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All have normal gait and use syntactic language spontaneously to express their needs. All of them have a c.2T\u2009&gt;\u2009C (p.Met1Thr) variant in <jats:italic>UBE3A<\/jats:italic>, which abrogates the start codon of isoform 1, but not of isoforms 2 and 3. This variant was maternally inherited in one set of siblings, but <jats:italic>de novo<\/jats:italic> in the other child from the unrelated family. This report underscores the importance of considering AS in the differential diagnosis even in the presence of syntactic speech.<\/jats:p>","DOI":"10.1002\/ajmg.a.38831","type":"journal-article","created":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T06:30:06Z","timestamp":1525761006000},"page":"1641-1647","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed <i>UBE3A<\/i> isoform"],"prefix":"10.1002","volume":"176","author":[{"given":"Anjali","family":"Sadhwani","sequence":"first","affiliation":[{"name":"Department of Psychiatry Boston Children's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neville E.","family":"Sanjana","sequence":"additional","affiliation":[{"name":"Department of Biology New York University New York New York; and New York Genome Center, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer M.","family":"Willen","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts"},{"name":"Clinical Trials Unit, Department of Psychiatry Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen N.","family":"Calculator","sequence":"additional","affiliation":[{"name":"Department of Communication Sciences and Disorders University of New Hampshire Durham New Hampshire"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily D.","family":"Black","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lora J. 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