{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:05:44Z","timestamp":1790913944045,"version":"4.1.0"},"reference-count":103,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Clifford Family"},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["1161549"],"award-info":[{"award-number":["1161549"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Independent Research Institute Infrastructure Support Scheme"},{"name":"Victorian State Government Operational Infrastructure Program"},{"name":"Melbourne Research Scholarship"},{"name":"Research Training Program Scholarship"},{"name":"MCRI Early Career Research Fellowship"},{"name":"Melbourne Children\u2019s Clinician Scientist Fellowship"},{"name":"Vincent Chiodo Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Bottom-of-sulcus dysplasia (BOSD) is increasingly recognized as a cause of drug-resistant, surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe the clinical manifestations, morphological features, localization patterns and genetics of BOSD, with the aims of improving management and understanding pathogenesis.<\/jats:p>\n                  <jats:p>We studied 85 patients with BOSD diagnosed between 2005\u20132022. Presenting seizure and EEG characteristics, clinical course, genetic findings and treatment response were obtained from medical records. MRI (3 T) and 18F-FDG-PET scans were reviewed systematically for BOSD morphology and metabolism. Histopathological analysis and tissue genetic testing were performed in 64 operated patients. BOSD locations were transposed to common imaging space to study anatomical location, functional network localization and relationship to normal MTOR gene expression.<\/jats:p>\n                  <jats:p>All patients presented with stereotyped focal seizures with rapidly escalating frequency, prompting hospitalization in 48%. Despite 42% patients having seizure remissions, usually with sodium channel blocking medications, most eventually became drug-resistant and underwent surgery (86% seizure-free). Prior developmental delay was uncommon but intellectual, language and executive dysfunction were present in 24%, 48% and 29% when assessed preoperatively, low intellect being associated with greater epilepsy duration.<\/jats:p>\n                  <jats:p>BOSDs were missed on initial MRI in 68%, being ultimately recognized following repeat MRI, 18F-FDG-PET or image postprocessing. MRI features were grey-white junction blurring (100%), cortical thickening (91%), transmantle band (62%), increased cortical T1 signal (46%) and increased subcortical FLAIR signal (26%). BOSD hypometabolism was present on 18F-FDG-PET in 99%. Additional areas of cortical malformation or grey matter heterotopia were present in eight patients. BOSDs predominated in frontal and pericentral cortex and related functional networks, mostly sparing temporal and occipital cortex, and limbic and visual networks.<\/jats:p>\n                  <jats:p>Genetic testing yielded pathogenic mTOR pathway variants in 63% patients, including somatic MTOR variants in 47% operated patients and germline DEPDC5 or NPRL3 variants in 73% patients with familial focal epilepsy. BOSDs tended to occur in regions where the healthy brain normally shows lower MTOR expression, suggesting these regions may be more vulnerable to upregulation of MTOR activity.<\/jats:p>\n                  <jats:p>Consistent with the existing literature, these results highlight (i) clinical features raising suspicion of BOSD; (ii) the role of somatic and germline mTOR pathway variants in patients with sporadic and familial focal epilepsy associated with BOSD; and (iii) the role of 18F-FDG-PET alongside high-field MRI in detecting subtle BOSD. The anatomical and functional distribution of BOSDs likely explain their seizure, EEG and cognitive manifestations and may relate to relative MTOR expression.<\/jats:p>","DOI":"10.1093\/brain\/awad379","type":"journal-article","created":{"date-parts":[[2023,11,4]],"date-time":"2023-11-04T01:28:55Z","timestamp":1699061335000},"page":"1264-1277","source":"Crossref","is-referenced-by-count":35,"title":["The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9894-4610","authenticated-orcid":false,"given":"Emma","family":"Macdonald-Laurs","sequence":"first","affiliation":[{"name":"Department of Neurology, The Royal Children\u2019s Hospital , Parkville, Victoria 3052 \u00a0 Australia"},{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6534-2800","authenticated-orcid":false,"given":"Aaron E L","family":"Warren","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Medicine (Austin Health), The University of Melbourne , Heidelberg 3084 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Francis","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging, The Royal Children\u2019s Hospital , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6287-0819","authenticated-orcid":false,"given":"Simone A","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"},{"name":"Department