{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:00:01Z","timestamp":1790503201848,"version":"4.1.0"},"reference-count":148,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","epilepsybehavior.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy &amp; Behavior"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.yebeh.2020.107713","type":"journal-article","created":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T09:49:55Z","timestamp":1610444995000},"page":"107713","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"PB","title":["Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway"],"prefix":"10.1016","volume":"131","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6200-060X","authenticated-orcid":false,"given":"Romina","family":"Moavero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9102-7353","authenticated-orcid":false,"given":"Angelika","family":"M\u00fchlebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark Jasper","family":"Luinenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Craiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Aronica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Curatolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9114","key":"10.1016\/j.yebeh.2020.107713_b0005","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","article-title":"Prevalence of tuberous sclerosis estimated by capture-recapture analysis","volume":"351","author":"O\u2019Callaghan","year":"1998","journal-title":"Lancet"},{"issue":"9639","key":"10.1016\/j.yebeh.2020.107713_b0010","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"issue":"7","key":"10.1016\/j.yebeh.2020.107713_b0015","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","article-title":"Neurological and neuropsychiatric aspects of tuberous sclerosis complex","volume":"14","author":"Curatolo","year":"2015","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0020","doi-asserted-by":"crossref","unstructured":"Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 1993. 75(7): 1305-15.","DOI":"10.1016\/0092-8674(93)90618-Z"},{"issue":"5327","key":"10.1016\/j.yebeh.2020.107713_b0025","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"van Slegtenhorst","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.yebeh.2020.107713_b0030","doi-asserted-by":"crossref","DOI":"10.1038\/s41436-020-0823-4","article-title":"TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study","author":"Og\u00f3rek","year":"2020","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0035","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.spen.2015.10.002","article-title":"Genotype\/phenotype correlations in tuberous sclerosis complex","volume":"22","author":"Curatolo","year":"2015","journal-title":"Sem Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0040","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.braindev.2008.09.013","article-title":"Recent advances in neurobiology of Tuberous Sclerosis Complex","volume":"31","author":"Napolioni","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.yebeh.2020.107713_b0045","doi-asserted-by":"crossref","unstructured":"Galanopoulou AS, Buckmaster PS, Staley KJ, Moshe SL, Perucca E, Engel J, Jr., et al., Identification of new epilepsy treatments: issues in preclinical methodology. Epilepsia, 2012. 53(3): 571-82.","DOI":"10.1111\/j.1528-1167.2011.03391.x"},{"issue":"8534","key":"10.1016\/j.yebeh.2020.107713_b0050","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0140-6736(87)90416-8","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"1","author":"Fryer","year":"1987","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0055","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1007\/s004010000269","article-title":"Developmental expression of the tuberous sclerosis proteins tuberin and hamartin","volume":"101","author":"Murthy","year":"2001","journal-title":"Acta Neuropathol"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ijc.21542","article-title":"Hamartin and tuberin: Working together for tumour suppression","volume":"118","author":"Jozwiak","year":"2006","journal-title":"Int J Cancer"},{"issue":"25","key":"10.1016\/j.yebeh.2020.107713_b0065","doi-asserted-by":"crossref","first-page":"2889","DOI":"10.1093\/hmg\/10.25.2889","article-title":"TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex","volume":"10","author":"Nellist","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.yebeh.2020.107713_b0070","doi-asserted-by":"crossref","unstructured":"Santiago Lima AJ, Hoogeveen-Westerveld M, Nakashima A, Maat-Kievit A, van den Ouweland A, Halley D, et al., Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex. PLoS One, 2014. 