{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:03:04Z","timestamp":1791928984114,"version":"4.3.4"},"reference-count":69,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271497"],"award-info":[{"award-number":["82271497"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901322"],"award-info":[{"award-number":["81901322"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024880","name":"Central Clinical School, Faculty of Medicine, Nursing and Health Sciences, Monash University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024880","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001779","name":"Monash University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001779","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1016\/j.nbd.2025.106842","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T16:37:38Z","timestamp":1739464658000},"page":"106842","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling"],"prefix":"10.1016","volume":"207","author":[{"given":"Jie","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fenglin","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanlin","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Kwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0005","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1684\/epd.2019.1025","article-title":"DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family","volume":"21","author":"Aberastury","year":"2019","journal-title":"Epileptic Disord."},{"issue":"8","key":"10.1016\/j.nbd.2025.106842_bb0010","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1002\/jcp.24351","article-title":"mTOR signaling for biological control and cancer","volume":"228","author":"Alayev","year":"2013","journal-title":"J. Cell. Physiol."},{"issue":"23","key":"10.1016\/j.nbd.2025.106842_bb0015","doi-asserted-by":"crossref","first-page":"4597","DOI":"10.1093\/hmg\/ddr393","article-title":"Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex","volume":"20","author":"Anderl","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0020","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41436-018-0060-2","article-title":"The landscape of epilepsy-related GATOR1 variants","volume":"21","author":"Baldassari","year":"2019","journal-title":"Genet. Med."},{"issue":"6136","key":"10.1016\/j.nbd.2025.106842_bb0025","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1126\/science.1232044","article-title":"A tumor suppressor complex with GAP activity for the rag GTPases that signal amino acid sufficiency to mTORC1","volume":"340","author":"Bar-Peled","year":"2013","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0030","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/ana.24368","article-title":"Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations","volume":"77","author":"Baulac","year":"2015","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0035","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1016\/j.jpeds.2013.12.053","article-title":"Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex","volume":"164","author":"Cardamone","year":"2014","journal-title":"J. Pediatr."},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0040","doi-asserted-by":"crossref","first-page":"366","DOI":"10.4161\/auto.6.3.11261","article-title":"Activation of autophagy and Akt\/CREB signaling play an equivalent role in the neuroprotective effect of rapamycin in neonatal hypoxia-ischemia","volume":"6","author":"Carloni","year":"2010","journal-title":"Autophagy"},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0045","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000016","article-title":"Epileptic spasms are a feature of DEPDC5 mTORopathy","volume":"1","author":"Carvill","year":"2015","journal-title":"Neurol Genet."},{"issue":"6","key":"10.1016\/j.nbd.2025.106842_bb0050","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1093\/brain\/awab199","article-title":"One step closer towards personalized epilepsy management","volume":"144","author":"Chen","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2025.106842_bb0055","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/978-1-4939-9837-1_3","article-title":"Integrase-mediated targeted Transgenics through pronuclear microinjection","volume":"2066","author":"Chen-Tsai","year":"2020","journal-title":"Methods Mol. Biol."},{"issue":"5\u20136","key":"10.1016\/j.nbd.2025.106842_bb0060","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1159\/000514006","article-title":"Phosphorylation of S6 protein as a potential biomarker in surgically treated refractory epilepsy","volume":"42","author":"Chodraui","year":"2020","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.nbd.2025.106842_bb0065","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.phrs.2016.03.039","article-title":"mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis","volume":"107","author":"Citraro","year":"2016","journal-title":"Pharmacol. Res."},{"issue":"12","key":"10.1016\/j.nbd.2025.106842_bb0070","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.molmed.2011.07.008","article-title":"mTOR: a pathogenic signaling pathway in developmental brain malformations","volume":"17","author":"Crino","year":"2011","journal-title":"Trends Mol. Med."},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0075","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a022442","article-title":"mTOR signaling in epilepsy: insights from malformations of cortical development","volume":"5","author":"Crino","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"issue":"6","key":"10.1016\/j.nbd.2025.106842_bb0080","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1586\/ern.13.49","article-title":"mTOR inhibitors as a new therapeutic option for epilepsy","volume":"13","author":"Curatolo","year":"2013","journal-title":"Expert. Rev. Neurother."},{"key":"10.1016\/j.nbd.2025.106842_bb0085","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2020.104822","article-title":"Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis","volume":"139","author":"De Fusco","year":"2020","journal-title":"Neurobiol. Dis."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0090","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1038\/ng.2599","article-title":"Mutations in DEPDC5 cause familial focal epilepsy with variable foci","volume":"45","author":"Dibbens","year":"2013","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.nbd.2025.106842_bb0095","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1242\/dmm.026120","article-title":"Rodent models in neuroscience research: is it a rat race?","volume":"9","author":"Ellenbroek","year":"2016","journal-title":"Dis. Model. Mech."},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0100","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.nbd.2006.12.003","article-title":"Rapamycin is a neuroprotective treatment for traumatic brain injury","volume":"26","author":"Erlich","year":"2007","journal-title":"Neurobiol. Dis."