Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling

Platt, R. J., Chen, S., Zhou, Y., Yim, M. J., Swiech, L., Kempton, H. R., Dahlman, J. E., Parnas, O., Eisenhaure, T. M., Jovanovic, M., et al. (2014) · Cell · doi:10.1016/j.cell.2014.09.014 · Cited by 2,001

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

Blümcke, I., Thom, M., Aronica, E., Armstrong, D. D., Vinters, H. V., Palmini, A., Jacques, T. S., AVANZINI, G., Barkovich, A. J., Battaglia, G. S., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02777.x · Cited by 1,746

Dendritic spine pathology in neuropsychiatric disorders

Penzes, P., Cahill, M. E., Jones, K. A., VanLeeuwen, J.-E., & Woolfrey, K. M. (2011) · Nature Neuroscience · doi:10.1038/nn.2741 · Cited by 1,523

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

Bar-Peled, L., Chantranupong, L., Cherniack, A. D., Chen, W. W., Ottina, K. A., Grabiner, B. C., Spear, E. D., Carter, S. L., Meyerson, M., & Sabatini, D. M. (2013) · Science · doi:10.1126/science.1232044 · Cited by 1,080

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

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

French, J. A., Lawson, J. A., Yapici, Z., Ikeda, H., Polster, T., Nabbout, R., Curatolo, P., de Vries, P. J., Dlugos, D. J., Berkowitz, N., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)31419-2 · Cited by 764

Somatic mutation, genomic variation, and neurological disease

Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584

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

Lim, 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 518

Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models

Aiba, I., & Noebels, J. L. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa4050 · Cited by 333

Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Bagnall, R. D., Crompton, D. E., Petrovski, S., Lam, L., Cutmore, C., Garry, S. I., Sadleir, L. G., Dibbens, L. M., Cairns, A. G., Kivity, S., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24596 · Cited by 289

Assessment of genetic variant burden in epilepsy-associated brain lesions

Niestroj, L., May, P., Artomov, M., Kobow, K., Coras, R., Pérez‐Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0484-4 · Cited by 16

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

Mary, L., Nourisson, E., Feger, C., Laugel, V., Chaigne, D., Keren, B., Afenjar, A., de Villemeur, T. B., Trost, D., Cieuta‐Walti, C., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62181 · Cited by 16

SEA and GATOR 10 Years Later

Loissell-Baltazar, Y. A., & Dokudovskaya, S. (2021) · Cells · doi:10.3390/cells10102689 · Cited by 16

The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

Ma, Q., Chen, G., Li, Y., Guo, Z., & Zhang, X. (2023) · Genes & Diseases · doi:10.1016/j.gendis.2023.04.041 · Cited by 18

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

Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy

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

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development

Bakouh, N., Castaño-Martín, R., Métais, A., Dan, E. L., Balducci, E., Chhuon, C., Lepicka, J., Barcia, G., Losito, E., Lourdel, S., et al. (2024) · Brain · doi:10.1093/brain/awae262 · Cited by 13

Focal cortical dysplasia as a cause of epilepsy: The current evidence of associated genes and future therapeutic treatments

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

Insight into developmental mechanisms of global and focal migration disorders of cortical development

Castello, M. A., & Gleeson, J. G. (2020) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2020.10.005 · Cited by 10

Dynamic Analysis of 4E-BP1 Phosphorylation in Neurons with Tsc2 or Depdc5 Knockout

Iffland, P. H., Barnes, A. E., Baybis, M., & Crino, P. (2020) · Experimental Neurology · doi:10.1016/j.expneurol.2020.113432 · Cited by 7

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 15

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

Dainelli, 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 12

Variants inCHRNB2andCHRNA4Identified in Patients with Insular Epilepsy

Cadieux‐Dion, M., Meneghini, S., Villa, C., Toffa, D. H., Wickström, R., Bouthillier, A., Sandvik, U., Gustavsson, B., Mohamed, I., Cossette, P., et al. (2020) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/cjn.2020.126 · Cited by 12