of Medical Imaging, The Royal Children\u2019s Hospital , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-0258","authenticated-orcid":false,"given":"Wei Shern","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"},{"name":"Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8627-3322","authenticated-orcid":false,"given":"Matthew","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"},{"name":"Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7860-9527","authenticated-orcid":false,"given":"Sarah E M","family":"Stephenson","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"},{"name":"Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7077-0906","authenticated-orcid":false,"given":"Sarah","family":"Barton","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Royal Children\u2019s Hospital , Parkville, Victoria 3052 \u00a0 Australia"},{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6483-3226","authenticated-orcid":false,"given":"Colleen","family":"D\u2019Arcy","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Royal Children\u2019s Hospital , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2531-8413","authenticated-orcid":false,"given":"Paul J","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"},{"name":"Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0362-5607","authenticated-orcid":false,"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Royal Children\u2019s Hospital , Parkville, Victoria 3052 \u00a0 Australia"},{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6388-7444","authenticated-orcid":false,"given":"A Simon","family":"Harvey","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Royal Children\u2019s Hospital , Parkville, Victoria 3052 \u00a0 Australia"},{"name":"Department of Neuroscience, Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"2024042216572125300_awad379-B1","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1111\/epi.17301","article-title":"The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission","volume":"63","author":"Najm","year":"2022","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B2","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1528-1167.2010.02777.x","article-title":"The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission1","volume":"52","author":"Bl\u00fcmcke","year":"2011","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B3","doi-asserted-by":"crossref","first-page":"2874","DOI":"10.1093\/brain\/awaa174","article-title":"Definitions and classification of malformations of cortical development: Practical guidelines","volume":"143","author":"Severino","year":"2020","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s41824-020-00092-w","article-title":"Bottom-of-sulcus dysplasia: The role of 18F-FDG PET in identifying a focal surgically remedial epileptic lesion","volume":"4","author":"Berlangieri","year":"2020","journal-title":"Eur J Hybrid Imaging"},{"key":"2024042216572125300_awad379-B5","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1212\/WNL.0b013e31820203a9","article-title":"FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasias","volume":"75","author":"Chassoux","year":"2010","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B6","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/j.1528-1167.2007.01421.x","article-title":"Defining the spectrum of international practice in pediatric epilepsy surgery patients","volume":"49","author":"Harvey","year":"2008","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B7","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1111\/j.1469-8749.2012.04381.x","article-title":"Seizure outcome after extratemporal epilepsy surgery in childhood","volume":"54","author":"D'Argenzio","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"2024042216572125300_awad379-B8","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1111\/j.1528-1167.2008.01998.x","article-title":"Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: A critical review and the UCLA experience","volume":"50","author":"Lerner","year":"2009","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B9","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1056\/NEJMoa1703784","article-title":"Histopathological findings in brain tissue obtained during epilepsy surgery","volume":"377","author":"Blumcke","year":"2017","journal-title":"N Engl J Med."