9(4): e93940.","DOI":"10.1371\/journal.pone.0093940"},{"issue":"16","key":"10.1016\/j.yebeh.2020.107713_b0075","doi-asserted-by":"crossref","first-page":"8591","DOI":"10.1074\/jbc.M115.701870","article-title":"Structural basis of the interaction between tuberous sclerosis complex 1 (TSC1) and Tre2-Bub2-Cdc16 domain family member 7 (TBC1D7)","volume":"291","author":"Qin","year":"2016","journal-title":"J Biol Chem"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0080","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"},{"key":"10.1016\/j.yebeh.2020.107713_b0085","doi-asserted-by":"crossref","first-page":"28","DOI":"10.3389\/fnmol.2014.00028","article-title":"mTOR signaling and its roles in normal and abnormal brain development","volume":"7","author":"Takei","year":"2014","journal-title":"Front Mol Neurosci"},{"key":"10.1016\/j.yebeh.2020.107713_b0090","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":"4","key":"10.1016\/j.yebeh.2020.107713_b0095","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ana.21369","article-title":"Rapamycin and tuberous sclerosis complex: From Easter Island to epilepsy","volume":"63","author":"Crino","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0100","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.semcdb.2016.01.040","article-title":"The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex","volume":"52","author":"Tee","year":"2016","journal-title":"Semin Cell Dev Biol"},{"issue":"6076","key":"10.1016\/j.yebeh.2020.107713_b0105","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1126\/science.1215135","article-title":"Rapamycin-induced insulin resistance is mediated by mTORC2 loss and uncoupled from longevity","volume":"335","author":"Lamming","year":"2012","journal-title":"Science"},{"issue":"12","key":"10.1016\/j.yebeh.2020.107713_b0110","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1093\/neuonc\/nov152","article-title":"Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex","volume":"17","author":"MacKeigan","year":"2015","journal-title":"Neuro Oncol"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0115","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1016\/j.cell.2017.02.004","article-title":"mTOR signaling in growth, metabolism, and disease","volume":"168","author":"Saxton","year":"2017","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0120","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/epi.13634","article-title":"Progress report on new antiepileptic drugs: A summary of the Thirteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIII)","volume":"58","author":"Bialer","year":"2017","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0125","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.ejpn.2018.05.006","article-title":"Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations","volume":"22","author":"Curatolo","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0130","doi-asserted-by":"crossref","first-page":"1726078","DOI":"10.1155\/2017\/1726078","article-title":"Resistance to mTORC1 inhibitors in cancer therapy: from kinase mutations to intratumoral heterogeneity of kinase activity","volume":"2017","author":"Faes","year":"2017","journal-title":"Oxid Med Cell Longev"},{"issue":"7606","key":"10.1016\/j.yebeh.2020.107713_b0135","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature17963","article-title":"Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor","volume":"534","author":"Rodrik-Outmezguine","year":"2016","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0140","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1590\/1678-4685-gmb-2015-0321","article-title":"TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review","volume":"40","author":"Rosset","year":"2017","journal-title":"Genet Mol Biol"},{"key":"10.1016\/j.yebeh.2020.107713_b0145","doi-asserted-by":"crossref","first-page":"15816","DOI":"10.1038\/ncomms15816","article-title":"The genomic landscape of tuberous sclerosis complex","volume":"8","author":"Martin","year":"2017","journal-title":"Nat Commun"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0150","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1146\/annurev-genom-083118-015354","article-title":"Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex","volume":"20","author":"Salussolia","year":"2019","journal-title":"Annu Rev Genom Hum Genet"},{"key":"10.1016\/j.yebeh.2020.107713_b0155","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2019.03.003","article-title":"Tuberous sclerosis complex genotypes and developmental phenotype","volume":"96","author":"Farach","year":"2019","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0160","doi-asserted-by":"crossref","unstructured":"Bongaarts A, van Scheppingen J, Korotkov A, Mijnsbergen C, Anink JJ, Jansen FE, et al., The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas. Brain, 2020. 143(1): 131-149.","DOI":"10.1093\/brain\/awz370"},{"issue":"56","key":"10.1016\/j.yebeh.2020.107713_b0165","doi-asserted-by":"crossref","first-page":"95516","DOI":"10.18632\/oncotarget.20764","article-title":"Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1\/TSC2 biallelic inactivation, and no BRAF mutations","volume":"8","author":"Bongaarts","year":"2017","journal-title":"Oncotarget"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0170","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1080\/14737175.2018.1428562","article-title":"mTOR dysregulation and tuberous sclerosis-related epilepsy","volume":"18","author":"Curatolo","year":"2018","journal-title":"Expert Rev Neurother"},{"key":"10.1016\/j.yebeh.2020.107713_b0175","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ceb.2017.02.012","article-title":"mTORC1 signaling and the metabolic control of cell growth","volume":"45","author":"Ben-Sahra","year":"2017","journal-title":"Curr Opin Cell Biol"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0180","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0092-8674(03)00929-2","article-title":"TSC2 mediates cellular energy response to control cell growth and survival","volume":"115","author":"Inoki","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.yebeh.2020.107713_b0185","doi-asserted-by":"crossref","first-page":"9820181","DOI":"10.1155\/2017\/9820181","article-title":"Recent advances