Andrews MG, Subramanian L, Kriegstein AR (2020) mTOR signaling regulates the morphology and migration of outer radial glia in developing human cortex. Elife 9:e58737

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S et al (2019) Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol 138:885–900

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bar-Peled L, Chantranupong L, Cherniack AD, Chen WW, Ottina KA, Grabiner BC, Spear ED, Carter SL, Meyerson M, Sabatini DM (2013) A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 340:1100–1106

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V et al (2015) Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 variants. Ann Neurol 77:675–683. https://doi.org/10.1002/ana.24368

Article  CAS  PubMed  Google Scholar 

Bernasconi A, Cendes F, Theodore WH, Gill RS, Koepp MJ, Hogan RE, Jackson GD, Federico P, Labate A, Vaudano AE et al (2019) Recommendations for the use of structural magnetic resonance imaging in the care of patients with epilepsy: a consensus report from the International League Against Epilepsy Neuroimaging Task Force. Epilepsia 60:1054–1068

Article  PubMed  Google Scholar 

Blumcke I (2019) It is time to move on: commentary to: genotype–phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery. Brain Pathol 29:467–468. https://doi.org/10.1111/bpa.12686

Article  PubMed  PubMed Central  Google Scholar 

Blümcke I, Aronica E, Becker A, Capper D, Coras R, Honavar M, Jacques TS, Kobow K, Miyata H, Mühlebner A et al (2016) Low-grade epilepsy-associated neuroepithelial tumours—the 2016 WHO classification. Nat Rev Neurol 12:732–740. https://doi.org/10.1038/nrneurol.2016.173

Article  PubMed  Google Scholar 

Blumcke I, Aronica E, Miyata H, Sarnat HB, Thom M, Roessler K, Rydenhag B, Jehi L, Krsek P, Wiebe S et al (2016) International recommendation for a comprehensive neuropathologic workup of epilepsy surgery brain tissue: a consensus Task Force report from the ILAE Commission on Diagnostic Methods. Epilepsia 57:348–358. https://doi.org/10.1111/epi.13319

Article  PubMed  Google Scholar 

Blumcke I, Budday S, Poduri A, Lal D, Kobow K, Baulac S (2021) Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol 20:943–955

Article  CAS  PubMed  Google Scholar 

Blumcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS et al (2021) Toward a better definition of focal cortical dysplasia: an iterative histopathological and genetic agreement trial. Epilepsia 62:1416–1428

Article  PubMed  Google Scholar 

Blumcke I, Coras R, Wefers AK, Capper D, Aronica E, Becker A, Honavar M, Stone TJ, Jacques TS, Miyata H et al (2019) Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype-phenotype analysis. Neuropathol Appl Neurobiol 45:95–107. https://doi.org/10.1111/nan.12522

Article  CAS  PubMed  Google Scholar 

Blümcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfafflin M, Elger C, Widman G, Schramm J et al (2017) Histopathological findings in brain tissue obtained during epilepsy surgery. N Engl J Med 377:1648–1656. https://doi.org/10.1056/NEJMoa1703784

Article  PubMed  Google Scholar 

Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G et al (2011) The clinico-pathological spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 52:158–174

Article  PubMed  Google Scholar 

Boonyapisit K, Najm I, Klem G, Ying Z, Burrier C, LaPresto E, Nair D, Bingaman W, Prayson R, Luders H (2003) Epileptogenicity of focal malformations due to abnormal cortical development: direct electrocorticographic-histopathologic correlations. Epilepsia 44:69–76

Article  Google Scholar 

Cepeda C, Hurst RS, Flores-Hernandez J, Hernandez-Echeagaray E, Klapstein GJ, Boylan MK, Calvert CR, Jocoy EL, Nguyen OK, Andre VM et al (2003) Morphological and electrophysiological characterization of abnormal cell types in pediatric cortical dysplasia. J Neurosci Res 72:472–486

