Precise detection of low-level somatic mutation in resected epilepsy brain tissue
Open accessAbstract
Low-level somatic mutations have been shown to be the major genetic etiology of intractable epilepsy. The extents thereof, however, have yet to be systematically and accurately explored in a large cohort of resected epilepsy brain tissues. Moreover, clinically useful and precise analysis tools for detecting low-level somatic mutations from unmatched formalin-fixed paraffin-embedded (FFPE) brain samples, the most clinically relevant samples, are still lacking. In total, 446 tissues samples from 232 intractable epilepsy patients with various brain pathologies were analyzed using deep sequencing (average read depth, 1112x) of known epilepsy-related genes (up to 28 genes) followed by confirmatory site-specific amplicon sequencing. Pathogenic mutations were discovered in 31.9% (74 of 232) of the resected epilepsy brain tissues and were recurrently found in only eight major focal epilepsy genes, including AKT3, DEPDC5, MTOR, PIK3CA, TSC1, TSC2, SCL35A2, and BRAF. Somatic mutations, two-hit mutations, and germline mutations accounted for 22.0% (51), 0.9% (2), and 9.1% (21) of the patients with intractable epilepsy, respectively. The majority of pathogenic somatic mutations (62.3%, 33 of 53) had a low variant allelic frequency of less than 5%. The use of deep sequencing replicates in the eight major focal epilepsy genes robustly increased PPVs to 50-100% and sensitivities to 71-100%. In an independent FCDII cohort of only unmatched FFPE brain tissues, deep sequencing replicates in the eight major focal epilepsy genes identified pathogenic somatic mutations in 33.3% (5 of 15) of FCDII individuals (similar to the genetic detecting rate in the entire FCDII cohort) without any false-positive calls. Deep sequencing replicates of major focal epilepsy genes in unmatched FFPE brain tissues can be used to accurately and efficiently detect low-level somatic mutations, thereby improving overall patient care by enriching genetic counseling and informing treatment decisions.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Somatic mutations in mTOR pathway regulators are often found in focal cortical dysplasia type II.
“In addition, somatic mutations in mTOR pathway regulators are often found in focal cortical dysplasia type II, which has overlapping histological and clinical features with TSC24,25.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [24]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Cingolani, P., Platts, A., Wang, L. L., Coon, M., Nguyen, T., Wang, L., Land, S. J., Lu, X., & Ruden, D. M. (2012) · Fly · doi:10.4161/fly.19695 · Cited by 11,816 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
The cancer genome atlas pan-cancer analysis project
The Cancer Genome Atlas Research Network, Weinstein, J. N., Collisson, E. A., Mills, G. B., Shaw, K. R. M., Ozenberger, B. A., Ellrott, K., Shmulevich, I., Sander, C., & Stuart, J. M. (2013) · Nature Genetics · doi:10.1038/ng.2764 · Cited by 9,092 · see citing works
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049 · see citing works
Early Identification of Refractory Epilepsy
Kwan, P., & Brodie, M. J. (2000) · New England Journal of Medicine · doi:10.1056/nejm200002033420503 · Cited by 5,204 · see citing works
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, K., Lawrence, M. S., Carter, S. L., Sivachenko, A., Jaffe, D. B., Sougnez, C. L., Gabriel, S., Meyerson, M. M., Lander, E. S., & Getz, G. A. (2013) · Nature Biotechnology · doi:10.1038/nbt.2514 · Cited by 4,838 · see citing works
Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
Saunders, C. T., Wong, W. S. W., Swamy, S., Becq, J., Murray, L. J., & Cheetham, R. K. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts271 · Cited by 1,589 · see citing works
Wilm, A., Aw, P. P. K., Bertrand, D., Yeo, G. H. T., Ong, S. H., Wong, C. H., Khor, C. C., Petric, R., Hibberd, M. L., & Nagarajan, N. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks918 · Cited by 1,338 · see citing works
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C. G., Pfäfflin, M., Elger, C. E., Widman, G., Schramm, J., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1703784 · Cited by 935 · see citing works
Self-citationDe novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703 · see citing works
Self-citationLim, J. S., Kim, W.-I., Kang, H., Kim, S. H., Park, A. H., Park, E. K., Cho, Y., Kim, H. M., Kim, J. A., Kim, J. A., et al. (2015) · Nature Medicine · doi:10.1038/nm.3824 · Cited by 524 · see citing works
Self-citationSomatic activation of AKT3 causes hemispheric developmental brain malformations
Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.010 · Cited by 478 · see citing works
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
Green, A., Smith, M., & Yates, J. R. W. (1994) · Nature Genetics · doi:10.1038/ng0294-193 · Cited by 367 · see citing works
Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O'Roak, B. J., Hiatt, J. B., Roden, W. H., Gunter, S. A., Christian, S. L., Collins, S., Adams, C., et al. (2015) · Brain · doi:10.1093/brain/awv045 · Cited by 364 · see citing works
D’Gama, A. M., Woodworth, M. B., Hossain, A. A., Bizzotto, S., Hatem, N. E., LaCoursiere, C. M., Najm, I., Ying, Z., Yang, E., Barkovich, A. J., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.106 · Cited by 330 · see citing works
D’Gama, A. M., Geng, Y., Couto, J. A., Martin, B., Boyle, E. A., LaCoursiere, C. M., Hossain, A. A., Hatem, N. E., Barry, B. J., Kwiatkowski, D. J., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24357 · Cited by 290 · see citing works
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
Baulac, S., Ishida, S., Marsan, E., Miquel, C., Biraben, A., Nguyen, D., Nordli, D., Cossette, P., Nguyen, S., Lambrecq, V., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24368 · Cited by 279 · see citing works
Ribierre, T., Deleuze, C., Bacq, A., Baldassari, S., Marsan, E., Chipaux, M., Muraca, G., Roussel, D., Navarro, V., Leguern, E., et al. (2018) · Journal of Clinical Investigation · doi:10.1172/jci99384 · Cited by 241 · see citing works
Scheffer, I., Heron, S., Regan, B. M., Mandelstam, S., Crompton, D., Hodgson, B., Licchetta, L., Provini, F., Bisulli, F., Vadlamudi, L., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24126 · Cited by 228 · see citing works
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Allen, A. S., Bellows, S. T., Berkovic, S. F., Bridgers, J., Burgess, R., Cavalleri, G. L., Chung, S., Cossette, P., Delanty, N., Dlugos, D., et al. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30359-3 · Cited by 222 · see citing works
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Lim, J. S., Gopalappa, R., Kim, S. H., Ramakrishna, S., Lee, M., Kim, J., Kim, J., Park, S. M., Lee, J., Oh, J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.030 · Cited by 208 · see citing works
Self-citationNiida, Y., Stemmer-Rachamimov, A. O., Logrip, M. L., Tapon, D., Perez, R., Kwiatkowski, D. J., Sims, K. B., MacCollin, M., Louis, D. N., & Ramesh, V. (2001) · The American Journal of Human Genetics · doi:10.1086/321972 · Cited by 205 · see citing works
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
Nakashima, M., Saitsu, H., Takei, N., Tohyama, J., Kato, M., Kitaura, H., Shiina, M., Shirozu, H., Masuda, H., Watanabe, K., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24444 · Cited by 184 · see citing works
Kerick, M., Isau, M., Timmermann, B., Sültmann, H., Herwig, R., Krobitsch, S., Schaefer, G., Verdorfer, I., Bartsch, G. H., Klocker, H., et al. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-68 · Cited by 181 · see citing works
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
Weckhuysen, S., Marsan, E., Lambrecq, V., Marchal, C., Morin‐Brureau, M., An-Gourfinkel, I., Baulac, M., Fohlen, M., Zetchi, C. K., Seeck, M., et al. (2016) · Epilepsia · doi:10.1111/epi.13391 · Cited by 181 · see citing works
Krøigård, A. B., Thomassen, M., Lænkholm, A., Kruse, T. A., & Larsen, M. J. (2016) · PLoS ONE · doi:10.1371/journal.pone.0151664 · Cited by 177 · see citing works
Miller-Delaney, S. F. C., Bryan, K. R., Das, S., McKiernan, R. C., Bray, I. M., Reynolds, J. R., Gwinn, R. P., Stallings, R. L., & Henshall, D. C. (2014) · Brain · doi:10.1093/brain/awu373 · Cited by 173 · see citing works
Blümcke, I., Aronica, E., Miyata, H., Sarnat, H. B., Thom, M., Rössler, K., Rydenhag, B., Jehi, L. E., Kršek, P., Wiebe, S., et al. (2016) · Epilepsia · doi:10.1111/epi.13319 · Cited by 147 · see citing works
Self-citationBRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors
Koh, H. Y., Kim, S. H., Jang, J., Kim, H., Han, S., Lim, J. S., Son, G., Choi, J., Park, B. O., Heo, W. D., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0172-x · Cited by 138 · see citing works
Self-citationEarly-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy
Beal, J. C., Cherian, K. A., & Moshé, S. L. (2012) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2012.06.002 · Cited by 135 · see citing works
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Winawer, M. R., Griffin, N. G., Samanamud, J. L., Baugh, E. H., Rathakrishnan, D., Ramalingam, S., Zagzag, D., Schevon, C. A., Dugan, P. C., Hegde, M., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25243 · Cited by 134 · see citing works
Kim, Y. H., Kang, H., Kim, D., Kim, S. H., Shim, K., Kim, H. D., & Lee, J. S. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2010.02950.x · Cited by 116 · see citing works
Self-citationElevation of plasma tRNA fragments precedes seizures in human epilepsy
Hogg, M. C., Raoof, R. M., Naggar, H. E., Monsefi, N., Delanty, N., O’Brien, D. F., Bauer, S., Rosenow, F., Henshall, D. C., & Prehn, J. H. M. (2019) · Journal of Clinical Investigation · doi:10.1172/jci126346 · Cited by 105 · see citing works