and challenges of mTOR inhibitors use in the treatment of patients with tuberous sclerosis complex","volume":"2017","author":"Palavra","year":"2017","journal-title":"Oxid Med Cell Longev"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0190","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1111\/bpa.12452","article-title":"Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex","volume":"27","author":"Scholl","year":"2017","journal-title":"Brain Pathol"},{"issue":"15","key":"10.1016\/j.yebeh.2020.107713_b0195","doi-asserted-by":"crossref","first-page":"2993","DOI":"10.1523\/JNEUROSCI.1434-18.2020","article-title":"Mechanistic target of rapamycin regulates the oligodendrocyte cytoskeleton during myelination","volume":"40","author":"Musah","year":"2020","journal-title":"J Neurosci"},{"issue":"12","key":"10.1016\/j.yebeh.2020.107713_b0200","doi-asserted-by":"crossref","first-page":"8023","DOI":"10.1074\/jbc.M900301200","article-title":"An ATP-competitive mammalian target of rapamycin inhibitor reveals rapamycin-resistant functions of mTORC1","volume":"284","author":"Thoreen","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.yebeh.2020.107713_b0205","doi-asserted-by":"crossref","unstructured":"Galanopoulou AS, Gorter JA, and Cepeda C, Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target. Epilepsia, 2012. 53(7): 1119-30.","DOI":"10.1111\/j.1528-1167.2012.03506.x"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0210","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":"5","key":"10.1016\/j.yebeh.2020.107713_b0215","doi-asserted-by":"crossref","first-page":"e35885","DOI":"10.1371\/journal.pone.0035885","article-title":"The interaction between early life epilepsy and autistic-like behavioral consequences: a role for the mammalian target of rapamycin (mTOR) pathway","volume":"7","author":"Talos","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.yebeh.2020.107713_b0220","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.nbd.2016.07.014","article-title":"Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions","volume":"95","author":"Ruffolo","year":"2016","journal-title":"Neurobiol Dis"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0225","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.nbd.2011.08.015","article-title":"Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex","volume":"45","author":"Cepeda","year":"2012","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.yebeh.2020.107713_b0230","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2019.104618","article-title":"Pathological high frequency oscillations associate with increased GABA synaptic activity in pediatric epilepsy surgery patients","volume":"134","author":"Cepeda","year":"2020","journal-title":"Neurobiol Dis"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0235","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.3390\/ijms19051544","article-title":"Role of mTOR complexes in neurogenesis","volume":"19","author":"LiCausi","year":"2018","journal-title":"Int J Mol Sci"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0240","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.neuroscience.2006.11.041","article-title":"Differential expression patterns of chloride transporters, Na+-K+-2Cl\u2212-cotransporter and K+-Cl\u2212-cotransporter, in epilepsy-associated malformations of cortical development","volume":"145","author":"Aronica","year":"2007","journal-title":"Neuroscience"},{"key":"10.1016\/j.yebeh.2020.107713_b0245","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nbd.2013.10.001","article-title":"Pacemaker GABA synaptic activity may contribute to network synchronization in pediatric cortical dysplasia","volume":"62","author":"Cepeda","year":"2014","journal-title":"Neurobiol Dis"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0250","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s11689-019-9289-6","article-title":"The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex","volume":"11","author":"Wong","year":"2019","journal-title":"J Neurodevelop Disord"},{"key":"10.1016\/j.yebeh.2020.107713_b0255","unstructured":"Zimmer TS, Broekaart DWM, Grube VE, van Vliet EA, Muhlebner A, and Aronica E, Tuberous Sclerosis Complex as disease model for investigating mTOR-related gliopathy in epileptogenesis and cognitive disabilities. submitted."},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0260","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1038\/s41467-017-00933-6","article-title":"Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability","volume":"8","author":"Reijnders","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.yebeh.2020.107713_b0265","doi-asserted-by":"crossref","unstructured":"Crino PB, mTOR signaling in epilepsy: insights from malformations of cortical development. Cold Spring Harb Perspect Med, 2015. 5(4).","DOI":"10.1101\/cshperspect.a022442"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0270","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/joa.12956","article-title":"New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives","volume":"235","author":"Muhlebner","year":"2019","journal-title":"J Anat"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0275","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1007\/s00401-019-02052-6","article-title":"Precise detection of low-level somatic mutation in resected epilepsy brain tissue","volume":"138","author":"Sim","year":"2019","journal-title":"Acta Neuropathol"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0280","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s00401-019-02061-5","article-title":"Dissecting the genetic basis of focal cortical dysplasia: a large cohort study","volume":"138","author":"Baldassari","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.yebeh.2020.107713_b0285","unstructured":"Aronica E, Muhlebner A, Neuropathology of epilepsy, in Handbook of clinical neurology 3rd series, E. Alafuzoff, Editor. 