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We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in <jats:italic>MECP2<\/jats:italic>. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat <jats:italic>MECP2<\/jats:italic> gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in <jats:italic>STXBP1<\/jats:italic>. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in <jats:italic>MECP2<\/jats:italic>, <jats:italic>FOXG1<\/jats:italic>, <jats:italic>SCN8A<\/jats:italic>, and <jats:italic>IQSEC2<\/jats:italic>. <jats:italic>MECP2<\/jats:italic> mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative <jats:italic>MECP2<\/jats:italic> testing. While most of the identified mutations were apparently de novo, the <jats:italic>SCN8A<\/jats:italic> variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37132","type":"journal-article","created":{"date-parts":[[2015,4,25]],"date-time":"2015-04-25T08:22:51Z","timestamp":1429950171000},"page":"2017-2025","source":"Crossref","is-referenced-by-count":74,"title":["Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Heather E.","family":"Olson","sequence":"first","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Neurogenetics Program Boston Children's Hospital Boston Massachusetts"},{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimira","family":"Tambunan","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"LaCoursiere","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marti","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Pinsky","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Martin","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"},{"name":"Rett Syndrome Program Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Khwaja","sequence":"additional","affiliation":[{"name":"Neurogenetics Program Boston Children's Hospital Boston Massachusetts"},{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"},{"name":"Rett Syndrome Program Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter E.","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Neurogenetics Program Boston Children's Hospital Boston Massachusetts"},{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"},{"name":"Rett Syndrome Program Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Division of Epilepsy &amp; Clinical Neurophysiology Boston Children's Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Neurogenetics Program Boston Children's Hospital Boston Massachusetts"},{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts"},{"name":"F. 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