Hoogeveen‐Westerveld, M., Wentink, M. W. J., van den Heuvel, D., Mozaffari, M., Ekong, R., Povey, S., den Dunnen, J. T., Metcalfe, K., Vallee, S. E., Krueger, S., et al. (2011) · Human Mutation · doi:10.1002/humu.21451 · Cited by 91 · see citing works
Kim, J., Kim, D., Lim, J. S., Maeng, J. H., Son, H., Kang, H., Nam, H., Lee, J. H., & Kim, S. (2019) · Nature Communications · doi:10.1038/s41467-019-09026-y · Cited by 81 · see citing works
Self-citationBrain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
Sim, N. S., Seo, Y., Lim, J. S., Kim, W. K., Son, H., Kim, H. D., Kim, S., An, H. J., Kang, H., Kim, S. H., et al. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000294 · Cited by 79 · see citing works
Self-citationIntragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu - Alu recombination
Mefford, H. C., Zemel, M., Geraghty, E., Cook, J., Clayton, P. T., Paul, K., Plecko, B., Mills, P. B., Nordli, D. R., & Gospe, S. M. (2015) · Neurology · doi:10.1212/wnl.0000000000001883 · Cited by 35 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Najm, I., Lal, D., Alonso‐Vanegas, M., Cendes, F., Lopes‐Cendes, Í., Palmini, A., Paglioli, E., Sarnat, H. B., Walsh, C. A., Wiebe, S., et al. (2022) · Epilepsia · doi:10.1111/epi.17301 · Cited by 368 · see citing works
Self-citationPerucca, P., Bahlo, M., & Berkovic, S. F. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120219-074937 · Cited by 235 · see citing works
Oegema, R., Barakat, T. S., Wilke, M., Stouffs, K., Amrom, D., Aronica, E., Bahi‐Buisson, N., Conti, V., Fry, A. E., Geis, T., et al. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0395-6 · Cited by 146 · see citing works
Self-citationEpilepsy in the mTORopathies: opportunities for precision medicine
Moloney, P. B., Cavalleri, G. L., & Delanty, N. (2021) · Brain Communications · doi:10.1093/braincomms/fcab222 · Cited by 126 · see citing works
Bonduelle, T., Hartlieb, T., Baldassari, S., Sim, N. S., Kim, S. H., Kang, H., Kobow, K., Coras, R., Chipaux, M., Dorfmüller, G., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-01085-3 · Cited by 123 · see citing works
Self-citationComprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Chung, C., Yang, X., Bae, T., Vong, K. I., Mittal, S., Donkels, C., Phillips, H. W., Li, Z., Marsh, A. P. L., Breuss, M. W., et al. (2023) · Nature Genetics · doi:10.1038/s41588-022-01276-9 · Cited by 107 · see citing works
Self-citationImpact of predictive, preventive and precision medicine strategies in epilepsy
Nabbout, R., & Kuchenbuch, M. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0409-4 · Cited by 101 · see citing works
Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours.
Blümcke, I., Budday, S., Poduri, A., Lal, D., Kobow, K., & Baulac, S. (2021) · Lancet Neurology · doi:10.1016/s1474-4422(21)00265-9 · Cited by 83 · see citing works
Blümcke, I., Coras, R., Busch, R. M., Morita, M. E., Lal, D., Prayson, R. A., Cendes, F., Lopes‐Cendes, Í., Rogério, F., de Almeida, V. S., et al. (2021) · Epilepsia · doi:10.1111/epi.16899 · Cited by 96 · see citing works
Self-citationmTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
Gerasimenko, A., Baldassari, S., & Baulac, S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106144 · Cited by 76 · see citing works
Dendritic pathology, spine loss and synaptic reorganization in human cortex from epilepsy patients
Rossini, L., Santis, D. D., Mauceri, R., Tesoriero, C., Bentivoglio, M., Maderna, E., Maiorana, A., Deleo, F., de Curtis, M., Tringali, G., et al. (2020) · Brain · doi:10.1093/brain/awaa387 · Cited by 84 · see citing works
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Lai, D., Gade, M., Yang, E., Koh, H. Y., Lü, J., Walley, N. M., Buckley, A. F., Sands, T. T., Akman, Ç. I., Mikati, M. A., et al. (2022) · Brain · doi:10.1093/brain/awac117 · Cited by 84 · see citing works
Self-citationCerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications · doi:10.1093/braincomms/fcaa235 · Cited by 77 · see citing works
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
López-Rivera, J. A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez‐Palma, E., Hamer, H. M., et al. (2022) · Brain · doi:10.1093/brain/awac376 · Cited by 74 · see citing works
Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies
Nguyen, L. H., & Bordey, A. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.664695 · Cited by 72 · see citing works
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
Kim, S., Baldassari, S., Sim, N. S., Chipaux, M., Dorfmüller, G., Kim, D. S., Chang, W. S., Taly, V., Lee, J. H., & Baulac, S. (2021) · Annals of Neurology · doi:10.1002/ana.26080 · Cited by 59 · see citing works
Self-citationBarba, C., Blümcke, I., Winawer, M. R., Hartlieb, T., Kang, H., Grisotto, L., Chipaux, M., Bien, C. G., Splítková, B., Porter, B. E., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201471 · Cited by 59 · see citing works
Self-citationDEPDC5-related epilepsy: A comprehensive review.