Exploring Dendritic and Spine Structural Profiles in Epilepsy: Insights From Human Studies and Experimental Animal Models

Kumari, S., & Brewster, A. L. (2023) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597231218603 · Cited by 12

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Ritter, L. M., Annear, N. M. P., Baple, E. L., Ben-Chaabane, L. Y., Bódi, I., Brosson, L., Cadwgan, J., Coslett, B., Crosby, A. H., Davies, D. M., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03740-1 · Cited by 12

The clinico‐pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism

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

DEPDC5 takes a second hit in familial focal epilepsy

Anderson, M. P. (2018) · Journal of Clinical Investigation · doi:10.1172/jci121052 · Cited by 12

Genetics in Epilepsy

Martinez, L. A., Lai, Y., Holder, J. L., & Anderson, A. E. (2021) · Neurologic Clinics · doi:10.1016/j.ncl.2021.05.005 · Cited by 14

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

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants

D’Gama, A. M., Phillips, H. W., Wang, Y., Chiu, M. Y., Chahine, Y., Swanson, A. C., Smith, R. S., Pearl, P. L., Tsuboyama, M., Madsen, J. R., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf113 · Cited by 10

Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives

Checri, R., Baldassari, S., & Baulac, S. (2025) · Revue Neurologique · doi:10.1016/j.neurol.2025.03.003 · Cited by 10

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Kittock, C. M., & Pilaz, L. (2023) · Developmental Neurobiology · doi:10.1002/dneu.22910 · Cited by 10

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Du, S., Zeng, S., Li, S., Ma, H., Chen, R., Luo, J., Wang, X., Ma, T., Xu, X., Sun, H., et al. (2023) · Science China Life Sciences · doi:10.1007/s11427-022-2313-1 · Cited by 10

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review

Hu, J.-J., Gao, X., Chen, L., Kan, Y.-L., Du, Z., Xin, S., Ji, W.-K., Yu, Q., & Cao, L.-R. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2022.1054567 · Cited by 11

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing

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

Novel GATOR1 variants in focal epilepsy

Kovačević, M., Janković, M. Z., Branković, M., Milicevic, O. S., Novaković, I. V., Sokić, D. V., Ristić, A. J., Shamsani, J., & Vojvodić, N. M. (2023) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109139 · Cited by 9

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor

Hadzsiev, K., Hegyi, M., Fogarasi, A., Bodó-Baltavári, T., Zsigmond, A., Maász, A., Szabó, A., & Till, Á. (2023) · Neuropediatrics · doi:10.1055/a-2104-1614 · Cited by 9

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Ye, Z., Bennett, M. F., Bahlo, M., Scheffer, I. E., Berkovic, S. F., Perucca, P., & Hildebrand, M. S. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1981288 · Cited by 9

Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities

Meulemeester, 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

Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development

Lee, S., Kim, S. H., Kim, B., Lee, S., Choi, J. R., Kim, H. D., Lee, J. S., & Kang, H. (2019) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.07.010 · Cited by 12

Ragopathies and the rising influence of RagGTPases on human diseases

Sambri, I., Ferniani, M., & Ballabio, A. (2024) · Nature Communications · doi:10.1038/s41467-024-50034-4 · Cited by 8

Technological 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 9

GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1

Muller, M., Bélanger, J., Hadj-Aissa, I., Zhang, C., Sephton, C. F., & Dutchak, P. A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25042068 · Cited by 8

Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model

Dentel, B., Angeles-Perez, L., Ren, C., Jakkamsetti, V., Holley, A. J., Caballero, D., Oh, E., Gibson, J. R., Pascual, J. M., Huber, K. M., et al. (2022) · iScience · doi:10.1016/j.isci.2022.104334 · Cited by 8