},{"key":"2024042216572125300_awad379-B10","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jnnp.34.4.369","article-title":"Focal dysplasia of the cerebral cortex in epilepsy","volume":"34","author":"Taylor","year":"1971","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"2024042216572125300_awad379-B11","doi-asserted-by":"crossref","first-page":"e12956","DOI":"10.1111\/bpa.12956","article-title":"Toward a refined genotype-phenotype classification scheme for the international consensus classification of focal cortical dysplasia","volume":"31","author":"Blumcke","year":"2021","journal-title":"Brain Pathol"},{"key":"2024042216572125300_awad379-B12","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":"2024042216572125300_awad379-B13","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"},{"key":"2024042216572125300_awad379-B14","doi-asserted-by":"crossref","first-page":"e2542","DOI":"10.1212\/WNL.0000000000010670","article-title":"Genetic characterization identifies bottom-of-sulcus dyspalsia as an mTORopathy","volume":"95","author":"Lee","year":"2020","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B15","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1212\/WNL.0000000000001594","article-title":"Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR","volume":"84","author":"Leventer","year":"2015","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B16","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1212\/WNL.0000000000003962","article-title":"How small can the epileptogenic region be? A case in point","volume":"88","author":"Jackson","year":"2017","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B17","doi-asserted-by":"crossref","first-page":"3246","DOI":"10.1093\/brain\/awn224","article-title":"Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus","volume":"131","author":"Besson","year":"2008","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B18","doi-asserted-by":"crossref","first-page":"881","DOI":"10.2214\/AJR.10.4423","article-title":"Bottom-of-sulcus dysplasia: Imaging features","volume":"196","author":"Hofman","year":"2011","journal-title":"AJR Am J Roentgenol"},{"key":"2024042216572125300_awad379-B19","doi-asserted-by":"crossref","first-page":"2716","DOI":"10.1111\/epi.17386","article-title":"Why are type II focal cortical dysplasias frequently located at the bottom of sulcus? A neurodevelopmental hypothesis","volume":"63","author":"Studer","year":"2022","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B20","doi-asserted-by":"crossref","first-page":"32868","DOI":"10.1073\/pnas.2016830117","article-title":"A 2020 view of tension-based cortical morphogenesis","volume":"117","author":"Van Essen","year":"2020","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2024042216572125300_awad379-B21","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1212\/01.wnl.0000183747.05269.2d","article-title":"A developmental and genetic classification for malformations of cortical development","volume":"65","author":"Barkovich","year":"2005","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B22","doi-asserted-by":"crossref","first-page":"e178","DOI":"10.1212\/WNL.0000000000012147","article-title":"One-Stage, limited-resection epilepsy surgery for bottom-of-sulcus dysplasia","volume":"97","author":"Macdonald-Laurs","year":"2021","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B23","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1684\/epd.2021.1368","article-title":"Children with seizures and radiological diagnosis of focal cortical dysplasia: Can drug-resistant epilepsy be predicted earlier?","volume":"24","author":"Zvi","year":"2022","journal-title":"Epileptic Disord."},{"key":"2024042216572125300_awad379-B24","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/epi.17495","article-title":"Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II","volume":"64","author":"Macdonald-Laurs","year":"2023","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B25","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.neuroimage.2014.07.061","article-title":"Multi-tissue constrained spherical deconvolution for improved analysis of multi-shell diffusion MRI data","volume":"103","author":"Jeurissen","year":"2014","journal-title":"Neuroimage"},{"key":"2024042216572125300_awad379-B26"},{"key":"2024042216572125300_awad379-B27","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1097\/MNM.0000000000000912","article-title":"Normal brain metabolism on FDG PET\/MRI during childhood and adolescence","volume":"39","author":"Barber","year":"2018","journal-title":"Nucl Med Commun"},{"key":"2024042216572125300_awad379-B28","doi-asserted-by":"crossref","first-page":"116137","DOI":"10.1016\/j.neuroimage.2019.116137","article-title":"MRtrix3: A fast, flexible and open software framework for medical image processing and visualisation","volume":"202","author":"Tournier","year":"2019","journal-title":"Neuroimage"},{"key":"2024042216572125300_awad379-B29","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1006\/nimg.1998.0395","article-title":"Cortical surface-based analysis. I. Segmentation and surface reconstruction","volume":"9","author":"Dale","year":"1999","journal-title":"Neuroimage"},{"key":"2024042216572125300_awad379-B30","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/j.neuroimage.2004.06.018","article-title":"A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: Reliability and validation against manual measurement of total intracranial volume","volume":"23","author":"Buckner","year":"2004","journal-title":"Neuroimage"},{"key":"2024042216572125300_awad379-B31","first-page":"58","volume-title":"Medical