{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T16:39:18Z","timestamp":1726850358425},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T00:00:00Z","timestamp":1598572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>D\u20102\u2010hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy\/early childhood with seizures and significant central nervous system involvement. We report two siblings with D2HGA1 presenting with mild intellectual disability, and the onset of seizures in adulthood. One of them was misdiagnosed as tuberous sclerosis due to her presentation and the presence of subependymal nodules on brain imaging. Both further developed early onset dementia. This report expands the phenotype of D2HGA1 to include late\u2010onset seizures and early onset dementia in adults.<\/jats:p>","DOI":"10.1002\/acn3.51162","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T21:13:40Z","timestamp":1598649220000},"page":"2052-2056","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults"],"prefix":"10.1002","volume":"7","author":[{"given":"Sepideh","family":"Tabarestani","sequence":"first","affiliation":[{"name":"Epilepsy Genetics Program Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Varriano","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research in Neurodegenerative Diseases University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sapna","family":"Rawal","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"France Morel","sequence":"additional","affiliation":[{"name":"Department of Medicine Fred A. Litwin Centre in Genetic Medicine University Health Network &amp; Mount Sinai Hospital University of Toronto Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Carmela Tartaglia","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research in Neurodegenerative Diseases University of Toronto Toronto Ontario Canada"},{"name":"Division of Neurology Department of Medicine Toronto Western Hospital Krembil Neuroscience Centre University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle M.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Toronto Western Hospital University of Toronto Toronto Ontario Canada"},{"name":"Division of Neurology Department of Medicine Toronto Western Hospital Krembil Neuroscience Centre University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9462-5"},{"issue":"1","key":"e_1_2_8_3_1","first-page":"1","article-title":"The Toronto Cognitive Assessment (TorCA): Normative data and validation to detect amnestic mild cognitive impairment","volume":"10","author":"Freedman M","year":"2018","journal-title":"Alzheimer\u2019s Res Ther"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199901)45:1<111::AID-ART17>3.0.CO;2-N"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20559"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2002.00848.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.e32"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2019180081"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2262-17.2018"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-181089"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.51162","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T17:50:26Z","timestamp":1693849826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,28]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/acn3.51162"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51162","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,28]]},"assertion":[{"value":"2020-04-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}