Research & Literature

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Lim JS, Kim WI, Kang HC, et al.

Nature medicine 2015; (21(4)):395-400 doi:10.1038/nm.3824.

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Nakashima M, Saitsu H, Takei N, et al.

Annals of neurology 2015; (78(3)):375-86 doi:10.1002/ana.24444.

The influence of lesion volume, perilesion resection volume, and completeness of resection on seizure outcome after resective epilepsy surgery for cortical dysplasia in children.

Oluigbo CO, Wang J, Whitehead MT, et al.

Journal of neurosurgery. Pediatrics 2015; (15(6)):644-50 doi:10.3171/2014.10.PEDS14282.

Diagnostic methods and treatment options for focal cortical dysplasia.

Guerrini R, Duchowny M, Jayakar P, et al.

Epilepsia 2015; (56(11)):1669-86 doi:10.1111/epi.13200.

Seizure Freedom in Children With Pathology-Confirmed Focal Cortical Dysplasia.

Mrelashvili A, Witte RJ, Wirrell EC, et al.

Pediatric neurology 2015; (53(6)):513-8.

7T MRI in focal epilepsy with unrevealing conventional field strength imaging.

De Ciantis A, Barba C, Tassi L, et al.

Epilepsia 2016; (57(3)):445-54 doi:10.1111/epi.13313.

International recommendation for a comprehensive neuropathologic workup of epilepsy surgery brain tissue: A consensus Task Force report from the ILAE Commission on Diagnostic Methods.

Blümcke I, Aronica E, Miyata H, et al.

Epilepsia 2016; (57(3)):348-58 doi:10.1111/epi.13319.

Intraoperative MRI-guided resection of focal cortical dysplasia in pediatric patients: technique and outcomes.

Sacino MF, Ho CY, Murnick J, et al.

Journal of neurosurgery. Pediatrics 2016; (17(6)):672-8 doi:10.3171/2015.10.PEDS15512.

Treatment of Convulsive Status Epilepticus.

Grover EH, Nazzal Y, Hirsch LJ

Current treatment options in neurology 2016; (18(3)):11 doi:10.1007/s11940-016-0394-5.

3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies.

Granata F, Morabito R, Mormina E, et al.

European journal of radiology 2016; (85(5)):906-14.

Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome.

Kwon HE, Eom S, Kang HC, et al.

Neurology 2016; (87(9)):945-51 doi:10.1212/WNL.0000000000003042.

A longitudinal study of surgical outcome of pharmacoresistant epilepsy caused by focal cortical dysplasia.

Jin B, Wang J, Zhou J, et al.

Journal of neurology 2016; (263(12)):2403-2410 doi:10.1007/s00415-016-8274-1.

Repeat surgery for focal cortical dysplasias in children: indications and outcomes.

Sacino MF, Ho CY, Whitehead MT, et al.

Journal of neurosurgery. Pediatrics 2017; (19(2)):174-181 doi:10.3171/2016.8.PEDS16149.

Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.

Knerlich-Lukoschus F, Connolly MB, Hendson G, et al.

Journal of neurosurgery. Pediatrics 2017; (19(2)):182-195 doi:10.3171/2016.8.PEDS1686.

Multimodal MRI profiling of focal cortical dysplasia type II.

Hong SJ, Bernhardt BC, Caldairou B, et al.

Neurology 2017; (88(8)):734-742 doi:10.1212/WNL.0000000000003632.

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

Lim JS, Gopalappa R, Kim SH, et al.

American journal of human genetics 2017; (100(3)):454-472 doi:10.1016/j.ajhg.2017.01.030.

A distinct clinicopathological variant of focal cortical dysplasia IIId characterized by loss of layer 4 in the occipital lobe in 12 children with remote hypoxic-ischemic injury.

Wang DD, Piao YS, Blumcke I, et al.

Epilepsia 2017; (58(10)):1697-1705 doi:10.1111/epi.13855.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, et al.

Brain : a journal of neurology 2017; (140(10)):2610-2622 doi:10.1093/brain/awx203.

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.

Blumcke I, Spreafico R, Haaker G, et al.