Samanta, D. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108678 · Cited by 52 · see citing works
Ribierre, T., Bacq, A., Donneger, F., Doladilhe, M., Maletic, M., Roussel, D., Roux, I. L., Chassoux, F., Devaux, B. C., Adle‐Biassette, H., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01634-2 · Cited by 62 · see citing works
Non–Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia
Koh, H. Y., Jang, J., Ju, S. H., Kim, R., Cho, G., Kim, D. S., Sohn, J., Paik, S., & Lee, J. H. (2021) · Annals of Neurology · doi:10.1002/ana.26149 · Cited by 51 · see citing works
Self-citationMan, A., Scipio, M. D., Grewal, S., Suk, Y., Trinari, E., Ejaz, R., & Whitney, R. (2024) · Genes · doi:10.3390/genes15030332 · Cited by 50 · see citing works
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia
Baldassari, S., Klingler, E., Teijeiro, L. G., Doladilhe, M., Raoux, C., Roig‐Puiggros, S., Bizzotto, S., Couturier, J., Gilbert, A., Sami, L., et al. (2025) · Nature Neuroscience · doi:10.1038/s41593-025-01936-z · Cited by 51 · see citing works
Self-citationZimmer, T. S., Broekaart, D. W. M., Gruber, V.-E., van Vliet, E. A., Mühlebner, A., & Aronica, E. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.01028 · Cited by 48 · see citing works
Self-citationPérez‐Rodríguez, D., Kalyva, M., Leija‐Salazar, M., Lashley, T., Tarabichi, M., Chelban, V., Gentleman, S., Schottlaender, L., Franklin, H., Vasmatzis, G., et al. (2019) · Acta Neuropathologica Communications · doi:10.1186/s40478-019-0873-5 · Cited by 50 · see citing works
Lee, W. S., Baldassari, S., Stephenson, S. E. M., Lockhart, P. J., Baulac, S., & Leventer, R. J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031344 · Cited by 45 · see citing works
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review
Jesus‐Ribeiro, J., Pires, L. M., Melo, J. D., Ribeiro, I. P., Rebelo, O., Sales, F., Freire, A., & Melo, J. B. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.580357 · Cited by 43 · see citing works
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
Lee, W., Stephenson, S. E. M., Pope, K., Gillies, G., Maixner, W., Macdonald-Laurs, E., MacGregor, D., D'Arcy, C., Jackson, G., Harvey, A., et al. (2020) · Neurology · doi:10.1212/wnl.0000000000010670 · Cited by 31 · see citing works
Identification of gene regulatory networks affected across drug-resistant epilepsies
François, L., Romagnolo, A., Luinenburg, M. J., Anink, J. J., Godard, P., Rajman, M., van Eyll, J. M., Mühlebner, A., Skelton, A. J., Mills, J. D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46592-2 · Cited by 40 · see citing works
Self-citationBalloon cells promote immune system activation in focal cortical dysplasia type 2b
Zimmer, T. S., Broekaart, D. W. M., Luinenburg, M. J., Mijnsbergen, C., Anink, J. J., Sim, N. S., Michailidou, I., Jansen, F. E., van Rijen, P. C., Lee, J. H., et al. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12736 · Cited by 40 · see citing works
Self-citationDetection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
Checri, R., Chipaux, M., Ferrand‐Sorbets, S., Raffo, E., Bulteau, C., Rosenberg, S. D., Doladilhe, M., Dorfmüller, G., Adle‐Biassette, H., Baldassari, S., et al. (2023) · Brain Communications · doi:10.1093/braincomms/fcad174 · Cited by 38 · see citing works
Goz, R. U., Akgül, G., & LoTurco, J. J. (2020) · Journal of Neurophysiology · doi:10.1152/jn.00523.2019 · Cited by 35 · see citing works
Blümcke, I., Cendes, F., Miyata, H., Thom, M., Aronica, E., & Najm, I. (2021) · Brain Pathology · doi:10.1111/bpa.12956 · Cited by 37 · see citing works
Self-citationCardiac Investigations in Sudden Unexpected Death in DEPDC5 ‐Related Epilepsy