2017, Elsevier."},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0290","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s00401-019-02003-1","article-title":"An update on the central nervous system manifestations of tuberous sclerosis complex","volume":"139","author":"Cotter","year":"2020","journal-title":"Acta Neuropathol"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0295","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1111\/j.1528-1157.1990.tb05516.x","article-title":"Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis","volume":"31","author":"Cusmai","year":"1990","journal-title":"Epilepsia"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0300","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1177\/08830738060210020901","article-title":"Tuberous sclerosis complex: correlation of magnetic resonance imaging (MRI) findings with comorbidities","volume":"21","author":"Wong","year":"2006","journal-title":"J Child Neurol"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0305","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/j.1528-1167.2006.00373.x","article-title":"Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG","volume":"47","author":"Jansen","year":"2006","journal-title":"Epilepsia"},{"issue":"Pt 10","key":"10.1016\/j.yebeh.2020.107713_b0310","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1093\/brain\/aww192","article-title":"Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis","volume":"139","author":"Kannan","year":"2016","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0315","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/j.1528-1167.2008.01814.x","article-title":"Are cortical tubers epileptogenic? Evidence from electrocorticography","volume":"50","author":"Major","year":"2009","journal-title":"Epilepsia"},{"issue":"7","key":"10.1016\/j.yebeh.2020.107713_b0320","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1111\/j.1528-1167.2009.02493.x","article-title":"Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex","volume":"51","author":"Moshel","year":"2010","journal-title":"Epilepsia"},{"issue":"10","key":"10.1016\/j.yebeh.2020.107713_b0325","doi-asserted-by":"crossref","first-page":"1602","DOI":"10.1111\/epi.12761","article-title":"Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex","volume":"55","author":"Okanishi","year":"2014","journal-title":"Epilepsia"},{"issue":"23","key":"10.1016\/j.yebeh.2020.107713_b0330","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1212\/WNL.0000000000002202","article-title":"DTI of tuber and perituberal tissue can predict epileptogenicity in tuberous sclerosis complex","volume":"85","author":"Yogi","year":"2015","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0335","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/epi.16410","article-title":"Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study","volume":"61","author":"Neal","year":"2020","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0340","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0157396","article-title":"Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex","volume":"11","author":"Muhlebner","year":"2016","journal-title":"PLoS ONE"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0345","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00401-012-0950-3","article-title":"Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex","volume":"123","author":"Marcotte","year":"2012","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.yebeh.2020.107713_b0350","doi-asserted-by":"crossref","DOI":"10.1111\/j.1440-1789.2008.00920.x","article-title":"Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex","author":"Boer","year":"2008","journal-title":"Neuropathology"},{"key":"10.1016\/j.yebeh.2020.107713_b0355","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s11689-016-9142-0","article-title":"Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression","volume":"8","author":"Muhlebner","year":"2016","journal-title":"J Neurodev Disord"},{"issue":"12","key":"10.1016\/j.yebeh.2020.107713_b0360","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1111\/j.1528-1167.2009.02193.x","article-title":"Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: clinical and neuropathologic findings","volume":"50","author":"Chu-Shore","year":"2009","journal-title":"Epilepsia"},{"issue":"8","key":"10.1016\/j.yebeh.2020.107713_b0365","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1007\/s00415-010-5535-2","article-title":"MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex","volume":"257","author":"Gallagher","year":"2010","journal-title":"J Neurol"},{"issue":"2\u20133","key":"10.1016\/j.yebeh.2020.107713_b0370","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.eplepsyres.2009.09.001","article-title":"Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex","volume":"87","author":"Gallagher","year":"2009","journal-title":"Epilepsy Res"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0375","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/cercor\/bhs310","article-title":"Fetal