The New England journal of medicine 2017; (377(17)):1648-1656 doi:10.1056/NEJMoa1703784.

Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia.

Choi SA, Kim SY, Kim H, et al.

Epilepsy research 2018; (139()):54-59 doi:10.1016/j.eplepsyres.2017.11.012.

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama AM, Woodworth MB, Hossain AA, et al.

Cell reports 2017; (21(13)):3754-3766 doi:10.1016/j.celrep.2017.11.106.

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Wong-Kisiel LC, Blauwblomme T, Ho ML, et al.

Epilepsy research 2018; (145()):1-17 doi:10.1016/j.eplepsyres.2018.05.006.

Pathophysiology of convulsive status epilepticus.

Sánchez Fernández I, Goodkin HP, Scott RC

Seizure 2019; (68()):16-21 doi:10.1016/j.seizure.2018.08.002.

Neuroradiological findings in patients with "non-lesional" focal epilepsy revealed by research protocol.

Kreilkamp BAK, Das K, Wieshmann UC, et al.

Clinical radiology 2019; (74(1)):78.e1-78.e11 doi:10.1016/j.crad.2018.08.013.

Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors.

Choi SA, Kim SY, Kim WJ, et al.

Journal of clinical neurology (Seoul, Korea) 2019; (15(1)):84-89 doi:10.3988/jcn.2019.15.1.84.

Cognitive functioning after epilepsy surgery in children with mild malformation of cortical development and focal cortical dysplasia.

Veersema TJ, van Schooneveld MMJ, Ferrier CH, et al.

Epilepsy & behavior : E&B 2019; (94()):209-215 doi:10.1016/j.yebeh.2019.03.009.

Focal Cortical Dysplasia and Refractory Epilepsy: Role of Multimodality Imaging and Outcome of Surgery.

Jayalakshmi S, Nanda SK, Vooturi S, et al.

AJNR. American journal of neuroradiology 2019; (40(5)):892-898 doi:10.3174/ajnr.A6041.

Pathological Classification of Focal Cortical Dysplasia (FCD) : Personal Comments for Well Understanding FCD Classification.

Kim SH, Choi J

Journal of Korean Neurosurgical Society 2019; (62(3)):288-295 doi:10.3340/jkns.2019.0025.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S, Ribierre T, Marsan E, et al.

Acta neuropathologica 2019; (138(6)):885-900 doi:10.1007/s00401-019-02061-5.

Surgical strategy for focal cortical dysplasia based on the analysis of the spike onset and peak zones on magnetoencephalography.

Shirozu H, Hashizume A, Masuda H, et al.

Journal of neurosurgery 2020; (133(6)):1850-1862 doi:10.3171/2019.6.JNS191058.

Additional clinical value of voxel-based morphometric MRI post-processing for MRI-negative epilepsies: a prospective study.

El Tahry R, Santos SF, Vrielynck P, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(2)):156-164 doi:10.1684/epd.2020.1152.

Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit.

Fauser S, Cloppenborg T, Polster T, et al.

Epilepsia open 2020; (5(2)):176-189 doi:10.1002/epi4.12385.

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Bonduelle T, Hartlieb T, Baldassari S, et al.

Acta neuropathologica communications 2021; (9(1)):3 doi:10.1186/s40478-020-01085-3.

Ultra-high field magnetic resonance imaging in human epilepsy: A systematic review.

van Lanen RHGJ, Colon AJ, Wiggins CJ, et al.

NeuroImage. Clinical 2021; (30()):102602 doi:10.1016/j.nicl.2021.102602.

Focal cortical dysplasia: an update on diagnosis and treatment.

Guerrini R, Barba C

Expert review of neurotherapeutics 2021; (21(11)):1213-1224 doi:10.1080/14737175.2021.1915135.

7T MRI with post-processing for the presurgical evaluation of pharmacoresistant focal epilepsy.

Chen C, Xie JJ, Ding F, et al.

Therapeutic advances in neurological disorders 2021; (14()):17562864211021181 doi:10.1177/17562864211021181.

Epilepsy in the mTORopathies: opportunities for precision medicine.

