{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:51:48Z","timestamp":1791161508039,"version":"4.1.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:00:00Z","timestamp":1772755200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["682345"],"award-info":[{"award-number":["682345"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["ECO20160736027"],"award-info":[{"award-number":["ECO20160736027"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["FDT201904008269"],"award-info":[{"award-number":["FDT201904008269"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ERANET"},{"DOI":"10.13039\/100031366","name":"NEURON","doi-asserted-by":"publisher","award":["ANR-21-NEU2-0002-01"],"award-info":[{"award-number":["ANR-21-NEU2-0002-01"]}],"id":[{"id":"10.13039\/100031366","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100031366","name":"NEURON","doi-asserted-by":"publisher","award":["Horizon2020 Research and Innovation Program"],"award-info":[{"award-number":["Horizon2020 Research and Innovation Program"]}],"id":[{"id":"10.13039\/100031366","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ligue Fran\u00e7aise Contre l\u2019Epilepsie"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Focal cortical dysplasia type II (FCDII), a major cause of paediatric drug-resistant focal epilepsy, results from brain somatic variants in mTOR pathway genes, including germline and somatic second-hit loss-of-function variants in the mTOR repressor DEPDC5.<\/jats:p>\n                  <jats:p>Here, we present a proof-of-concept model of DEPDC5 two-hit inactivation mosaicism using patient-derived human cortical organoids (hCOs). Mosaic hCOs displayed increased mTOR activity that was rescued by the mTOR inhibitor rapamycin. Mosaic hCOs also exhibited dysmorphic-like neurons and enhanced neuronal excitability, recapitulating key FCDII pathology hallmarks. Single-cell transcriptomics across three developmental stages revealed aberrant differentiation trajectories leading to premature upper-layer neuron generation, upregulated Notch and Wnt signalling pathways in neural progenitors, and altered expression of synaptic- and epilepsy-associated genes in excitatory neurons. In addition, we identified cell-autonomous alterations in metabolism and translation in mosaic DEPDC5 two-hit hCOs.<\/jats:p>\n                  <jats:p>This study provides novel insights into how DEPDC5 deficiency perturbs human corticogenesis, highlighting that mosaic biallelic inactivation of the gene is necessary for FCDII pathogenesis.<\/jats:p>","DOI":"10.1093\/brain\/awag086","type":"journal-article","created":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T12:45:40Z","timestamp":1772714740000},"page":"3631-3646","source":"Crossref","is-referenced-by-count":4,"title":["Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through\n                    <i>DEPDC5<\/i>\n                    deletion"],"prefix":"10.1093","volume":"149","author":[{"given":"Marina","family":"Maletic","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bizzotto","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Team Somatic Mosaicism in Neurodevelopment and Disease , Paris 75015 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e9o","family":"Ribierre","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]},{"name":"Department of Basic Neurosciences, University of Geneva , Geneva 1205 ,","place":["Switzerland"]},{"name":"NeuroNA Human Cellular Neuroscience Platform, Fondation Campus Biotech Geneva , Geneva 1205 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenza","family":"Guerdoud","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corentin","family":"Raoux","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Doladilhe","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Dalle","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Picard","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University Hospitals and Medical School of Geneva , Geneva 1205 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6430-4693","authenticated-orcid":false,"given":"St\u00e9phanie","family":"Baulac","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute (ICM), Team MOSAIC \u201cGenetic Mosaicism in Epilepsy and Neurodevelopmental Disorders\u201d Inserm, CNRS, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,6]]},"reference":[{"key":"2026100419572715300_awag086-B1","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1056\/NEJMoa1703784","article-title":"Histopathological findings in brain tissue obtained during epilepsy surgery","volume":"377","author":"Blumcke","year":"2017","journal-title":"N Engl J 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development","volume":"55","author":"Chung","year":"2023","journal-title":"Nat Genet."},{"key":"2026100419572715300_awag086-B14","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1093\/brain\/awab376","article-title":"Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care","volume":"145","author":"Pirozzi","year":"2022","journal-title":"Brain"},{"key":"2026100419572715300_awag086-B15","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1038\/s41392-023-01608-z","article-title":"Multifaceted role of mTOR (mammalian target of rapamycin) signaling pathway in human health and disease","volume":"8","author":"Panwar","year":"2023","journal-title":"Signal Transduct Target Ther"},{"key":"2026100419572715300_awag086-B16","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41436-018-0060-2","article-title":"The landscape of epilepsy-related GATOR1 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Time for a classification update?","volume":"197","author":"Alsayed","year":"2025","journal-title":"Am J Med Genet A."},{"key":"2026100419572715300_awag086-B26","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1111\/epi.13391","article-title":"Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia","volume":"57","author":"Weckhuysen","year":"2016","journal-title":"Epilepsia"},{"key":"2026100419572715300_awag086-B27","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/s41592-018-0255-0","article-title":"Reliability of human cortical organoid generation","volume":"16","author":"Yoon","year":"2019","journal-title":"Nat Methods"},{"key":"2026100419572715300_awag086-B28","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1038\/s41591-018-0139-y","article-title":"Genetically engineered human cortical spheroid models of tuberous sclerosis","volume":"24","author":"Blair","year":"2018","journal-title":"Nat 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