Bacq, A., Roussel, D., Bonduelle, T., Zagaglia, S., Maletić, M. M., Ribierre, T., Adle-Biassette, H., Marchal, C., Jennesson, M., An, I., et al. (2021) · Annals of Neurology · doi:10.1002/ana.26256 · Cited by 27 · see citing works
Genomics in the presurgical epilepsy evaluation
Moloney, P. B., Dugan, P. C., Widdess‐Walsh, P., Devinsky, O., & Delanty, N. (2022) · Epilepsy Research · doi:10.1016/j.eplepsyres.2022.106951 · Cited by 35 · see citing works
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
Garcia, C. A. B., Carvalho, S. C. S., Yang, X., Ball, L., George, R. D., James, K. N., Stanley, V., Breuss, M. W., Thomé, Ú., Santos, M. V., et al. (2020) · Epilepsia Open · doi:10.1002/epi4.12377 · Cited by 33 · see citing works
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
Kim, J. H., Park, J., Lee, J., Park, J. W., Kim, H. J., Chang, W. S., Kim, D., Ju, Y. S., Aronica, E., & Lee, J. H. (2023) · Annals of Neurology · doi:10.1002/ana.26609 · Cited by 33 · see citing works
Self-citationThe clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
Macdonald‐Laurs, E., Warren, A. E. L., Francis, P. S. J., Mandelstam, S. A., Lee, W. S., Coleman, M., Stephenson, S. E. M., Barton, S., D’Arcy, C. E., Lockhart, P. J., et al. (2023) · Brain · doi:10.1093/brain/awad379 · Cited by 31 · see citing works
Holthausen, H., Coras, R., Tang, Y., Bai, L., Wang, Z. I., Pieper, T., Kudernatsch, M., Hartlieb, T., Staudt, M., Winkler, P., et al. (2021) · Epilepsia · doi:10.1111/epi.17114 · Cited by 32 · see citing works
Donkels, C., Peters, M., Núñez, M. T. F., Nakagawa, J. M., Kirsch, M., Vlachos, A., Scheiwe, C. F., Schulze‐Bonhage, A., Prinz, M., Beck, J., et al. (2019) · Epilepsia · doi:10.1111/epi.16415 · Cited by 30 · see citing works
The role of somatic mosaicism in brain disease
Jourdon, A., Fasching, L., Scuderi, S., Abyzov, A. S., & Vaccarino, F. M. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.002 · Cited by 29 · see citing works
Everolimus precision therapy for the GATOR1 ‐related epilepsies: A case series
Moloney, P. B., KEARNEY, H. F., Benson, K. A., Costello, D. J., Cavalleri, G. L., Gorman, K. M., Lynch, B. J., & Delanty, N. (2023) · European Journal of Neurology · doi:10.1111/ene.15975 · Cited by 29 · see citing works
Somatic variants in new candidate genes identified in focal cortical dysplasia type II
Zhang, Z., Gao, K., Liu, Q., Zhou, J., Li, X., Lang, N., Liu, M., Wang, T., Zhang, J., Wang, H., et al. (2020) · Epilepsia · doi:10.1111/epi.16481 · Cited by 29 · see citing works
Park, H. J., Shin, C. H., Yoo, W. J., Cho, T., Kim, M. J., Seong, M., Park, S. S., Lee, J. H., Sim, N. S., & Ko, J. M. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01480-y · Cited by 29 · see citing works
Self-citationAnalysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
Boßelmann, C. M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., Kobow, K., Hamer, H. M., Delev, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54911-w · Cited by 26 · see citing works
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
Straka, B., Splítková, B., Vlčková, M., Tesner, P., Zůnová, H., Krsková, L., Koblížek, M., Kynčl, M., Maulisová, A., Bukačová, K., et al. (2023) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2023.09.009 · Cited by 25 · see citing works
Self-citationBeňová, B., Sanders, M. W. C. B., Mészárosová, A. U., Bělohlávková, A., Splítková, B., Novák, V., Staněk, D., Vlčková, M., Zámečnı́k, J., Aronica, E., et al. (2021) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2020.12.001 · Cited by 25 · see citing works
Self-citationmTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.
