{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T02:58:28Z","timestamp":1772765908101,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008914","name":"Ontario Brain Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008914","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to delineate the distribution of periventricular nodular heterotopia (<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>) in patients with 22q11.2 microdeletion syndrome (22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>) and place this in the context of other genetic forms of<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>. We included only those with good quality<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>data (<jats:italic>n<\/jats:italic>\u00a0=\u00a029) in addition to two patients with<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>identified through postmortem studies. We also reviewed the pattern of<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>in all genetic conditions reported with this phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the total seven patients (M\u00a0=\u00a04, F\u00a0=\u00a03; age: 19\u201361\u00a0years) identified to have<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>, six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obsessive compulsive disorder. In all seven patients, the nodules were located over the dorsal pole of the frontal horn of the lateral ventricles. The nodules were small, noncontiguous, and ranged in number from 1 to 10 per individual. Our review identified 37 genetic conditions associated with<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>. With the cases reported here, 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>becomes the fifth most commonly reported genetic condition, and the third most common copy number variation, associated with<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The neuropsychiatric manifestations in our patients with<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>support other data indicating abnormal neurodevelopment as part of the pathogenesis of 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>.The location and cellular characteristics of<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>in 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>overlaps with a group of migrating postnatal interneurons termed Arc cells, although more research is needed to confirm that<jats:styled-content style=\"fixed-case\">PNH<\/jats:styled-content>in 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>represents Arc cells arrested in their migratory pathway.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.641","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T06:59:31Z","timestamp":1537772371000},"page":"1314-1322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration"],"prefix":"10.1002","volume":"5","author":[{"given":"Arezoo","family":"Rezazadeh","sequence":"first","affiliation":[{"name":"Division of Neurology Department of Medicine Krembil Neuroscience Centre Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduard","family":"Bercovici","sequence":"additional","affiliation":[{"name":"Division 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