brain mTOR signaling activation in tuberous sclerosis complex","volume":"24","author":"Tsai","year":"2014","journal-title":"Cereb Cortex"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0380","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1750-3639.2012.00616.x","article-title":"Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation","volume":"23","author":"Prabowo","year":"2013","journal-title":"Brain Pathol"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0385","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.acra.2011.08.016","article-title":"Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex","volume":"19","author":"Peters","year":"2012","journal-title":"Acad Radiol"},{"issue":"13","key":"10.1016\/j.yebeh.2020.107713_b0390","doi-asserted-by":"crossref","first-page":"4453","DOI":"10.1523\/JNEUROSCI.4311-13.2014","article-title":"Mammalian target of rapamycin promotes oligodendrocyte differentiation, initiation and extent of CNS myelination","volume":"34","author":"Wahl","year":"2014","journal-title":"J Neurosci"},{"issue":"25","key":"10.1016\/j.yebeh.2020.107713_b0395","doi-asserted-by":"crossref","first-page":"8432","DOI":"10.1523\/JNEUROSCI.1105-14.2014","article-title":"Balanced mTORC1 activity in oligodendrocytes is required for accurate CNS myelination","volume":"34","author":"Lebrun-Julien","year":"2014","journal-title":"J Neurosci"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0400","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.stemcr.2018.11.019","article-title":"Neuron-glia interactions increase neuronal phenotypes in tuberous sclerosis complex patient iPSC-derived models","volume":"12","author":"Nadadhur","year":"2019","journal-title":"Stem Cell Rep"},{"key":"10.1016\/j.yebeh.2020.107713_b0405","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/978-1-0716-0585-1_9","article-title":"Establishing myelinating cocultures using human iPSC-derived sensory neurons to investigate axonal degeneration and demyelination","volume":"2143","author":"Clark","year":"2020","journal-title":"Methods Mol Biol"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0410","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/epi.12545","article-title":"Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex","volume":"55","author":"Ruppe","year":"2014","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0415","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00401-013-1085-x","article-title":"Evolving neurobiology of tuberous sclerosis complex","volume":"125","author":"Crino","year":"2013","journal-title":"Acta Neuropathol"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0420","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1080\/15548627.2019.1569441","article-title":"The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy","volume":"15","author":"Ho","year":"2019","journal-title":"Autophagy"},{"issue":"8","key":"10.1016\/j.yebeh.2020.107713_b0425","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1080\/15548627.2017.1327927","article-title":"MTOR controls genesis and autophagy of GABAergic interneurons during brain development","volume":"13","author":"Ka","year":"2017","journal-title":"Autophagy"},{"issue":"9","key":"10.1016\/j.yebeh.2020.107713_b0430","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1093\/cercor\/bhr300","article-title":"GABAergic interneuron development and function is modulated by the Tsc1 gene","volume":"22","author":"Fu","year":"2012","journal-title":"Cereb Cortex"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0435","doi-asserted-by":"crossref","first-page":"eaau8237","DOI":"10.1126\/sciadv.aau8237","article-title":"GABARAPs dysfunction by autophagy deficiency in adolescent brain impairs GABAA receptor trafficking and social behavior","volume":"5","author":"Hui","year":"2019","journal-title":"Sci Adv"},{"key":"10.1016\/j.yebeh.2020.107713_b0440","doi-asserted-by":"crossref","first-page":"4563","DOI":"10.1038\/ncomms5563","article-title":"Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model","volume":"5","author":"Lozovaya","year":"2014","journal-title":"Nat Commun"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0445","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1002\/ana.23943","article-title":"TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice","volume":"74","author":"Abs","year":"2013","journal-title":"Ann Neurol"},{"issue":"14","key":"10.1016\/j.yebeh.2020.107713_b0450","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1523\/JNEUROSCI.2260-18.2019","article-title":"mTOR hyperactivity levels influence the severity of epilepsy and associated neuropathology in an experimental model of tuberous sclerosis complex and focal cortical dysplasia","volume":"39","author":"Nguyen","year":"2019","journal-title":"J Neurosci"},{"key":"10.1016\/j.yebeh.2020.107713_b0455","article-title":"The natural history of epilepsy in tuberous sclerosis complex","author":"Chu-Shore","year":"2009","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0460","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/epi4.12286","article-title":"Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study","volume":"4","author":"Nabbout","year":"2019","journal-title":"Epilepsia