{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:16:40Z","timestamp":1792790200531,"version":"4.5.0"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T00:00:00Z","timestamp":1493251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP #97800"],"award-info":[{"award-number":["MOP #97800"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP #111238"],"award-info":[{"award-number":["MOP #111238"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001804","name":"Canada Research Chairs","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007775","name":"Universidade Cat\u00f3lica de Bras\u00edlia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007775","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2\n                      <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>\n                      ) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2\n                      <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>\n                      population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The medical records of 202 adult patients with 22q11.2\n                      <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>\n                      were retrospectively reviewed for documentation of seizures, electroencephalography (\n                      <jats:styled-content style=\"fixed-case\">EEG)<\/jats:styled-content>\n                      reports, and\n                      <jats:styled-content style=\"fixed-case\">magnetic resonance imaging (MRI)<\/jats:styled-content>\n                      findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and\/or antipsychotic or antidepressant use. Nine patients (9\/32, 28%; 9\/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2\n                      <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>\n                      is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2\n                      <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>\n                      is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.13748","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T15:27:17Z","timestamp":1493306837000},"page":"1095-1101","source":"Crossref","is-referenced-by-count":41,"title":["22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy"],"prefix":"10.1111","volume":"58","author":[{"given":"Robert G.","family":"Wither","sequence":"first","affiliation":[{"name":"Division of Neurology Department of Medicine Toronto Western Hospital Krembil Neuroscience Centre University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felippe","family":"Borlot","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Medicine Toronto Western Hospital Krembil Neuroscience Centre University of Toronto Toronto Ontario Canada"},{"name":"Department of Neurology Clinical Neurosciences Center University of Utah Salt Lake City Utah U.S.A."},{"name":"Krembil Neurosciences Epilepsy Genetics Program Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy J.","family":"Butcher","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health Toronto Ontario Canada"},{"name":"Institute of Medical Science University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva W. 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