Article  CAS  PubMed  Google Scholar 

Chamberlain WA, Cohen ML, Gyure KA, Kleinschmidt-DeMasters BK, Perry A, Powell SZ, Qian J, Staugaitis SM, Prayson RA (2009) Interobserver and intraobserver reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia 50:2593–2598

Article  PubMed  Google Scholar 

Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW et al (2023) Comprehensive multi-omic profiling of somatic variants in malformations of cortical development. Nat Genet 55:209–220

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coras R, de Boer OJ, Armstrong D, Becker A, Jacques TS, Miyata H, Thom M, Vinters HV, Spreafico R, Oz B et al (2012) Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias. Epilepsia 53:1341–1348

Article  PubMed  Google Scholar 

Crino PB (2016) The mTOR signalling cascade: paving new roads to cure neurological disease. Nat Rev Neurol 12:379–392. https://doi.org/10.1038/nrneurol.2016.81

Article  CAS  PubMed  Google Scholar 

D’Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ et al (2015) Mammalian target of rapamycin pathway variants cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 77:720–725

Article  CAS  PubMed  PubMed Central  Google Scholar 

D’Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ et al (2017) Somatic variants activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias. Cell Rep 21:3754–3766. https://doi.org/10.1016/j.celrep.2017.11.106

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM et al (2013) Variants in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 45:546–551. https://doi.org/10.1038/ng.2599

Article  CAS  PubMed  Google Scholar 

Engel JJ, Van Ness P, Rasmussen TB, Ojemann LM (1993) Outcome with respect to epileptic seizures. In: Engel JJ (ed) Surgical treatment of the epilepsies. Raven, New York, pp 609–621

Google Scholar 

Gerasimenko A, Baldassari S, Baulac S (2023) mTOR pathway: insights into an established pathway for brain mosaicism in epilepsy. Neurobiol Dis 182:106144

Article  CAS  PubMed  Google Scholar 

Hui KK, Tanaka M (2019) Autophagy links MTOR and GABA signaling in the brain. Autophagy 15:1848–1849. https://doi.org/10.1080/15548627.2019.1637643

Article  PubMed  PubMed Central  Google Scholar 

Iffland PH 2nd, Carson V, Bordey A, Crino PB (2019) GATORopathies: the role of amino acid regulatory gene variants in epilepsy and cortical malformations. Epilepsia 60:2163–2173

Article  CAS  PubMed  PubMed Central  Google Scholar 

Iffland PH 2nd, Crino PB (2017) Focal cortical dysplasia: gene variants, cell signaling, and therapeutic implications. Annu Rev Pathol 12:547–571

Article  CAS  PubMed  Google Scholar 

Inoki K, Zhu T, Guan KL (2003) TSC2 mediates cellular energy response to control cell growth and survival. Cell 115:577–590. https://doi.org/10.1016/s0092-8674(03)00929-2

Article  CAS  PubMed  Google Scholar 

Jehi L, Braun K (2021) Does etiology really matter for epilepsy surgery outcome? Brain Pathol 31:e12965. https://doi.org/10.1111/bpa.12965

Article  PubMed  PubMed Central  Google Scholar 

Jung CH, Ro SH, Cao J, Otto NM, Kim DH (2010) mTOR regulation of autophagy. FEBS Lett 584:1287–1295. https://doi.org/10.1016/j.febslet.2010.01.017

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kassai H, Sugaya Y, Noda S, Nakao K, Maeda T, Kano M, Aiba A (2014) Selective activation of mTORC1 signaling recapitulates microcephaly, tuberous sclerosis, and neurodegenerative diseases. Cell Rep 7:1626–1639. https://doi.org/10.1016/j.celrep.2014.04.048

Article  CAS  PubMed  Google Scholar 

Kim DH, Sarbassov DD, Ali SM, King JE, Latek RR, Erdjument-Bromage H, Tempst P, Sabatini DM (2002) mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery. Cell 110:163–175. https://doi.org/10.1016/s0092-8674(02)00808-5

Article  CAS  PubMed  Google Scholar 

Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA et al (2022) Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain 145:2704–2720. https://doi.org/10.1093/brain/awac117

Article  PubMed  PubMed Central