Open"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0465","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1086\/316951","article-title":"Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs","volume":"68","author":"Dabora","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.yebeh.2020.107713_b0470","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1111\/epi.12430","article-title":"Epilepsy in TSC: certain etiology does not mean certain prognosis","volume":"54","author":"Vignoli","year":"2013","journal-title":"Epilepsia"},{"issue":"12","key":"10.1016\/j.yebeh.2020.107713_b0475","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1212\/01.wnl.0000280579.04974.c0","article-title":"Cognitive impairment in tuberous sclerosis complex is a multifactorial condition","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0480","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.yebeh.2011.08.037","article-title":"Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis","volume":"22","author":"Cusmai","year":"2011","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2020.107713_b0485","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ejpn.2009.03.003","article-title":"Early control of seizures improves long-term outcome in children with tuberous sclerosis complex","volume":"14","author":"Bombardieri","year":"2010","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0490","doi-asserted-by":"crossref","DOI":"10.1016\/j.pediatrneurol.2019.07.008","article-title":"Preventive antiepileptic treatment in tuberous sclerosis complex: long-term, prospective trial","author":"Jozwiak","year":"2019","journal-title":"Pediatr Neurol"},{"issue":"7","key":"10.1016\/j.yebeh.2020.107713_b0495","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1002\/acn3.50829","article-title":"Effects of antiepileptic drugs in a new TSC\/mTOR-dependent epilepsy mouse model","volume":"6","author":"Koene","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0500","doi-asserted-by":"crossref","DOI":"10.1016\/j.pediatrneurol.2020.04.002","article-title":"Pilot study of neurodevelopmental impact of early epilepsy surgery in tuberous sclerosis complex","author":"Grayson","year":"2020","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0505","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1093\/brain\/awz411","article-title":"Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China","volume":"143","author":"Liu","year":"2020","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0510","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.pediatrneurol.2010.03.003","article-title":"Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis","volume":"43","author":"Zamponi","year":"2010","journal-title":"Pediatr Neurol"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0515","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1684\/epd.2015.0768","article-title":"Vagus nerve stimulation in children with drug-resistant epilepsy: age at implantation and shorter duration of epilepsy as predictors of better efficacy?","volume":"17","author":"Lagae","year":"2015","journal-title":"Epileptic Disord"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0520","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1111\/j.1528-1167.2011.02981.x","article-title":"The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway","volume":"52","author":"McDaniel","year":"2011","journal-title":"Epilepsia"},{"issue":"10","key":"10.1016\/j.yebeh.2020.107713_b0525","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1111\/j.1528-1167.2005.00266.x","article-title":"Tuberous sclerosis complex and the ketogenic diet","volume":"46","author":"Kossoff","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2020.107713_b0530","doi-asserted-by":"crossref","unstructured":"Coppola G, Klepper J, Ammendola E, Fiorillo M, della Corte R, Capano G, et al., The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis. Eur J Paediatr Neurol, 2006. 10(3): 148-51.","DOI":"10.1016\/j.ejpn.2006.03.001"},{"issue":"1\u20132","key":"10.1016\/j.yebeh.2020.107713_b0535","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.eplepsyres.2011.10.021","article-title":"Low glycemic index treatment for epilepsy in tuberous sclerosis complex","volume":"99","author":"Larson","year":"2012","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.yebeh.2020.107713_b0540","doi-asserted-by":"crossref","DOI":"10.1016\/j.eplepsyres.2020.106348","article-title":"Long-term outcomes of ketogenic diet in patients with tuberous sclerosis complex-derived epilepsy","volume":"164","author":"Youn","year":"2020","journal-title":"Epilepsy Res"},{"issue":"10","key":"10.1016\/j.yebeh.2020.107713_b0545","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1111\/epi.13499","article-title":"Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex","volume":"57","author":"Hess","year":"2016","journal-title":"Epilepsia"},{"issue":"21","key":"10.1016\/j.yebeh.2020.107713_b0550","doi-asserted-by":"crossref","first-page":"5422","DOI":"10.1523\/JNEUROSCI.0955-08.2008","article-title":"Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function","volume":"28","author":"Meikle","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.yebeh.2020.107713_b0555","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.jneumeth.2015.04.007","article-title":"Genetic animal models of malformations of cortical development and epilepsy","volume":"260","author":"Wong","year":"2016","journal-title":"J Neurosci Methods"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0560","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/s11910-012-0276-5","article-title":"Mammalian