Moloney PB, Cavalleri GL, Delanty N

Brain communications 2021; (3(4)):fcab222 doi:10.1093/braincomms/fcab222.

Predictors of postoperative long-term seizure outcome in pediatric patients with focal cortical dysplasia type II at a German tertiary epilepsy center.

Salemdawod A, Wach J, Banat M, et al.

Journal of neurosurgery. Pediatrics 2022; (29(1)):83-91 doi:10.3171/2021.7.PEDS21219.

Children with seizures and radiological diagnosis of focal cortical dysplasia: can drug-resistant epilepsy be predicted earlier?

Zvi IB, Enright N, D'arco F, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(1)):111-122 doi:10.1684/epd.2021.1368.

Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.

Jha R, Kurup A, Kovilapu UB, et al.

Brain & development 2022; (44(2)):166-172 doi:10.1016/j.braindev.2021.10.002.

Seizure Outcome After Surgery for MRI-Diagnosed Focal Cortical Dysplasia: A Systematic Review and Meta-analysis.

Willard A, Antonic-Baker A, Chen Z, et al.

Neurology 2022; (98(3)):e236-e248 doi:10.1212/WNL.0000000000013066.

Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain.

Ko A, Sim NS, Choi HS, et al.

Journal of clinical neurology (Seoul, Korea) 2022; (18(1)):71-78 doi:10.3988/jcn.2022.18.1.71.

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

Lee WS, Baldassari S, Stephenson SEM, et al.

International journal of molecular sciences 2022; (23(3)) doi:10.3390/ijms23031344.

Pre-hospital and emergency department treatment of convulsive status epilepticus in adults: an evidence synthesis.

Cruickshank M, Imamura M, Booth C, et al.

Health technology assessment (Winchester, England) 2022; (26(20)):1-76 doi:10.3310/RSVK2062.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Pirozzi F, Berkseth M, Shear R, et al.

Brain : a journal of neurology 2022; (145(3)):925-938 doi:10.1093/brain/awab376.

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Lai D, Gade M, Yang E, et al.

Brain : a journal of neurology 2022; (145(8)):2704-2720 doi:10.1093/brain/awac117.

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.

Najm I, Lal D, Alonso Vanegas M, et al.

Epilepsia 2022; (63(8)):1899-1919 doi:10.1111/epi.17301.

Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?

Hale AT, Chari A, Scott RC, et al.

Brain : a journal of neurology 2022; (145(11)):3755-3762 doi:10.1093/brain/awac275.

Prevalence and Risk Factors for Pharmacoresistance in Children With Focal Cortical Dysplasia-Related Epilepsy.

Cohen NT, Chang P, You X, et al.

Neurology 2022; (99(18)):e2006-e2013 doi:10.1212/WNL.0000000000201033.

Focal cortical dysplasia pathology: diagnostic difficulty, classification, and utility for pathogenesis.

Kapar O, Gurkan ZM, Dolgun M, et al.

Neurosurgical focus 2022; (53(4)):E6 doi:10.3171/2022.7.FOCUS21731.

Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography.

Dangouloff-Ros V, Fillon L, Eisermann M, et al.

Neurosurgery 2023; (92(4)):820-826 doi:10.1227/neu.0000000000002310.

Focal Cortical Dysplasia with hippocampal sclerosis.

Jadav D, Gupta V, Khera S, Meshram V

Autopsy & case reports 2023; (13()):e2023420 doi:10.4322/acr.2023.420.

Efficacy of vagus nerve stimulation in 95 children of drug-resistant epilepsy with structural etiology.

Xie H, Ma J, Ji T, et al.

Epilepsy & behavior : E&B 2023; (140()):109107 doi:10.1016/j.yebeh.2023.109107.

Neuroimaging in Adults and Children With Epilepsy.

Passaro EA

Continuum (Minneapolis, Minn.) 2023; (29(1)):104-155 doi:10.1212/CON.0000000000001242.

Focal cortical dysplasia: a practical guide for neurologists.

Balestrini S, Barba C, Thom M, Guerrini R

Practical neurology 2023; (23(4)):293-302 doi:10.1136/pn-2022-003404.

Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: Insights into pathophysiology and tissue characterization.

Assis-Mendonça GR, Athié MCP, Tamanini JVG, et al.

Frontiers in neurology 2023; (14()):1023950 doi:10.3389/fneur.2023.1023950.

Creation of a Novel Child Simulator and Curriculum to Optimize Administration of Seizure Rescue Medication.

Stredny CM, Sheehan T, Clark J, et al.

Simulation in healthcare : journal of the Society for Simulation in Healthcare 2024; (19(5)):326-332 doi:10.1097/SIH.0000000000000727.

Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.

Checri R, Chipaux M, Ferrand-Sorbets S, et al.

Brain communications 2023; (5(3)):fcad174 doi:10.1093/braincomms/fcad174.

Focal to bilateral tonic-clonic seizures predict pharmacoresistance in focal cortical dysplasia-related epilepsy.

Chang P, Xie H, Illapani VSP, et al.

Epilepsia 2023; (64(9)):2434-2442 doi:10.1111/epi.17700.

The specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D.

Wang DD, Katoch M, Jabari S, et al.

Acta neuropathologica communications 2023; (11(1)):129 doi:10.1186/s40478-023-01618-6.

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.

Elziny S, Crino PB, Winawer M

Neurobiology of disease 2023; (187()):106299 doi:10.1016/j.nbd.2023.106299.

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Krochmalnek E, Accogli A, St-Onge J, et al.

Neurology. Genetics 2023; (9(6)):e200103 doi:10.1212/NXG.0000000000200103.

The impact of referring patients with drug-resistant focal epilepsy to an epilepsy center for presurgical diagnosis.

Mann L, Rosenow F, Strzelczyk A, et al.

Neurological research and practice 2023; (5(1)):65 doi:10.1186/s42466-023-00288-y.

Analysis of clinical characteristics and histopathological transcription in 40 patients afflicted by epilepsy stemming from focal cortical dysplasia.

Zhang K, Yao H, Yang J, et al.

Epilepsia open 2024; (9(3)):981-995 doi:10.1002/epi4.12928.

Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.

Klein KM, Mascarenhas R, Merrikh D, et al.

Epilepsia 2024; (65(6)):1768-1776 doi:10.1111/epi.17980.

A controversial question: Can morphometry and clinical history be enough to diagnose hippocampal dysplasia?

Arruda IL, Arruda RF, da Silveira RMB, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(3)):382-391 doi:10.1002/epd2.20222.

Responsive neurostimulation of thalamic nuclei for regional and multifocal drug-resistant epilepsy in children and young adults.

Mohanty D, Houck KM, Trandafir C, et al.

Journal of neurosurgery. Pediatrics 2024; (34(1)):40-48 doi:10.3171/2024.2.PEDS23531.

MRI detection of mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) on T1WI-CHESS.

Arizono E, Tanei ZI, Iijima K, et al.

Epilepsy & behavior reports 2024; (26()):100674 doi:10.1016/j.ebr.2024.100674.

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.

Kim J, Park SM, Koh HY, et al.

Brain : a journal of neurology 2024; (147(9)):2983-2990 doi:10.1093/brain/awae190.

Pathophysiological mechanisms underlying the development of focal cortical dysplasia and their association with epilepsy: Experimental models as a research approach.

Kang K, Wu Y, Gan H, et al.

Seizure 2024; (121()):176-185 doi:10.1016/j.seizure.2024.08.013.

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

Sanders MWCB, Koeleman BPC, Brilstra EH, et al.

Epilepsia 2024; (65(12)):e209-e215 doi:10.1111/epi.18148.

A new perspective on drug-resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome.

Splitkova B, Mackova K, Koblizek M, et al.

Epilepsia 2025; (66(3)):632-647 doi:10.1111/epi.18237.

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Coleman M, Wang M, Snell P, et al.

Brain communications 2025; (7(1)):fcaf034 doi:10.1093/braincomms/fcaf034.

Detection of Epileptogenic Focal Cortical Dysplasia Using Graph Neural Networks: A MELD Study.

Ripart M, Spitzer H, Williams LZJ, et al.