Zwakenberg, S., Westland, D., van Es, R. V., Rehmann, H., Anink, J., Ciapaite, J., Bosma, M., Stelloo, E., Liv, N., Alcaraz, P. S., et al. (2024) · Molecules and Cells · doi:10.1016/j.molcel.2024.10.009 · Cited by 22 · see citing works
Self-citationEvidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
Bennett, M., Hildebrand, M., Kayumi, S., Corbett, M., Gupta, S., Ye, Z.-M., Krivanek, M., Burgess, R., Henry, O. J., Damiano, J., et al. (2022) · Neurology: Genetics · doi:10.1212/nxg.0000000000000652 · Cited by 19 · see citing works
Leitner, D., Kanshin, E., Askenazi, M., Siu, Y., Friedman, D. J., Devore, S., Jones, D. R., Ueberheide, B. M., Wısnıewskı, T., & Devinsky, O. (2022) · PLoS ONE · doi:10.1371/journal.pone.0268597 · Cited by 23 · see citing works
Molecular diagnostics in drug‐resistant focal epilepsy define new disease entities
Kobow, K., Baulac, S., von Deimling, A., & Lee, J. H. (2021) · Brain Pathology · doi:10.1111/bpa.12963 · Cited by 22 · see citing works
Self-citationdo Canto, A. M., Vieira, A. S., de Matos, A. H. B., Carvalho, B. S., Henning, B., Norwood, B. A., Bauer, S., Rosenow, F., Gilioli, R., Cendes, F., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-61401-8 · Cited by 20 · see citing works
Moavero, R., Mühlebner, A., Luinenburg, M. J., Craiu, D., Aronica, E., & Curatolo, P. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107713 · Cited by 21 · see citing works
Self-citationMIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations
Doan, R. N., Miller, M. B., Kim, S. N., Rodin, R. E., Ganz, J., Bizzotto, S., Morillo, K. S., Huang, A. Y., Digumarthy, R., Zemmel, Z. M., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00893-3 · Cited by 20 · see citing works
Self-citationThreshold of somatic mosaicism leading to brain dysfunction with focal epilepsy
Kim, J., Park, S. M., Koh, H. Y., Ko, A., Kang, H., Chang, W. S., Kim, D. S., & Lee, J. H. (2024) · Brain · doi:10.1093/brain/awae190 · Cited by 20 · see citing works
Self-citationAuvin, S., & Baulac, S. (2023) · Revue Neurologique · doi:10.1016/j.neurol.2022.12.007 · Cited by 20 · see citing works
Honke, J., Hoffmann, L., Coras, R., Kobow, K., Leu, C., Pieper, T., Hartlieb, T., Bien, C., Woermann, F., Cloppenborg, T., et al. (2023) · Acta Neuropathologica Communications · doi:10.1186/s40478-023-01675-x · Cited by 19 · see citing works
Kao, H., Hu, S., Mihaylova, T. G., Ziobro, J. M., Ahn, E., Fine, C., Brang, D., Watson, B. O., & Wang, Y. (2021) · Epilepsia · doi:10.1111/epi.16868 · Cited by 18 · see citing works
Kim, J. H., Hwang, S., Son, H., Kim, D., Kim, I. B., Kim, M.-H., Sim, N. S., Kim, D. S., Ha, Y.-J. J., Lee, J., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010404 · Cited by 18 · see citing works
Self-citationAledo‐Serrano, Á., Carbó, A. V., Fenger, C., Gröppel, G., Hartlieb, T., Pascual, I., Herráez, E., Cabal-Paz, B., García‐Morales, I., Toledano, R., et al. (2023) · Neurotherapeutics · doi:10.1007/s13311-023-01395-z · Cited by 18 · see citing works
Somatic variant analysis of resected brain tissue in epilepsy surgery patients
Sanders, M. W. C. B., Koeleman, B. P. C., Brilstra, E. H., Jansen, F. E., Baldassari, S., Chipaux, M., Sim, N. S., Ko, A., Kang, H., Blümcke, I., et al. (2024) · Epilepsia · doi:10.1111/epi.18148 · Cited by 17 · see citing works
Self-citationLiquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics
Whitlock, J. H., Soelter, T. M., Williams, A. S., Hardigan, A. A., & Lasseigne, B. N. (2021) · Human Cell · doi:10.1007/s13577-021-00624-x · Cited by 16 · see citing works
Ververi, A., Zagaglia, S., Menzies, L. A., Baptista, J., Caswell, R. C., Baulac, S., Ellard, S., Lynch, S. A., Jacques, T. S., Chawla, M. S., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac225 · Cited by 16 · see citing works
Spatial transcriptomics in focal cortical dysplasia type IIb
Wang, Y., Wang, Y., Guo, L., Shen, C., Fu, Y., Wei, P., Shan, Y., Wu, Q., Piao, Y.-S., & Zhao, G. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01897-7 · Cited by 15 · see citing works
Klein, K. M., Mascarenhas, R., Merrikh, D., Khanbabaei, M., Maroilley, T., Kaur, N., Liu, Y., Soule, T., Manalo, M. K., Tamura, G., et al. (2024) · Epilepsia · doi:10.1111/epi.17980 · Cited by 15 · see citing works
Focal cortical dysplasia: a practical guide for neurologists
Balestrini, S., Barba, C., Thom, M., & Guerrini, R. (2023) · Practical Neurology · doi:10.1136/pn-2022-003404 · Cited by 14 · see citing works
Chang, B. S., Krishnan, V., Dulla, C. G., Jetté, N., Marsh, E. D., Dacks, P. A., Whittemore, V., & Poduri, A. (2020) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759719895280 · Cited by 14 · see citing works