target of rapamycin (mTOR) inhibition: potential for antiseizure, antiepileptogenic, and epileptostatic therapy","volume":"12","author":"Ryther","year":"2012","journal-title":"Curr Neurol Neurosci Rep"},{"issue":"9","key":"10.1016\/j.yebeh.2020.107713_b0565","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0045156","article-title":"The mTOR inhibitor rapamycin has limited acute anticonvulsant effects in mice","volume":"7","author":"Hartman","year":"2012","journal-title":"PLoS ONE"},{"issue":"1\u20132","key":"10.1016\/j.yebeh.2020.107713_b0570","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0006-8993(97)01435-2","article-title":"Single-channel activity of the Ca2+-dependent K+ channel is modulated by FK506 and rapamycin","volume":"786","author":"Terashima","year":"1998","journal-title":"Brain Res"},{"issue":"5796","key":"10.1016\/j.yebeh.2020.107713_b0575","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1126\/science.1131693","article-title":"Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites","volume":"314","author":"Raab-Graham","year":"2006","journal-title":"Science"},{"issue":"1\u20132","key":"10.1016\/j.yebeh.2020.107713_b0580","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.neulet.2006.03.011","article-title":"A role for the mTOR pathway in surface expression of AMPA receptors","volume":"401","author":"Wang","year":"2006","journal-title":"Neurosci Lett"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0585","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ana.21331","article-title":"Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex","volume":"63","author":"Zeng","year":"2008","journal-title":"Ann Neurol"},{"issue":"23","key":"10.1016\/j.yebeh.2020.107713_b0590","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":"10056","key":"10.1016\/j.yebeh.2020.107713_b0595","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","article-title":"Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study","volume":"388","author":"French","year":"2016","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0600","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1212\/CPJ.0000000000000514","article-title":"Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial","volume":"8","author":"Franz","year":"2018","journal-title":"Neurol Clin Pract"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0605","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1111\/epi.14085","article-title":"Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures","volume":"59","author":"Franz","year":"2018","journal-title":"Epilepsia"},{"issue":"7","key":"10.1016\/j.yebeh.2020.107713_b0610","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S2352-4642(18)30099-3","article-title":"Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial","volume":"2","author":"Curatolo","year":"2018","journal-title":"Lancet Child Adolesc Health"},{"issue":"23","key":"10.1016\/j.yebeh.2020.107713_b0615","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1212\/WNL.0000000000003400","article-title":"Long-term treatment of epilepsy with everolimus in tuberous sclerosis","volume":"87","author":"Krueger","year":"2016","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.yebeh.2020.107713_b0620","doi-asserted-by":"crossref","first-page":"e142","DOI":"10.1111\/epi.14529","article-title":"Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study","volume":"59","author":"Samueli","year":"2018","journal-title":"Epilepsia"},{"issue":"10","key":"10.1016\/j.yebeh.2020.107713_b0625","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1212\/WNL.0000000000003077","article-title":"Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial","volume":"87","author":"Overwater","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2020.107713_b0630","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.seizure.2020.03.018","article-title":"Sirolimus improves seizure control in pediatric patients with tuberous sclerosis: A prospective cohort study","volume":"79","author":"He","year":"2020","journal-title":"Seizure"},{"issue":"9861","key":"10.1016\/j.yebeh.2020.107713_b0635","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":"1","key":"10.1016\/j.yebeh.2020.107713_b0640","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13023-019-1077-6","article-title":"Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study","volume":"14","author":"Saffari","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0645","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1016\/j.ejpn.2018.06.007","article-title":"Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience","volume":"22","author":"Krueger","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0650","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0158476","article-title":"Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study","volume":"11","author":"Franz","year":"2016","journal-title":"PLoS ONE"},{"key":"10.1016\/j.yebeh.2020.107713_b0655","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2019.11.017","article-title":"Cannabidiol elevates mechanistic target of rapamycin inhibitor levels in patients with tuberous sclerosis complex","volume":"105","author":"Ebrahimi-Fakhari","year":"2020","journal-title":"Pediatr Neurol"},{"issue":"6","key":"10.1016\/j.yebeh.2020.107713_b0660","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1055\/s-0039-1695786","article-title":"Cannabidiol interacts significantly with everolimus-report of a patient