JAMA neurology 2025; doi:10.1001/jamaneurol.2024.5406.

A Scoping Review of Responsive Neurostimulation in Focal Cortical Dysplasia-Related Epilepsy.

Chang V, Reeders PC, Blackwood ER, et al.

Epilepsy & behavior : E&B 2025; (166()):110362 doi:10.1016/j.yebeh.2025.110362.

Beamforming of ictal MEG aiding subtle focal cortical dysplasia localization.

Fonseca NCD, Talai A, Veltkamp D, et al.

Epilepsy & behavior reports 2025; (30()):100759 doi:10.1016/j.ebr.2025.100759.

Dysmorphic neurons with ultralow intrinsic excitability are paradoxically hyperexcitable in neural network in a mouse model of focal cortical dysplasia type II.

Wang S, Li K, He Q, et al.

Epilepsia 2025; (66(10)):4006-4022 doi:10.1111/epi.18498.

A comparison between magnetic resonance-guided laser interstitial thermal therapy and resective surgery for drug-resistant epilepsy in patients with MRI-positive focal cortical dysplasia: A systematic review and meta-analysis.

Haro-Perez PS, Saltos-Ponce FA, Del Valle-Lascano CD, et al.

Epilepsy research 2025; (218()):107660 doi:10.1016/j.eplepsyres.2025.107660.

Outcomes of Early-Life Focal Cortical Dysplasia-Related Epilepsy: A PERC Surgery Study.

Cohen NT, Depositario-Cabacar DF, Oluigbo CO, et al.

Neurology. Clinical practice 2025; (15(6)):e200539 doi:10.1212/CPJ.0000000000200539.

The epileptologist's perspective of focal cortical dysplasia type 3: From concept to management.

Palmini A, Oliveira F, Paglioli E, et al.

Epilepsia 2026; (67(3)):1017-1031 doi:10.1111/epi.70023.

MRI techniques for detecting focal cortical dysplasia: A systematic review.

Snell A, Du J, Vegh V, Reutens D

Seizure 2026; (135()):56-72 doi:10.1016/j.seizure.2026.01.003.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Deep characterization of refractory epilepsy due to mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) and insights into the role of invasive monitoring.

Khoury J, Blümcke I, Busch RM, et al.

Epilepsia 2026; (67(5)):2227-2240 doi:10.1002/epi.70118.

Laser interstitial thermal therapy for refractory epilepsy in children under 2 years: A single-center case series and review of the literature.

Ramani PK, El Ghawi O, Beltz B, et al.

Epileptic disorders : international epilepsy journal with videotape 2026; (28(4)):1141-1149 doi:10.1002/epd2.70260.

Comparison of volume- and surface-based magnetic resonance imaging morphometry algorithms in the detection of focal cortical dysplasia.

Bücheler L, Reisert M, Demerath T, et al.

Epilepsia 2026; (67(9)):4662-4674 doi:10.1002/epi.70326.

Characteristics and long-term outcomes of children with confirmed focal cortical dysplasia type 1 after epilepsy surgery: A population-based study.

Zheng V, Koroknay-Pál P, Lehtinen H, et al.

Epilepsia open 2026; (11(4)):1314-1328 doi:10.1002/epi4.70296.

Comparative multicenter evaluation of thalamic neuromodulation for treatment-resistant epilepsy in children.

Tenhoeve SA, Warsi NM, Ludwick AM, et al.

Epilepsia 2026; (67(10)):5201-5214 doi:10.1002/epi.70402.

Invasive Neuromodulation of Drug-Resistant Epilepsy in Pediatric Populations: A Comprehensive Systematic Review and Meta-Analysis.

Zaidan SK, Ghaith HS, Abdelkader K, et al.

Neuromodulation : journal of the International Neuromodulation Society 2026; doi:10.1016/j.neurom.2026.06.477.

Focal Cortical Dysplasia Type II: Somatic Mutations, Molecular Mechanisms, and Integrative Multi-Omics Framework.

Li Z, Wang Y, Shi J, et al.

CNS neuroscience & therapeutics 2026; (32(9)):e71170 doi:10.1002/cns.71170.