image computing and computer-assisted intervention\u2014MICCAI 2006","author":"Grabner","year":"2006"},{"key":"2024042216572125300_awad379-B32","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1152\/jn.00338.2011","article-title":"The organization of the human cerebral cortex estimated by intrinsic functional connectivity","volume":"106","author":"Yeo","year":"2011","journal-title":"J Neurophysiol"},{"key":"2024042216572125300_awad379-B33","doi-asserted-by":"crossref","first-page":"e119","DOI":"10.1093\/brain\/awac320","article-title":"Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II","volume":"145","author":"Lee","year":"2022","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B34","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"2024042216572125300_awad379-B35","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/nature11405","article-title":"An anatomically comprehensive atlas of the adult human brain transcriptome","volume":"489","author":"Hawrylycz","year":"2012","journal-title":"Nature"},{"key":"2024042216572125300_awad379-B36","author":"Science AIfB"},{"key":"2024042216572125300_awad379-B37","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1093\/cercor\/bhx179","article-title":"Local-Global parcellation of the human cerebral Cortex from intrinsic functional connectivity MRI","volume":"28","author":"Schaefer","year":"2018","journal-title":"Cerebral Cortex"},{"key":"2024042216572125300_awad379-B38","doi-asserted-by":"crossref","first-page":"119807","DOI":"10.1016\/j.neuroimage.2022.119807","article-title":"Brainstat: A toolbox for brain-wide statistics and multimodal feature associations","volume":"266","author":"Larivi\u00e8re","year":"2023","journal-title":"NeuroImage"},{"key":"2024042216572125300_awad379-B39","volume-title":"Niedermeyer\u2019s electroencephalography: Basic principles, clinical applications, and related fields","year":"2018","edition":"7th ed"},{"key":"2024042216572125300_awad379-B40","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1148\/radiology.214.3.r00mr40657","article-title":"Cerebrospinal fluid cleft with cortical dimple: MR imaging marker for focal cortical dysgenesis","volume":"214","author":"Bronen","year":"2000","journal-title":"Radiology"},{"key":"2024042216572125300_awad379-B41","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1212\/WNL.0000000000001591","article-title":"The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia","volume":"84","author":"Harvey","year":"2015","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B42","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1212\/WNL.0000000000200345","article-title":"Benefits and risks of epilepsy surgery in patients with focal cortical Dysplasia type 2 in the central region","volume":"99","author":"Chassoux","year":"2022","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B43","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1528-1167.2011.03363.x","article-title":"Type II focal cortical dysplasia: Electroclinical phenotype and surgical outcome related to imaging","volume":"53","author":"Chassoux","year":"2012","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B44","doi-asserted-by":"crossref","first-page":"106598","DOI":"10.1016\/j.eplepsyres.2021.106598","article-title":"Spatiotemporal distribution and age of seizure onset in a pediatric epilepsy surgery cohort with cortical dysplasia","volume":"172","author":"Wiwattanadittakul","year":"2021","journal-title":"Epilepsy Res."},{"key":"2024042216572125300_awad379-B45","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1212\/01.WNL.0000162032.20243.00","article-title":"Adult-onset epilepsy in focal cortical dysplasia of Taylor type","volume":"64","author":"Siegel","year":"2005","journal-title":"Neurology"},{"issue":"(Pt 7","key":"2024042216572125300_awad379-B46","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/brain\/awl133","article-title":"Clinical characteristics in focal cortical dysplasia: A retrospective evaluation in a series of 120 patients","volume":"129","author":"Fauser","year":"2006","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B47","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1007\/s00381-014-2549-6","article-title":"Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages","volume":"30","author":"Holthausen","year":"2014","journal-title":"Childs Nerv Syst."