{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:51:09Z","timestamp":1747198269958,"version":"3.40.5"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007870","name":"Deutsche Gesellschaft f\u00fcr Epileptologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007870","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Knowledge of underlying genetic causes of developmental and epileptic encephalopathies (DEE) in adults is still limited when compared to the routine diagnostic approach in similarly affected children.<\/jats:p>\n               <jats:p>A well-documented longitudinal study of adults with DEE is of utmost importance to understand the natural history of the respective entity. This information is of great value especially for genetic counselling of newly diagnosed children with identical genetic diagnoses and may impact treatment and management of affected individuals.<\/jats:p>\n               <jats:p>In our meta-analysis we provide an overview of the most recurrent genetic findings across an adult DEE cohort (<jats:inline-formula id=\"j_medgen-2022-2144_ineq_001\">\n                     <jats:alternatives>\n                        <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/j_medgen-2022-2144_ineq_001.png\"\/>\n                        <m:math xmlns:m=\"http:\/\/www.w3.org\/1998\/Math\/MathML\">\n                           <m:mi mathvariant=\"italic\">n<\/m:mi>\n                           <m:mo>=<\/m:mo>\n                           <m:mn>1<\/m:mn>\n                           <m:mo mathvariant=\"normal\">,<\/m:mo>\n                           <m:mn>020<\/m:mn>\n                        <\/m:math>\n                        <jats:tex-math>n=1,020<\/jats:tex-math>\n                     <\/jats:alternatives>\n                  <\/jats:inline-formula>). The gene mostly associated with a pathogenic or likely pathogenic variant in adult DEE is <jats:italic>SCN1A<\/jats:italic>, followed by <jats:italic>MECP2<\/jats:italic> and <jats:italic>CHD2<\/jats:italic>. Studies employing exome sequencing and calling of both single nucleotide variants and copy number variants are associated with diagnostic yields of almost 50\u2009%.<\/jats:p>\n               <jats:p>Finally, we highlight three remarkable cases, each representing the oldest individual ever published with their genetic diagnosis, i.\u2009e., Angelman syndrome, Miller\u2013Dieker syndrome, and <jats:italic>CAMK2A<\/jats:italic>-related disorder, and describe lessons learned from each of these adults.<\/jats:p>","DOI":"10.1515\/medgen-2022-2144","type":"journal-article","created":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T11:51:27Z","timestamp":1663761087000},"page":"207-213","source":"Crossref","is-referenced-by-count":1,"title":["Genetic testing in adults with developmental and epileptic encephalopathy \u2013 what do we know?"],"prefix":"10.1515","volume":"34","author":[{"given":"Ilona","family":"Krey","sequence":"first","affiliation":[{"name":"Institute of Human Genetics , University of Leipzig Medical Center , Philipp-Rosenthal-Stra\u00dfe 55 , Leipzig , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-3109","authenticated-orcid":false,"given":"Kathrine M.","family":"Johannesen","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine , The Danish Epilepsy Centre , Dianalund , Denmark"},{"name":"Department of Regional Health Research , University of Southern Denmark , Odense , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oona","family":"Kohnen","sequence":"additional","affiliation":[{"name":"Swiss Epilepsy Center , Klinik Lengg , Zurich , Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes R.","family":"Lemke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , University of Leipzig Medical Center , Philipp-Rosenthal-Stra\u00dfe 55 , Leipzig , Germany"},{"name":"Center for Rare Diseases , University of Leipzig Medical Center , Leipzig , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"2024071107481355290_j_medgen-2022-2144_ref_001","doi-asserted-by":"crossref","unstructured":"Epi4K Consortium, Epilepsy Phenome\/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, et al. 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