (<jats:italic>P<\/jats:italic>\u2009=\u20090.0002), while those with deletions were lighter, than the general population (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). Twenty out of 92 participants were underweight, all of whom had deletions or <jats:italic>UBE3A<\/jats:italic> mutations. Eight out of 92 participants (6\/13 (46%) with UPD\/imprinting defects and 2\/11 (18%) with <jats:italic>UBE3A<\/jats:italic> mutations) were obese. Seventy\u2010four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad\u2010based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD\/imprinting defects. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33775","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T21:31:48Z","timestamp":1293571908000},"page":"81-90","source":"Crossref","is-referenced-by-count":121,"title":["Angelman syndrome: Mutations influence features in early childhood"],"prefix":"10.1002","volume":"155","author":[{"given":"Wen\u2010Hann","family":"Tan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven 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