{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:26:16Z","timestamp":1792124776281,"version":"4.4.0"},"reference-count":110,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Patients with tuberous sclerosis complex present with cognitive, behavioral, and psychiatric impairments, such as intellectual disabilities, autism spectrum disorders, and drug-resistant epilepsy. It has been shown that these disorders are associated with the presence of cortical tubers. Tuberous sclerosis complex results from inactivating mutations in the TSC1 or TSC2 genes, resulting in hyperactivation of the mTOR signaling pathway, which regulates cell growth, proliferation, survival, and autophagy. TSC1 and TSC2 are classified as tumor suppressor genes and function according to Knudson\u2019s two-hit hypothesis, which requires both alleles to be damaged for tumor formation. However, a second-hit mutation is a rare event in cortical tubers. This suggests that the molecular mechanism of cortical tuber formation may be more complicated and requires further research. This review highlights the issues of molecular genetics and genotype\u2013phenotype correlations, considers histopathological characteristics and the mechanism of morphogenesis of cortical tubers, and also presents data on the relationship between these formations and the development of neurological manifestations, as well as treatment options.<\/jats:p>","DOI":"10.3390\/cimb45050254","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T02:28:02Z","timestamp":1683167282000},"page":"3977-3996","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex"],"prefix":"10.3390","volume":"45","author":[{"given":"Ekaterina","family":"Bychkova","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street 1, 115522 Moscow, Russia"},{"name":"Faculty of Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova Street 1, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Dorofeeva","sequence":"additional","affiliation":[{"name":"Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Taldomskaya 2, 125412 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandr","family":"Levov","sequence":"additional","affiliation":[{"name":"Morozov Children\u2019s City Clinical Hospital, 4th Dobryninsky Lane, 1\/9, 119049 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey","family":"Kislyakov","sequence":"additional","affiliation":[{"name":"Morozov Children\u2019s City Clinical Hospital, 4th Dobryninsky Lane, 1\/9, 119049 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Karandasheva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9283-902X","authenticated-orcid":false,"given":"Vladimir","family":"Strelnikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9631-8782","authenticated-orcid":false,"given":"Kirill","family":"Anoshkin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat. 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