with tuberous sclerosis complex","volume":"50","author":"Wiemer-Kruel","year":"2019","journal-title":"Neuropediatrics"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0665","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s10928-018-9600-2","article-title":"Population pharmacokinetics-pharmacodynamics of oral everolimus in patients with seizures associated with tuberous sclerosis complex","volume":"45","author":"Combes","year":"2018","journal-title":"J Pharmacokinet Pharmacodyn"},{"issue":"7413","key":"10.1016\/j.yebeh.2020.107713_b0670","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/nature11310","article-title":"Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice","volume":"488","author":"Tsai","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.yebeh.2020.107713_b0675","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1038\/ncomms2295","article-title":"Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex","volume":"3","author":"Sato","year":"2012","journal-title":"Nat Commun"},{"issue":"8","key":"10.1016\/j.yebeh.2020.107713_b0680","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/nm1788","article-title":"Reversal of learning deficits in a Tsc2+\/- mouse model of tuberous sclerosis","volume":"14","author":"Ehninger","year":"2008","journal-title":"Nat Med"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0685","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.braindev.2018.07.003","article-title":"Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan","volume":"41","author":"Mizuguchi","year":"2019","journal-title":"Brain Dev"},{"issue":"4","key":"10.1016\/j.yebeh.2020.107713_b0690","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1089\/cap.2016.0100","article-title":"Beneficial effects of everolimus on autism and attention-deficit\/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex","volume":"27","author":"Kilincaslan","year":"2017","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"10.1016\/j.yebeh.2020.107713_b0695","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000007749","article-title":"A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex","author":"Overwater","year":"2019","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0700","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ejpn.2015.12.005","article-title":"Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC","volume":"20","author":"Curatolo","year":"2016","journal-title":"Eur J Paediatr Neurol"},{"issue":"2","key":"10.1016\/j.yebeh.2020.107713_b0705","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1148\/radiol.2322030198","article-title":"Increased brain apparent diffusion coefficient in tuberous sclerosis","volume":"232","author":"Garaci","year":"2004","journal-title":"Radiology"},{"key":"10.1016\/j.yebeh.2020.107713_b0710","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.pediatrneurol.2018.10.005","article-title":"Longitudinal effects of everolimus on white matter diffusion in tuberous sclerosis complex","volume":"90","author":"Peters","year":"2019","journal-title":"Pediatr Neurol"},{"issue":"3","key":"10.1016\/j.yebeh.2020.107713_b0715","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/dmcn.14371","article-title":"Tuberous sclerosis-associated epilepsy and intellectual disability: what role does the mammalian target of rapamycin pathway play?","volume":"62","author":"Curatolo","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.yebeh.2020.107713_b0720","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.002386","article-title":"Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia","author":"Ljungberg","year":"2009","journal-title":"Dis Model Mech"},{"issue":"1","key":"10.1016\/j.yebeh.2020.107713_b0725","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.nbd.2011.08.024","article-title":"Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin","volume":"45","author":"Carson","year":"2012","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.yebeh.2020.107713_b0730","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.nbd.2014.10.004","article-title":"Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice","volume":"73","author":"McMahon","year":"2015","journal-title":"Neurobiol Dis"},{"issue":"7","key":"10.1016\/j.yebeh.2020.107713_b0735","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1111\/epi.13031","article-title":"Intermittent dosing of rapamycin maintains antiepileptogenic effects in a mouse model of tuberous sclerosis complex","volume":"56","author":"Rensing","year":"2015","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.yebeh.2020.107713_b0740","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s00406-016-0703-8","article-title":"mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus","volume":"267","author":"Schneider","year":"2017","journal-title":"Eur Arch Psychiatry Clin Neurosci"}],"container-title":["Epilepsy &amp; Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505020308933?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505020308933?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T18:46:16Z","timestamp":1761504376000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505020308933"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":148,"alternative-id":["S1525505020308933"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2020.107713","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yebeh.2020.107713","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107713"}}