Fine-tuning of mTOR signaling by the UBE4B-KLHL22 E3 ubiquitin ligase cascade in brain development

Kong, X., Shu, X., Wang, J., Liu, D., Ni, Y., Zhao, W., Wang, L., Gao, Z., Chen, J., Yang, B., et al. (2022) · Development · doi:10.1242/dev.201286 · Cited by 8

The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases

Shu, L., Maroilley, T., & Tarailo‐Graovac, M. (2023) · Genes · doi:10.3390/genes14010196 · Cited by 9

Genetics of nonlesional focal epilepsy in adults and surgical implications

Karge, R. A., Knopp, C., Weber, Y. G., & Wolking, S. (2023) · Clinical Epileptology · doi:10.1007/s10309-023-00568-2 · Cited by 8

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

Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies

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

Cytogenomic epileptology

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 8

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

Wang, Y., Chen, Y., Wang, S. M., Liu, X., Gu, Y., & Feng, Z. (2020) · BMC Medical Genetics · doi:10.1186/s12881-020-01157-0 · Cited by 7

Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms

Fang, Y., Zhang, Y., Huang, T., Yang, S., Li, Y., & Zhou, L. (2025) · Acta Epileptologica · doi:10.1186/s42494-024-00195-y · Cited by 7

Neuropathology and epilepsy surgery – 2024 update

Blümcke, I. (2024) · Free Neuropathology · doi:10.17879/freeneuropathology-2024-5347 · Cited by 6

Multiparameter quantitative analyses of diagnostic cells in brain tissues from tuberous sclerosis complex

Arceneaux, J. S., Brockman, A. A., Khurana, R., Chalkley, M. L., Geben, L. C., Krbanjevic, A., Vestal, M. L., Zafar, M., Weatherspoon, S. E., Mobley, B. C., et al. (2024) · Cytometry Part B Clinical Cytometry · doi:10.1002/cyto.b.22194 · Cited by 6

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 5

Targeted therapies in epilepsies

Auvin, S. (2025) · Revue Neurologique · doi:10.1016/j.neurol.2025.04.003 · Cited by 6

Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery

Specchio, N., Pepi, C., Palma, L. D., Trivisano, M., Vigevano, F., & Curatolo, P. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1906651 · Cited by 6

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

Wang, G., Wu, W., Xu, Y., Yang, Z., Xiao, B., & Long, L. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.891621 · Cited by 8

Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review

Yang, D., Wang, J., Qin, Z., Feng, J., Mao, C., Chen, Y., Huang, X., & Ruan, Y. (2023) · Epilepsia Open · doi:10.1002/epi4.12856 · Cited by 6

Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.

Li, M., Huang, Z., Zhang, X.-T., Duan, Y.-R., Jia, Y., Ye, J., & Wang, Y.-P. (2019) · Epileptic disorders · doi:10.1684/epd.2019.1066 · Cited by 7

Corrigendum: Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies

Nguyen, L. H., & Bordey, A. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.715363 · Cited by 6

Insights Into DEPDC5 -Related Epilepsy From 586 People

Ochoa‐Urrea, M., Butler, E. A., Brünger, T., Leu, C., Boßelmann, C. M., Najm, I., Lhatoo, S. D., & Lal, D. (2025) · Neurology · doi:10.1212/wnl.0000000000214235 · Cited by 5

The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function

Nguyen, L. H., Xu, Y., Nair, M., & Bordey, A. (2024) · eLife · doi:10.7554/elife.91010.3 · Cited by 5

Abnormal Rat Cortical Development Induced by Ventricular Injection of rHMGB1 Mimics the Pathophysiology of Human Cortical Dysplasia

Yang, X., Zhang, X., Ma, Y., Wang, Z., Huang, K., Liu, G., Shen, K., Zhu, G., Wang, T., Lv, S., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.634405 · Cited by 5