},{"key":"2024042216572125300_awad379-B48","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1111\/epi.16810","article-title":"The severe epilepsy syndromes of infancy: A population-based study","volume":"62","author":"Howell","year":"2021","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B49","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1111\/epi.16907","article-title":"Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort","volume":"62","author":"Mendes Coelho","year":"2021","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B50","doi-asserted-by":"crossref","first-page":"2920","DOI":"10.1111\/epi.17084","article-title":"Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia","volume":"62","author":"Gaballa","year":"2021","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B51","doi-asserted-by":"crossref","first-page":"90","DOI":"10.17116\/neiro20198301190","article-title":"Osobennosti iktal'no\u012d i interiktal'no\u012d \u00e9lektrichesko\u012d aktivnosti v otsenke \u00e9pileptogenno\u012d zony u dete\u012d s fokal'nymi kortikal'nymi displaziiami","volume":"83","author":"Korsakova","year":"2019","journal-title":"Zh Vopr Neirokhir Im N N Burdenko"},{"key":"2024042216572125300_awad379-B52","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3390\/jcm10061219","article-title":"Morphological description of frontal EEG interictal and ictal discharges in an adult cohort of 175 patients","volume":"10","author":"Garc\u00eda-L\u00f3pez","year":"2021","journal-title":"J Clin Med"},{"key":"2024042216572125300_awad379-B53","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/B978-0-12-804281-6.00006-9","article-title":"The anatomy of the human frontal lobe","volume":"163","author":"Catani","year":"2019","journal-title":"Handb Clin Neurol."},{"key":"2024042216572125300_awad379-B54","doi-asserted-by":"crossref","DOI":"10.1177\/17562864211050027","article-title":"Response to antiseizure medications in epileptic patients with malformation of cortical development","volume":"14","author":"Chen","year":"2021","journal-title":"Ther Adv Neurol Disord"},{"key":"2024042216572125300_awad379-B55","doi-asserted-by":"crossref","DOI":"10.1523\/ENEURO.0317-21.2022","article-title":"NPRL2 Inhibition of mTORC1 controls sodium channel expression and brain amino acid homeostasis","volume":"9","author":"Hui","year":"2022","journal-title":"eNeuro"},{"key":"2024042216572125300_awad379-B56","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1097\/WNF.0000000000000304","article-title":"Levetiracetam-Induced seizure aggravation in patients with focal cortical dysplasia","volume":"41","author":"Cvetkovska","year":"2018","journal-title":"Clin Neuropharmacol."},{"key":"2024042216572125300_awad379-B57","doi-asserted-by":"crossref","first-page":"e51440","DOI":"10.7554\/eLife.51440","article-title":"Genetic inactivation of mTORC1 or mTORC2 in neurons reveals distinct functions in glutamatergic synaptic transmission","volume":"9","author":"McCabe","year":"2020","journal-title":"Elife"},{"key":"2024042216572125300_awad379-B58","doi-asserted-by":"crossref","first-page":"11441","DOI":"10.1523\/JNEUROSCI.1283-12.2012","article-title":"Multiple roles for mammalian target of rapamycin signaling in both glutamatergic and GABAergic synaptic transmission","volume":"32","author":"Weston","year":"2012","journal-title":"J Neurosci"},{"key":"2024042216572125300_awad379-B59","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1056\/NEJMoa1615335","article-title":"Surgery for drug-resistant epilepsy in children","volume":"377","author":"Dwivedi","year":"2017","journal-title":"N Engl J Med."},{"key":"2024042216572125300_awad379-B60","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1111\/epi.13961","article-title":"Seizure and cognitive outcomes after resection of glioneuronal tumors in children","volume":"59","author":"Faramand","year":"2018","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B61","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1212\/WNL.0000000000013006","article-title":"Bilateral structural network abnormalities in epilepsy associated with bottom-of-sulcus dysplasia","volume":"98","author":"Mito","year":"2022","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B62","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.seizure.2006.02.012","article-title":"Cognitive effects of seizures","volume":"15","author":"Vingerhoets","year":"2006","journal-title":"Seizure"},{"key":"2024042216572125300_awad379-B63","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1097\/WCO.0000000000000424","article-title":"Preventing cognitive impairment in children with epilepsy","volume":"30","author":"Braun","year":"2017","journal-title":"Curr Opin Neurol"},{"key":"2024042216572125300_awad379-B64","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."},{"key":"2024042216572125300_awad379-B65","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."},{"key":"2024042216572125300_awad379-B66","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/s10038-021-00969-z","article-title":"A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: Additional cases and literature review","volume":"67","author":"Zhang","year":"2022","journal-title":"J Hum Genet."