{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:12:52Z","timestamp":1791112372075,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T00:00:00Z","timestamp":1402358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Patients with tuberous sclerosis complex (<jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>1<\/jats:italic> and <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2 genotype with patient and disease characteristics in a retrospective review of a large <jats:styled-content style=\"fixed-case\">TSC N<\/jats:styled-content>atural <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>istory <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>atabase consisting of 919 patients with <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Univariate logistic regression was conducted to evaluate the association of the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>1<\/jats:italic> and <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2 gene mutations with patient and disease characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>As compared to patients with the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>1<\/jats:italic> mutation, patients with the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> mutation were younger (p\u00a0=\u00a00.02), more likely to have partial epilepsy (odds ratio (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>) 1.74, p\u00a0=\u00a00.0015), complex partial seizures (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> 2.03, p\u00a0=\u00a00.02), infantile spasms (<jats:styled-content style=\"fixed-case\">IS<\/jats:styled-content>) (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> 1.67, p\u00a0=\u00a00.01), subependymal giant\u2010cell astrocytomas (<jats:styled-content style=\"fixed-case\">SEGAs<\/jats:styled-content>) (<jats:styled-content style=\"fixed-case\">OR <\/jats:styled-content>1.64, p\u00a0=\u00a00.01), and intellectual disability (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> 2.90, p\u00a0=\u00a00.0002).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>The clinical presentation of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> is highly variable and not well understood. Our findings confirm and supplement existing literature that <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> mutation is likely to be associated with a more severe, earlier presenting <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> phenotype, including infantile spasms.<\/jats:p><jats:p>A PowerPoint slide summarizing this article is available for download in the Supporting Information section <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/dx.doi.org\/10.1111\/epi.12680\/supinfo\">here<\/jats:ext-link>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.12680","type":"journal-article","created":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T15:10:54Z","timestamp":1402413054000},"page":"1025-1029","source":"Crossref","is-referenced-by-count":92,"title":["Severity of manifestations in <scp>t<\/scp>uberous sclerosis <scp>c<\/scp>omplex in relation to genotype"],"prefix":"10.1111","volume":"55","author":[{"given":"Sanjeev V.","family":"Kothare","sequence":"first","affiliation":[{"name":"Department of Neurology Comprehensive Epilepsy Center New York University Langone Medical Center New York New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanwaljit","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Neurology) University of Massachusetts Medical School Worcester Massachusetts U.S.A"},{"name":"Department of Neurology Comprehensive Epilepsy Center New York University Langone Medical Center New York New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason R.","family":"Chalifoux","sequence":"additional","affiliation":[{"name":"Department of Neurology Comprehensive Epilepsy Center New York University Langone Medical Center New York New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigid 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