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

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., Yang, H., Yang, Y., Wang, X., Shu, Y., & Ding, J. (2025) · Epilepsia · doi:10.1111/epi.18498 · Cited by 4

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity

Pan, T., Lin, G., Li, X., VanHeyningen, D., Walker, J. C., Kohli, S., Saravanan, A., Kondur, A., Jaklic, D. C., Pantoja-Gutierrez, S., et al. (2026) · Stem Cell Reports · doi:10.1016/j.stemcr.2026.102833 · Cited by 4

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Blümcke, I., & Vorndran, J. (2024) · Pathology · doi:10.1016/j.pathol.2024.12.386 · Cited by 4

Somatic mosaicism in focal epilepsies

Gooley, S., Perucca, P., Tubb, C., Hildebrand, M. S., & Berkovic, S. F. (2024) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001244 · Cited by 5

A novel variation in DEPDC5 causing familial focal epilepsy with variable foci

Wang, Y., Niu, W., Shi, H. S., Bao, X., Liu, Y., Lu, M., & Sun, Y. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1414259 · Cited by 4

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Ivanova, I., & Shen, K. (2024) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-3-031-58843-3_12 · Cited by 4

mTOR in Acquired and Genetic Models of Epilepsy

Wong, M., Bordey, A., & Danzer, S. C. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0004 · Cited by 4

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Lu, R., Xu, Y., Li, H., Xiong, M., Zhou, W., Feng, W., & Zhao, R. (2024) · Journal of Molecular Neuroscience · doi:10.1007/s12031-024-02304-5 · Cited by 4

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Moloney, P. B., & Delanty, N. (2025) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2025.2462280 · Cited by 4

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Sapir, T., Barakat, T. S., Paredes, M. F., Lerman‐Sagie, T., Aronica, E., Klonowski, W., Nguyen, L., Zeev, B. B., Bahi‐Buisson, N., Leventer, R. J., et al. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00434 · Cited by 4

The mTOR pathway genes mTOR , Rheb , Depdc5 , Pten , and Tsc1 have convergent and divergent impacts on cortical neuron development and functionPreprint

Nguyen, L. H., Xu, Y., Nair, M., & Bordey, A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.11.553034 · Cited by 4

α-hederin decreases the glycolysis level in intestinal epithelial cells via SNX10-mediated DEPDC5 degradation

Feng, H., Wang, J., Tao, L., Li, L., Fan, M., Yu, C., Sun, D., Cheng, H., & Shen, W. (2025) · Journal of Pharmaceutical Analysis · doi:10.1016/j.jpha.2025.101301 · Cited by 3

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Alsayed, A., Hakim, Z., Merrikh, D., Khanbabaei, M., Kaur, N., Hader, W. J., Soule, T., Ashtiani, S., Polanco‐Tovar, G., Scantlebury, M. H., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64204 · Cited by 3

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Petralla, S., Crocco, E., Giustizieri, M., Palma, L. D., Cremisi, F., Cherubini, E., Specchio, N., Cattaneo, A., & Marinelli, S. (2026) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2026.1794559 · Cited by 3

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Feliciano, D. M. (2023) · Frontiers in Mammal Science · doi:10.3389/fmamm.2023.1231778 · Cited by 3

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Nabbout, R., & Kuchenbuch, M. (2025) · Epilepsia · doi:10.1111/epi.18285 · Cited by 3

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Cerullo, M., Canevari, C., Marte, A., Bacq, A., Fusco, A. D., Maletic, M., Baulac, S., & Benfenati, F. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106985 · Cited by 1

Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy

Groff, K. J., Liang, Y.-N., Morici, C., Modasia, J. B., Mehendale, L., Gupta, N., D’Amore, A., Choe, Y., Hameed, M. Q., Rotenberg, A., et al. (2025) · JCI Insight · doi:10.1172/jci.insight.181544 · Cited by 2