Shevlyakov, A. D., Kolesnikova, T. O., de Abreu, M. S., Petersen, E. V., Yenkoyan, K. B., Demin, K. A., & Kalueff, A. V. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24065280 · Cited by 13 · see citing works
Application of single cell genomics to focal epilepsies: A call to action
Khoshkhoo, S., Lal, D., & Walsh, C. A. (2021) · Brain Pathology · doi:10.1111/bpa.12958 · Cited by 15 · see citing works
Garner, G. L., Streetman, D. R., Fricker, J. G., Bui, N. E., Yang, C., Patel, N., Brown, N. J., Shahrestani, S., Rangel, I. C., Singh, R., et al. (2022) · Interdisciplinary Neurosurgery · doi:10.1016/j.inat.2022.101635 · Cited by 13 · see citing works
Castello, M. A., & Gleeson, J. G. (2020) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2020.10.005 · Cited by 13 · see citing works
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development
Krochmalnek, E., Accogli, A., St‐Onge, J., Addour-Boudrahem, N., Prakash, G., Kim, S., Brunette‐Clément, T., Alhajaj, G., Mougharbel, L., Bruneau, E., et al. (2023) · Neurology Genetics · doi:10.1212/nxg.0000000000200103 · Cited by 12 · see citing works
Self-citationDainelli, A., Iacomino, M., Rossato, S., Bugin, S., Traverso, M., Severino, M., Gustincich, S., Capra, V., Duca, M. D., Zara, F., et al. (2023) · Epilepsia Open · doi:10.1002/epi4.12798 · Cited by 11 · see citing works
Genetic Testing for Malformations of Cortical Development
Straka, B., Splítková, B., Krsková, L., Zámečnı́k, J., Vlčková, M., Balaščaková, M., Tesner, P., Ježdík, P., Tichý, M., Kynčl, M., et al. (2022) · Neurology Genetics · doi:10.1212/nxg.0000000000200032 · Cited by 11 · see citing works
Wang, Y., Yu, T., Blümcke, I., Cai, Y., Sun, K., Gao, R., Wang, Y., Fu, Y., Wang, W., Wang, Y., et al. (2022) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12874 · Cited by 11 · see citing works
ILAE genetic literacy series: Focal cortical dysplasia
Macdonald‐Laurs, E., Leventer, R. J., & the ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce** (2024) · Epileptic Disorders · doi:10.1002/epd2.20308 · Cited by 10 · see citing works
Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants
Lim, Y., Park, I., Lee, H.-H., Baek, K., Lee, B.-C., & Cho, G. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2022.08.002 · Cited by 10 · see citing works
Xu, Y., Zhao, R., Wang, M., Wang, X., Wang, Y., Li, H., Ma, Y., Wu, B., & Zhou, Y. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2086 · Cited by 9 · see citing works
Ko, A., Sim, N. S., Choi, H. S., Yang, D., Kim, S. H., Lee, J. S., Kim, D.-S., Lee, J. H., Kim, H. D., & Kang, H. (2022) · Journal of Clinical Neurology · doi:10.3988/jcn.2022.18.1.71 · Cited by 9 · see citing works
Self-citationMeulemeester, A. D., Heylen, L., Siekierska, A., Mills, J. D., Romagnolo, A., van der Wel, N. N., Aronica, E., & de Witte, P. A. M. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.952832 · Cited by 9 · see citing works
Self-citationTechnological and computational approaches to detect somatic mosaicism in epilepsy
Boßelmann, C. M., Leu, C., & Lal, D. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106208 · Cited by 8 · see citing works
In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy
Danačíková, Š., Straka, B., Daněk, J., Kořínek, V., & Otáhal, J. (2024) · Epilepsia Open · doi:10.1002/epi4.12941 · Cited by 7 · see citing works
Kang, H.-J., Kim, D.-S., Kim, S. H., Lee, J. H., Ko, A., Kim, S. H., Lee, J. S., Kim, H. D., & Kang, H. (2022) · Annals of Child Neurology · doi:10.26815/acn.2022.00073 · Cited by 8 · see citing works
Self-citationDroplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II
Lee, W. S., Leventer, R. J., & Lockhart, P. J. (2022) · Brain · doi:10.1093/brain/awac320 · Cited by 8 · see citing works
Modeling Somatic Mutations Associated With Neurodevelopmental Disorders in Human Brain Organoids
Deb, B. K., & Bateup, H. S. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.787243 · Cited by 9 · see citing works
Ferri, L., Menghi, V., Licchetta, L., Dimartino, P., Minardi, R., Davì, C., Vito, L. D., Cifaldi, E., Zenesini, C., Gozzo, F., et al. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.109716 · Cited by 7 · see citing works
Mascarenhas, R., Merrikh, D., Khanbabaei, M., Kaur, N., Ghaderi, N., Maroilley, T., Liu, Y., Soule, T., Appendino, J. P., Jacobs, J., et al. (2025) · Epilepsia · doi:10.1111/epi.18251 · Cited by 7 · see citing works
Hippocampal and neocortical BRAF mutant non‐expansive lesions in focal epilepsies
Lerond, J., Mathon, B., Scopin, M., Nichelli, L., Guégan, J., Bertholle, C., Izac, B., Andrieu, M., Gareau, T., Donneger, F., et al. (2023) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12937 · Cited by 7 · see citing works