},{"issue":"18","key":"10.1016\/j.nbd.2025.106842_bb0105","doi-asserted-by":"crossref","first-page":"3151","DOI":"10.1038\/sj.onc.1207542","article-title":"Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression","volume":"23","author":"Fingar","year":"2004","journal-title":"Oncogene"},{"issue":"9861","key":"10.1016\/j.nbd.2025.106842_bb0110","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0140-6736(12)61134-9","article-title":"Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial","volume":"381","author":"Franz","year":"2013","journal-title":"Lancet"},{"issue":"16","key":"10.1016\/j.nbd.2025.106842_bb0115","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1101\/gad.1212704","article-title":"Upstream and downstream of mTOR","volume":"18","author":"Hay","year":"2004","journal-title":"Genes Dev."},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0120","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.neuron.2010.09.027","article-title":"Genetic mosaic dissection of Lis1 and Ndel1 in neuronal migration","volume":"68","author":"Hippenmeyer","year":"2010","journal-title":"Neuron"},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0125","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.tem.2010.12.003","article-title":"mTOR couples cellular nutrient sensing to organismal metabolic homeostasis","volume":"22","author":"Howell","year":"2011","journal-title":"Trends Endocrinol. Metab."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0130","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/ng.2601","article-title":"Mutations of DEPDC5 cause autosomal dominant focal epilepsies","volume":"45","author":"Ishida","year":"2013","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0135","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/acn3.51505","article-title":"Sirolimus for epileptic seizures associated with focal cortical dysplasia type II","volume":"9","author":"Kato","year":"2022","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"8","key":"10.1016\/j.nbd.2025.106842_bb0140","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1093\/hmg\/ddaa068","article-title":"Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1","volume":"29","author":"Klofas","year":"2020","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0145","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/hmg\/11.5.525","article-title":"A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells","volume":"11","author":"Kwiatkowski","year":"2002","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0150","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/ana.24127","article-title":"DEPDC5 mutations in genetic focal epilepsies of childhood","volume":"75","author":"Lal","year":"2014","journal-title":"Ann. Neurol."},{"issue":"Pt 20","key":"10.1016\/j.nbd.2025.106842_bb0155","doi-asserted-by":"crossref","first-page":"3589","DOI":"10.1242\/jcs.051011","article-title":"mTOR signaling at a glance","volume":"122","author":"Laplante","year":"2009","journal-title":"J. Cell Sci."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0160","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.cell.2012.03.017","article-title":"mTOR signaling in growth control and disease","volume":"149","author":"Laplante","year":"2012","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0165","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/nm.3824","article-title":"Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy","volume":"21","author":"Lim","year":"2015","journal-title":"Nat. Med."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0170","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.neuron.2014.09.034","article-title":"The neurology of mTOR","volume":"84","author":"Lipton","year":"2014","journal-title":"Neuron"},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0175","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/ana.20949","article-title":"Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia","volume":"60","author":"Ljungberg","year":"2006","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0180","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/nan.12463","article-title":"Review: mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy","volume":"44","author":"Marsan","year":"2018","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.nbd.2025.106842_bb0185","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.nbd.2016.02.010","article-title":"Depdc5 knockout rat: a novel model of mTORopathy","volume":"89","author":"Marsan","year":"2016","journal-title":"Neurobiol. Dis."},{"issue":"6","key":"10.1016\/j.nbd.2025.106842_bb0190","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/cge.12311","article-title":"A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population","volume":"86","author":"Martin","year":"2014","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0195","doi-asserted-by":"crossref","DOI":"10.1093\/braincomms\/fcab222","article-title":"Epilepsy in the mTORopathies: opportunities for precision medicine","volume":"3","author":"Moloney","year":"2021","journal-title":"Brain Commun."},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0200","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1006\/mcne.2002.1184","article-title":"Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway","volume":"21","author":"Onda","year":"2002","journal-title":"Mol. Cell. Neurosci."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0205","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s40263-014-0223-x","article-title":"mTOR inhibition in epilepsy: rationale and clinical perspectives","volume":"29","author":"Ostendorf","year":"2015","journal-title":"CNS Drugs"},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0210","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ejpn.2011.09.006","article-title":"Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex","volume":"16","author":"Perek-Polnik","year":"2012","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"23","key":"10.1016\/j.nbd.2025.106842_bb0215","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1212\/WNL.0000000000000488","article-title":"DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy","volume":"82","author":"Picard","year":"2014","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0220","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0013-4694(72)90177-0","article-title":"Modification of seizure activity by electrical stimulation. II. Motor seizure","volume":"32","author":"Racine","year":"1972","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0225","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ana.24547","article-title":"Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy","volume":"79","author":"Ricos","year":"2016","journal-title":"Ann. Neurol."},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0230","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1007\/s12035-012-8314-5","article-title":"The mTOR signaling pathway in the brain: focus on epilepsy and epileptogenesis","volume":"46","author":"Russo","year":"2012","journal-title":"Mol. Neurobiol."