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Procházková, N., Olson, C. V. L., Shariati, N., Rozlivková, J. T., Populová, J., Řehořová, M., Kudláček, J., Jiruška, P., & Novák, O. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02166-x · Cited by 5

Focal cortical dysplasia

D’Gama, A. M., & Walsh, C. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814409-1.00012-4 · Cited by 2

Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies

Mabika, M., Agbogba, K., Cote, S. R., Lippé, S., Riou, É., Cieuta‐Walti, C., & Lepage, J. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02600-6 · Cited by 2

Neue Entwicklungen in der genetischen Grundlage kortikaler Malformationen

Döring, J. H., & Syrbe, S. (2019) · Clinical Epileptology · doi:10.1007/s10309-019-0266-6 · Cited by 2

DEPDC5, a new key to understand various epilepsies

Ishida, S. (2018) · Folia Pharmacologica Japonica · doi:10.1254/fpj.152.281 · Cited by 2

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

Jesus‐Ribeiro, J., Pereira, C., Robalo, C., Pereira, D. J., Duro, D., Ramos, F. V., Freire, A., & Melo, J. B. (2021) · Oxford Medical Case Reports · doi:10.1093/omcr/omab027 · Cited by 2

[A second-hit somatic mutation drives neurodevelopmental epilepsy].

Ribierre, T., & Baulac, S. (2019) · Medecine sciences : M/S · doi:10.1051/medsci/2019058

More is Different in mTORopathies

Wang, Y. (2024) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597241280470 · Cited by 2

Assessment of Dynein-Mediated Nuclear Migration in the Developing Cortex by Live-Tissue Microscopy

Cheng, H.-Y., Nian, F., Ou, Y., & Tsai, J. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-2958-1_4 · Cited by 1

Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)

Baer, S., Abi‐Warde, M., Spitz, M., Gauer, L., Hirsch, É., Laugel, V., Hirsch, M. P. V., Lambert, C., Piton, A., Schluth‐Bolard, C., et al. (2025) · Seizure · doi:10.1016/j.seizure.2025.03.013 · Cited by 1

Alterations in dopaminergic innervation and receptors in focal cortical dysplasia

Meli, N., Sheran, K., Pitsch, J., Krabbe, S., Borger, V., Baumgartner, T. R., Becker, A. J., & Blaess, S. (2025) · Brain · doi:10.1093/brain/awaf080 · Cited by 1

The role of genetic testing in evaluating surgical outcomes for pediatric focal cortical dysplasia associated with NPRL3 variant

Li, B., Liu, L., Su, J., Jia, S., Wang, Z. I., Li, X., & Zhao, S. (2025) · Epilepsy & Behavior Reports · doi:10.1016/j.ebr.2025.100808 · Cited by 1

The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment

Jones, M. S. O., Lindlar, S., Ludwig, J., Waltes, R., Kumar, A., von Brauchitsch, S., Rossi, A., Ullrich, E., Momma, S., Freitag, C. M., et al. (2025) · Epilepsia · doi:10.1111/epi.18549 · Cited by 1

Acute Postoperative Seizures are a Negative Prognostic Factor for Seizure Freedom After Epilepsy Surgery for Focal Cortical Dysplasia

Rylander, T., Grubor, I., Strandberg, M., & Bengzon, J. (2025) · World Neurosurgery · doi:10.1016/j.wneu.2025.124352 · Cited by 1

Cell-type-resolved transcriptomic landscape of human focal cortical dysplasia

Fang, C., Liu, Y., Zhang, X., Wang, Z., Guo, R., Guo, J., Liu, X., Tan, Y., Lu, H., Zhao, R., et al. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2513674123 · Cited by 2

Malformations of Cortical Development

Geraldo, A. F., Rossi, A., & Severino, M. (2021) · Springer eBooks · doi:10.1007/978-3-662-46258-4_6-1 · Cited by 2