Vorndran, J., & Blümcke, I. (2024) · Epilepsia · doi:10.1111/epi.18161 · Cited by 7 · see citing works
Iourov, I. Y., Gerasimov, A. P., Zelenova, M. A., Ivanova, N. E., Куринная, О. С., Zabrodskaya, Y. M., Ia, D., Barantsevich, E. R., Vasin, K. S., Kolotii, A. D., et al. (2023) · Molecular Cytogenetics · doi:10.1186/s13039-022-00634-w · Cited by 7 · see citing works
mTORC1 activation drives astrocyte reactivity in cortical tubers and brain organoid models of TSCPreprint
Li, T. L., Blair, J. D., Yoo, T., Grant, G. A., Hockemeyer, D. F., Porter, B. E., & Bateup, H. S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.28.640914 · Cited by 8 · see citing works
Fang, Y., Zhang, Y., Huang, T., Yang, S., Li, Y., & Zhou, L.-M. (2025) · Acta Epileptologica · doi:10.1186/s42494-024-00195-y · Cited by 6 · see citing works
WONOEP appraisal: Genetic insights into early onset epilepsies
Quatraccioni, A., Cases‐Cunillera, S., Balagura, G., Coleman, M., Rossini, L., Mills, J. D., Casillas-Espinosa, P. M., Moshé, S. L., Sankar, R., Baulac, S., et al. (2024) · Epilepsia · doi:10.1111/epi.18124 · Cited by 6 · see citing works
Neuropathology of Surgically Managed Epilepsy Specimens
Thomas, D., & Pierson, C. R. (2020) · Neurosurgery · doi:10.1093/neuros/nyaa366 · Cited by 6 · see citing works
Neurosurgery elucidates somatic mutations
Maury, E. A., Walsh, C. A., & Kahle, K. T. (2023) · Science · doi:10.1126/science.adj2244 · Cited by 6 · see citing works
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Kooshavar, D., Amor, D. J., Boggs, K., Baker, N. L., Barnett, C., Silva, M. D., Edwards, S., Fahey, M. C., Marum, J. E., Snell, P., et al. (2024) · Brain Communications · doi:10.1093/braincomms/fcae056 · Cited by 5 · see citing works
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
Coleman, M., Pinares-Garcia, P., Stephenson, S. E. M., Lee, W. S., Kooshavar, D., McLean, C., Howell, K. B., Leventer, R. J., Reid, C. A., & Lockhart, P. J. (2024) · Neurology Genetics · doi:10.1212/nxg.0000000000200135 · Cited by 5 · see citing works
Kim, I. B., Kim, M.-H., Jung, S., Kim, W. K., Lee, J., Ju, Y. S., Webster, M. J., Kim, J. H., Kim, J., Kim, H. J., et al. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01284-1 · Cited by 5 · see citing works
Self-citationMayo, S., Gómez-Manjón, I., Fernández‐Martínez, F. J., Camacho, A., Martı́nez, F., & Benito‐León, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23094879 · Cited by 5 · see citing works
Brain somatic mutations as RNA therapeutic targets in neurological disorders
Lee, S., & Lee, J. H. (2022) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14786 · Cited by 5 · see citing works
Self-citationDimartino, P., Mariani, V., Marconi, C., Minardi, R., Bramerio, M., Licchetta, L., Menghi, V., Morandi, L., Magini, P., Mongelli, P., et al. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00488-1 · Cited by 5 · see citing works
- Authors
- Sim, N. S., Ko, A., Kim, W. K., Kim, S. H., Kim, J. S., Shim, K.-W., Aronica, E., Mijnsbergen, C., Spliet, W. G. M., Koh, H. Y., Kim, H. D., Lee, J. S., Kim, D. S., Kang, H.-C., & Lee, J. H.
- Affiliations
- Korea Advanced Institute of Science and Technology (KR)
- Pusan National University Yangsan Hospital (KR)
- Yonsei University (KR)
- Amsterdam Neuroscience (NL)
- University Medical Center Utrecht (NL)
- Corresponding author
- Lee, Joon Soo
- Kang, Hoon-Chul
- Lee, Jeong Ho
- ORCID
- Venue
- Acta Neuropathologica
- Published
- 2019-08-03
- Volume
- 138
- Issue
- 6
- Pages
- 901-912
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2966760373
- Cited by
- 137
- References
- 38
- Citations by year
- 2026: 12 · 2025: 9 · 2024: 27 · 2023: 18 · 2022: 27 · 2021: 25 · 2020: 17 · 2019: 2
- FWCI
- 13.84
- Type
- journal article
- Language
- en
- Open access
- green
- pure.amsterdamumc.nl
- Licence
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- YUHSpace (Yonsei University Medical Library) (submittedVersion, cc-by-nc-nd)
- Funders
- Suh Kyungbae Foundation
- Korean Health Technology R&D Project (HI15C1601, HI18C0586, H15C3143, H16C0415)
- Netherlands Organisation for Health Research and Development (95105004)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- drug-resistant epilepsy, formalin-fixed paraffin-embedded tissue, germline mutations, focal cortical dysplasia type II, AKT3, DEPDC5, mTOR, PIK3CA, TSC1, TSC2, BRAF, genetic counseling
- MeSH terms
- Drug Resistant Epilepsy, Adolescent, Brain, Child, Child, Preschool, Female, Humans, Infant, Male, Mutation, Cohort Studies, Sequence Analysis, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