},{"key":"2024042216572125300_awad379-B67","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"},{"key":"2024042216572125300_awad379-B68","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"},{"key":"2024042216572125300_awad379-B69","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1002\/acn3.50815","article-title":"Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA","volume":"6","author":"Lee","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"2024042216572125300_awad379-B70","doi-asserted-by":"crossref","first-page":"106951","DOI":"10.1016\/j.eplepsyres.2022.106951","article-title":"Genomics in the presurgical epilepsy evaluation","volume":"184","author":"Moloney","year":"2022","journal-title":"Epilepsy Res"},{"key":"2024042216572125300_awad379-B71","doi-asserted-by":"crossref","first-page":"e12874","DOI":"10.1111\/nan.12874","article-title":"The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism","volume":"49","author":"Wang","year":"2023","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2024042216572125300_awad379-B72","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":"Suppl 5","key":"2024042216572125300_awad379-B73","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1528-1167.2005.01013.x","article-title":"Are cytomegalic neurons and balloon cells generators of epileptic activity in pediatric cortical dysplasia?","volume":"46","author":"Cepeda","year":"2005","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B74","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/ana.26609","article-title":"Ultra-Low level somatic mutations and structural variations in focal cortical dysplasia type II","volume":"93","author":"Kim","year":"2023","journal-title":"Ann Neurol"},{"key":"2024042216572125300_awad379-B75","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ana.26149","article-title":"Non\u2013cell autonomous epileptogenesis in focal cortical dysplasia","volume":"90","author":"Koh","year":"2021","journal-title":"Ann Neurol."},{"key":"2024042216572125300_awad379-B76","doi-asserted-by":"publisher","author":"Hoffman","DOI":"10.1101\/2023.03.11.532231"},{"key":"2024042216572125300_awad379-B77","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.neuron.2018.05.039","article-title":"Brain somatic mutations in MTOR disrupt neuronal ciliogenesis, leading to focal cortical dyslamination","volume":"99","author":"Park","year":"2018","journal-title":"Neuron"},{"key":"2024042216572125300_awad379-B78","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/35101031","article-title":"Two genetic hits (more or less) to cancer","volume":"1","author":"Knudson","year":"2001","journal-title":"Nat Rev Cancer"},{"key":"2024042216572125300_awad379-B79","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."},{"key":"2024042216572125300_awad379-B80","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1086\/321972","article-title":"Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions","volume":"69","author":"Niida","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2024042216572125300_awad379-B81","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":"2024042216572125300_awad379-B82","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/epi.16481","article-title":"Somatic variants in new candidate genes identified in focal cortical dysplasia type II","volume":"61","author":"Zhang","year":"2020","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B83","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/brain\/awad060","article-title":"Multimodal mapping of regional brain vulnerability to focal cortical dysplasia","volume":"146","author":"Lee","year":"2023","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B84","doi-asserted-by":"crossref","first-page":"295","DOI":"10.3171\/2021.2.PEDS20967","article-title":"Surgical outcomes in children with bottom-of-sulcus dysplasia and drug-resistant epilepsy: A retrospective cohort study","volume":"28","author":"Jain","year":"2021","journal-title":"J Neurosurg Pediatr"},{"key":"2024042216572125300_awad379-B85","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/epi.17130","article-title":"Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study","volume":"63","author":"Wagstyl","year":"2022","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B86","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ana.26442","article-title":"Networks underlie temporal onset of dysplasia-related epilepsy: A MELD study","volume":"92","author":"Cohen","year":"2022","journal-title":"Ann Neurol"},{"key":"2024042216572125300_awad379-B87","doi-asserted-by":"crossref","first-page":"3294","DOI":"10.1093\/brain\/awaa277","article-title":"Genetic, cellular, and connectomic characterization of the brain regions commonly plagued by glioma","volume":"143","author":"Mandal","year":"2020","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B88","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1038\/s41591-018-0172-x","article-title":"BRAF Somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors","volume":"24","author":"Koh","year":"2018","journal-title":"Nat Med."