},{"issue":"6228","key":"10.1016\/j.nbd.2025.106842_bb0235","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1126\/science.aaa1299","article-title":"Epilepsy treatment. Targeting LDH enzymes with a stiripentol analog to treat epilepsy","volume":"347","author":"Sada","year":"2015","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0240","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.pharep.2014.12.017","article-title":"Role of mTOR inhibitors in epilepsy treatment","volume":"67","author":"Sadowski","year":"2015","journal-title":"Pharmacol. Rep."},{"issue":"6","key":"10.1016\/j.nbd.2025.106842_bb0245","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ceb.2005.09.009","article-title":"Growing roles for the mTOR pathway","volume":"17","author":"Sarbassov","year":"2005","journal-title":"Curr. Opin. Cell Biol."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0250","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/acn3.191","article-title":"Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5","volume":"2","author":"Scerri","year":"2015","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0255","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1002\/ana.24126","article-title":"Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations","volume":"75","author":"Scheffer","year":"2014","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0260","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/ana.24502","article-title":"Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3","volume":"79","author":"Sim","year":"2016","journal-title":"Ann. Neurol."},{"issue":"2","key":"10.1016\/j.nbd.2025.106842_bb0265","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1634\/stemcells.2007-0039","article-title":"Robust, persistent transgene expression in human embryonic stem cells is achieved with AAVS1-targeted integration","volume":"26","author":"Smith","year":"2008","journal-title":"Stem Cells"},{"issue":"10","key":"10.1016\/j.nbd.2025.106842_bb0270","doi-asserted-by":"crossref","first-page":"e168","DOI":"10.1111\/epi.13094","article-title":"DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy","volume":"56","author":"Striano","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.nbd.2025.106842_bb0275","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.neuroscience.2016.11.017","article-title":"Molecular neurobiology of mTOR","volume":"341","author":"Switon","year":"2017","journal-title":"Neuroscience"},{"issue":"19","key":"10.1016\/j.nbd.2025.106842_bb0280","doi-asserted-by":"crossref","first-page":"7902","DOI":"10.1073\/pnas.1019507108","article-title":"Site-specific integrase-mediated transgenesis in mice via pronuclear injection","volume":"108","author":"Tasic","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.nbd.2025.106842_bb0285","article-title":"A review of the epidemiology of temporal lobe epilepsy","volume":"2012","author":"T\u00e9llez-Zenteno","year":"2012","journal-title":"Epilepsy Res Treat."},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0290","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ana.10283","article-title":"Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures","volume":"52","author":"Uhlmann","year":"2002","journal-title":"Ann. Neurol."},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0295","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1055\/s-0035-1552622","article-title":"Megalencephaly and macrocephaly","volume":"35","author":"Winden","year":"2015","journal-title":"Semin. Neurol."},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0300","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1111\/j.1528-1167.2007.01270.x","article-title":"Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation","volume":"49","author":"Wong","year":"2008","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.nbd.2025.106842_bb0305","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1528-1167.2009.02341.x","article-title":"Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies","volume":"51","author":"Wong","year":"2010","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.nbd.2025.106842_bb0310","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1586\/ern.13.48","article-title":"A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials","volume":"13","author":"Wong","year":"2013","journal-title":"Expert. Rev. Neurother."},{"key":"10.1016\/j.nbd.2025.106842_bb0315","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.expneurol.2011.10.002","article-title":"Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations","volume":"244","author":"Wong","year":"2013","journal-title":"Exp. Neurol."},{"issue":"4","key":"10.1016\/j.nbd.2025.106842_bb0320","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/cr.2014.25","article-title":"Species-dependent neuropathology in transgenic SOD1 pigs","volume":"24","author":"Yang","year":"2014","journal-title":"Cell Res."},{"key":"10.1016\/j.nbd.2025.106842_bb0325","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.nbd.2017.12.010","article-title":"A mouse model of DEPDC5-related epilepsy: neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility","volume":"111","author":"Yuskaitis","year":"2018","journal-title":"Neurobiol. Dis."},{"issue":"17","key":"10.1016\/j.nbd.2025.106842_bb0330","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1093\/hmg\/ddz123","article-title":"Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice","volume":"28","author":"Yuskaitis","year":"2019","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.nbd.2025.106842_bb0335","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000069","article-title":"An inducible and reversible mouse genetic rescue system","volume":"4","author":"Zeng","year":"2008","journal-title":"PLoS Genet."},{"issue":"21","key":"10.1016\/j.nbd.2025.106842_bb0340","doi-asserted-by":"crossref","first-page":"6964","DOI":"10.1523\/JNEUROSCI.0066-09.2009","article-title":"The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy","volume":"29","author":"Zeng","year":"2009","journal-title":"J. Neurosci."},{"issue":"3","key":"10.1016\/j.nbd.2025.106842_bb0345","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/hmg\/ddq491","article-title":"Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex","volume":"20","author":"Zeng","year":"2011","journal-title":"Hum. Mol. Genet."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125000580?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125000580?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T18:49:19Z","timestamp":1766083759000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996125000580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":69,"alternative-id":["S0969996125000580"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2025.106842","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2025.106842","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"106842"}}