{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T13:24:17Z","timestamp":1793021057977,"version":"4.5.0"},"reference-count":225,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2023,2,20]],"date-time":"2023-02-20T00:00:00Z","timestamp":1676851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"EpilepsieNL","award":["2020-02"],"award-info":[{"award-number":["2020-02"]}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and pathophysiologic mechanisms, including mammalian target of rapamycin (mTOR) dysregulation, GABAergic dysfunction and abnormal connectivity, may play a role in this epileptogenic process and may also contribute to the associated developmental encephalopathy. Disease-specific antiseizure medications or drugs targeting the mTOR pathway have proved to be effective in TSC-associated epilepsy. Pre-symptomatic administration of vigabatrin, a GABAergic drug, delays seizure onset and reduces the risk of a subsequent epileptic encephalopathy, such as infantile spasms syndrome or Lennox\u2013Gastaut syndrome. Everolimus, a rapamycin-derived mTOR inhibitor, reduces seizure frequency, especially in younger patients. This evidence suggests that everolimus should be considered early in the course of epilepsy.<\/jats:p>\n                  <jats:p>Future trials are needed to optimize the use of everolimus and determine whether earlier correction of mTOR dysregulation can prevent progression to developmental and epileptic encephalopathies or mitigate their severity in infants with TSC. Clinical trials of several other potential antiseizure drugs (cannabidiol and ganaxolone) that target contributing mechanisms are also underway.<\/jats:p>\n                  <jats:p>This review provides an overview of the different biological mechanisms occurring in parallel and interacting throughout the life course, even beyond the epileptogenic process, in individuals with TSC. These complexities highlight the challenges faced in preventing and treating TSC-related developmental and epileptic encephalopathy.<\/jats:p>","DOI":"10.1093\/brain\/awad048","type":"journal-article","created":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T17:24:38Z","timestamp":1676568278000},"page":"2694-2710","source":"Crossref","is-referenced-by-count":73,"title":["Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy"],"prefix":"10.1093","volume":"146","author":[{"given":"Eleonora","family":"Aronica","sequence":"first","affiliation":[{"name":"Department of Neuropathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam , Amsterdam 1105 AZ , The Netherlands"},{"name":"Stichting Epilepsie Instellingen Nederland (SEIN) , Heemstede 1105 AZ , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8120-0287","authenticated-orcid":false,"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Full Member of European Reference Network EpiCARE, Clinical and Experimental Neurology, Bambino Ges\u00f9 Children's Hospital, IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J","family":"Luinenburg","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam , Amsterdam 1105 AZ , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Curatolo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University , Rome 00133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,2,20]]},"reference":[{"key":"2023070312505270800_awad048-B1","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE Classification of the epilepsies: Position paper of the ILAE commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"2023070312505270800_awad048-B2","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ejpn.2019.12.023","article-title":"Deciphering the concepts behind \u201cepileptic encephalopathy\u201d and \u201cdevelopmental and epileptic encephalopathy\u201d","volume":"24","author":"Scheffer","year":"2020","journal-title":"Eur J Paediatr Neurol"},{"key":"2023070312505270800_awad048-B3","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1111\/epi.17241","article-title":"International league against epilepsy 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