},{"key":"2024042216572125300_awad379-B89","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/nature13185","article-title":"Transcriptional landscape of the prenatal human brain","volume":"508","author":"Miller","year":"2014","journal-title":"Nature"},{"key":"2024042216572125300_awad379-B90","author":"Science AIfB"},{"key":"2024042216572125300_awad379-B91","doi-asserted-by":"crossref","first-page":"100527","DOI":"10.1016\/j.ebr.2022.100527","article-title":"Incidence and prevalence of major epilepsy-associated brain lesions","volume":"18","author":"L\u00f3pez-Rivera","year":"2022","journal-title":"Epilepsy Behav Rep"},{"key":"2024042216572125300_awad379-B92","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1111\/epi.14064","article-title":"Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning","volume":"59","author":"Jin","year":"2018","journal-title":"Epilepsia"},{"key":"2024042216572125300_awad379-B93","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.nicl.2016.12.030","article-title":"Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy","volume":"14","author":"Adler","year":"2017","journal-title":"NeuroImage Clin"},{"key":"2024042216572125300_awad379-B94","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.3389\/fnins.2018.01008","article-title":"Clinical value of machine learning in the automated detection of focal cortical dysplasia using quantitative multimodal surface-based features","volume":"12","author":"Mo","year":"2019","journal-title":"Front Neurosci"},{"key":"2024042216572125300_awad379-B95","doi-asserted-by":"crossref","first-page":"3859","DOI":"10.1093\/brain\/awac224","article-title":"Interpretable surface-based detection of focal cortical dysplasias: A multi-centre epilepsy lesion detection study","volume":"145","author":"Spitzer","year":"2022","journal-title":"Brain"},{"key":"2024042216572125300_awad379-B96","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1212\/WNL.0000000000000543","article-title":"Automated detection of cortical dysplasia type II in MRI-negative epilepsy","volume":"83","author":"Hong","year":"2014","journal-title":"Neurology"},{"key":"2024042216572125300_awad379-B97","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1007\/s00234-012-1049-1","article-title":"Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology","volume":"54","author":"Colombo","year":"2012","journal-title":"Neuroradiology"},{"key":"2024042216572125300_awad379-B98","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/s00401-011-0920-1","article-title":"Neuropathologic measurements in focal cortical dysplasias: Validation of the ILAE 2011 classification system and diagnostic implications for MRI","volume":"123","author":"M\u00fchlebner","year":"2012","journal-title":"Acta Neuropathol"},{"key":"2024042216572125300_awad379-B99","doi-asserted-by":"crossref","first-page":"184","DOI":"10.3174\/ajnr.A5919","article-title":"MRI Abnormalities predominate in the bottom part of the sulcus with type II focal cortical dysplasia: A quantitative study","volume":"40","author":"Liu","year":"2019","journal-title":"AJNR Am J Neuroradiol"},{"key":"2024042216572125300_awad379-B100","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1148\/radiol.14140773","article-title":"The power button sign: A newly described central sulcal pattern on surface rendering MR images of type 2 focal cortical dysplasia","volume":"274","author":"Mellerio","year":"2015","journal-title":"Radiology"},{"key":"2024042216572125300_awad379-B101","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.wneu.2023.01.114","article-title":"Seizure outcome after surgery for refractory epilepsy diagnosed by (18)F-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET\/MRI): A systematic review and meta-analysis","volume":"173","author":"Guo","year":"2023","journal-title":"World Neurosurg"},{"key":"2024042216572125300_awad379-B102","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1007\/s00259-018-3994-3","article-title":"(18)F-FDG PET in drug-resistant epilepsy due to focal cortical dysplasia type 2: Additional value of electroclinical data and coregistration with MRI","volume":"45","author":"Desarnaud","year":"2018","journal-title":"Eur J Nucl Med Mol Imaging"},{"key":"2024042216572125300_awad379-B103","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.neuroimage.2017.10.065","article-title":"Quantitative surface analysis of combined MRI and PET enhances detection of focal cortical dysplasias","volume":"166","author":"Tan","year":"2018","journal-title":"NeuroImage"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awad379\/56928614\/awad379.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/4\/1264\/57302732\/awad379.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/4\/1264\/57302732\/awad379.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T12:58:21Z","timestamp":1713790701000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/147\/4\/1264\/7367884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":103,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,11,6]]},"published-print":{"date-parts":[[2024,4,4]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awad379","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,4]]},"published":{"date-parts":[[2023,11,6]]}}}