Malformación del desarrollo cortical hemisférico

Figueroa, J. Á. R., Berzabá, J. A., & Ramírez-Navarrete, E. (2020) · Anales Médicos de la Asociación Médica del Centro Médico ABC · doi:10.35366/95682 · Cited by 1

Cortical developmental malformations and epilepsy

Maksimova, M. Y., & Михайловна, Т. А. (2024) · Epilepsy and Paroxysmal Conditions · doi:10.17749/2077-8333/epi.par.con.2024.206 · Cited by 1

DEPDC5 mutations in familial epilepsy syndrome: genetic insights and therapeutic approaches

Diallo, M. K. C., Mukesh, S., KAPIL, L., Singla, R., Tar, D., Tammineedi, S. N., Singer, E. D., Chhayani, H., Arumaithurai, K., Patel, U. K., et al. (2025) · Epilepsy and Paroxysmal Conditions · doi:10.17749/2077-8333/epi.par.con.2024.193 · Cited by 1

Epilepsy genetics—considerations for clinical practice today and for the future

Goldman, A. M., & Noebels, J. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00017-5 · Cited by 1

Treatment strategies targeting specific genetic etiologies in epilepsy

Kim, H. J., & Kang, H. (2021) · Journal of genetic medicine · doi:10.5734/jgm.2021.18.1.8 · Cited by 1

Caracterización de displasia cortical focal, en pacientes atendidos en el Hospital Metropolitano, 2010-2021

Campoverde, F. M. T., & Herrera, E. P. A. (2022) · Metro Ciencia · doi:10.47464/metrociencia/vol30/4/2022/22-34 · Cited by 1

Getting Sucker Punched by Depdc5 Really Hurts

Weston, M. (2020) · Epilepsy Currents · doi:10.1177/1535759720956992

Developmental Characterization of Neuronal Migration Anomalies and Axon Proliferation in mTOR pathway-associated Malformations of Cortical DevelopmentPreprint

Hoffman, P. B., Svalina, M. N., Flores, C. A., Brzezinski, C. R., Kushner, J. K., Staple, B. L., Franco, S. J., & Alexander, A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.03.11.532231 · Cited by 1

The mTOR pathway genes mTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and functionPreprint

Nguyen, L. H., Xu, Y., Nair, M., & Bordey, A. (2023) · eLife · doi:10.7554/elife.91010.1 · Cited by 1

Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 loss-of-functionPreprint

Maletic, M., Bizzotto, S., Ribierre, T., Guerdoud, K., Raoux, C., Doladilhe, M., Dalle, C., Picard, F., & Baulac, S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.25.661323 · Cited by 1

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissuePreprint

Miller, A. R., Anderson, J. J., Gonzalez, M. E. H., Venkata, L. P. R., Stonerock, E., Mashburn‐Warren, L., Daley, A., Leonard, J. A., Pindrik, J., Shaikhouni, A., et al. (2026) · Genome Research · doi:10.1101/gr.281418.125 · Cited by 1

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

The role of DEPDC5 in the pathogenesis of mTOR-dependent epilepsy and focal cortical dysplasia

Fusco, A. D. (2020) · CINECA IRIS Institutial Research Information System (University of Genoa) · doi:10.15167/de-fusco-antonio_phd2020-03-24

DEPDC5 takes a second hit in familial focal epilepsy

Anderson, M. P. (2018) · Journal of Clinical Investigation · doi:10.1172/jci121052 · Cited by 12

Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy

Groff, K. J., Liang, Y.-N., Morici, C., Modasia, J. B., Mehendale, L., Gupta, N., D’Amore, A., Choe, Y., Hameed, M. Q., Rotenberg, A., et al. (2025) · JCI Insight · doi:10.1172/jci.insight.181544 · Cited by 2

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Scheffer, I. E., Heron, S. E., Regan, B. M., Mandelstam, S. A., Crompton, D. E., Hodgson, B. L., Licchetta, L., Provini, F., Bisulli, F., Vadlamudi, L., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24126 · Cited by 234