{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T04:45:15Z","timestamp":1790052315668,"version":"4.0.1"},"reference-count":14,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Neurohospitalist"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>22q11.2 microdeletion is the most common microdeletion syndrome in humans with a prevalence of 13 per 100\u00a0000 live births, and it is a multisystem condition with variable phenotypic presentations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We present a case of an adult patient with Dandy-Walker syndrome who presented to our epilepsy clinic with 2 years of new-onset seizures and cognitive decline and 1 year of psychotic symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Patient had a non-revealing autoimmune and malignancy work-up. Continuous scalp vEEG study showed bursts of 1-2\u00a0Hz generalized fronto-centrally predominant spike or polyspike and slow wave discharges. Several myoclonic jerks were time-locked with the generalized discharges indicative of cortical myoclonus. MRI brain revealed periventricular nodular heterotopia in addition to findings suggestive of Dandy-Walker syndrome. Array-based comparative genomic hybridization demonstrated a 22q11.2 microdeletion seen in 22q11.2 deletion syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient\u2019s age, the severity of the phenotypic features, and the awareness of the physician.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/19418744241228618","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T13:16:46Z","timestamp":1705497406000},"page":"273-277","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome"],"prefix":"10.1177","volume":"14","author":[{"given":"Mike W.","family":"Zhang","sequence":"first","affiliation":[{"name":"The University of Alabama at Birmingham"},{"name":"Heersink School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2753-821X","authenticated-orcid":false,"given":"Stephanie T.","family":"Bustros","sequence":"additional","affiliation":[{"name":"University of Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler E.","family":"Gaston","sequence":"additional","affiliation":[{"name":"The University of Alabama at Birmingham"},{"name":"Heersink School of Medicine"},{"name":"Birmingham Veterans Affairs Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Descartes","sequence":"additional","affiliation":[{"name":"Baptist Health South Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2461-0255","authenticated-orcid":false,"given":"Shruti P.","family":"Agnihotri","sequence":"additional","affiliation":[{"name":"The University of Alabama at Birmingham"},{"name":"Heersink School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,1,17]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14722"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.175"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38614"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1161-3"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-1206"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.08.011"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2017.02.001"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00787-013-0469-8"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.02.008"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1279"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14826"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17332"}],"container-title":["The Neurohospitalist"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19418744241228618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/19418744241228618","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19418744241228618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T05:47:12Z","timestamp":1785563232000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/19418744241228618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,17]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1177\/19418744241228618"],"URL":"https:\/\/doi.org\/10.1177\/19418744241228618","relation":{},"ISSN":["1941-8744","1941-8752"],"issn-type":[{"value":"1941-8744","type":"print"},{"value":"1941-8752","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,17]]}}}