A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival

DHAM-BMSC Matrix Promotes Axonal Regeneration and Functional Recovery After Spinal Cord Injury in Adult Rats

Liang, H., Liang, P., Xu, Y., Wu, J., Liang, T., & Xu, X. (2009) · Journal of Neurotrauma · doi:10.1089/neu.2008.0850 · Cited by 1,749

Growing roles for the mTOR pathway

Sarbassov, D. D., Ali, S. M., & Sabatini, D. M. (2005) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2005.09.009 · Cited by 1,590

GAP-43: an intrinsic determinant of neuronal development and plasticity

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Hypothalamic mTOR Signaling Regulates Food Intake

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mTOR and S6K1 Mediate Assembly of the Translation Preinitiation Complex through Dynamic Protein Interchange and Ordered Phosphorylation Events

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Dysregulation of the TSC-mTOR pathway in human disease

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A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

Kwiatkowski, D. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.525 · Cited by 674

Fluoro-Jade C results in ultra high resolution and contrast labeling of degenerating neurons

Schmued, L. C., Stowers, C. C., Scallet, A. C., & Xu, L. (2005) · Brain Research · doi:10.1016/j.brainres.2004.11.054 · Cited by 633

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brainPreprint

Zhu, Y., Romero‐Ortega, M. I., Ghosh, P., Ye, Z., Charnay, P., Rushing, E. J., Marth, J. D., & Parada, L. F. (2001) · Genes & Development · doi:10.1101/gad.862101 · Cited by 606

Autism and tuberous sclerosis

Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 511

New frontiers in modeling tuberous sclerosis with human stem cell‐derived neurons and brain organoids

Blair, J. D., & Bateup, H. S. (2019) · Developmental Dynamics · doi:10.1002/dvdy.60 · Cited by 37

Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission

Bassetti, D., Luhmann, H. J., & Kirischuk, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147273 · Cited by 40

Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex

Sugiura, H., Yasuda, S., Katsurabayashi, S., Kawano, H., Endo, K., Takasaki, K., Iwasaki, K., Ichikawa, M., Kobayashi, T., Hino, O., et al. (2015) · Nature Communications · doi:10.1038/ncomms7842 · Cited by 37

Management of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex

Krueger, D. A. (2013) · Current Treatment Options in Neurology · doi:10.1007/s11940-013-0249-2 · Cited by 36

Tauopathy and Epilepsy Comorbidities and Underlying Mechanisms

Hwang, K., Vaknalli, R. N., Addo-Osafo, K., Vicente, M., & Vossel, K. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.903973 · Cited by 35

Repeated stimulation of dopamine D1‐like receptor and hyperactivation of mTOR signaling lead to generalized seizures, altered dentate gyrus plasticity, and memory deficits

Gangarossa, G., Ceolin, L., Paucard, A., Lerner‐Natoli, M., Perroy, J., Fagni, L., & Valjent, E. (2014) · Hippocampus · doi:10.1002/hipo.22327 · Cited by 35

Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1

Benthall, K. N., Ong, S. L., & Bateup, H. S. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.05.037 · Cited by 32

An insight into crosstalk among multiple signaling pathways contributing to epileptogenesis

Gautam, V., Rawat, K., Sandhu, A., Kumari, P., Singh, N., & Saha, L. (2021) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2021.174469 · Cited by 34

Deletion of mTOR in Reactive Astrocytes Suppresses Chronic Seizures in a Mouse Model of Temporal Lobe Epilepsy

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Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex

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A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles

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All‐Optical Electrophysiology for Disease Modeling and Pharmacological Characterization of Neurons

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Annual Research Review: Transgenic mouse models of childhood‐onset psychiatric disorders

Robertson, H. R., & Feng, G. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02380.x · Cited by 33

Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex

Baumer, F. M., Peters, J. M., Clancy, S., Prohl, A. K., Prabhu, S. P., Scherrer, B., Jansen, F. E., Braun, K. P. J., Şahin, M., Stamm, A., et al. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx247 · Cited by 34

Mechanistic Target of Rapamycin Pathway in Epileptic Disorders

Kim, J., & Lee, J. H. (2019) · Journal of Korean Neurosurgical Society · doi:10.3340/jkns.2019.0027 · Cited by 35

Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex

Wu, X., Sosunov, A. A., Lado, W. E., Teoh, J. J., Ham, A., Li, H., Al‐Dalahmah, O., Gill, B. J. A., Arancio, O., Schevon, C. A., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111085 · Cited by 27

Postnatal reduction of tuberous sclerosis complex 1 expression in astrocytes and neurons causes seizures in an age‐dependent manner

Zou, J., Zhang, B., Gutmann, D. H., & Wong, M. (2017) · Epilepsia · doi:10.1111/epi.13923 · Cited by 35

mTOR and epileptogenesis in developmental brain malformations

Wong, M., & Crino, P. B. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02858.x · Cited by 32

Tuberous sclerosis complex: a brave new world?

Ess, K. C. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32832c4ff5 · Cited by 33

Defining the Role of Cerebellar Purkinje Cells in Autism Spectrum Disorders

Sudarov, A. (2013) · The Cerebellum · doi:10.1007/s12311-013-0490-y · Cited by 32

Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice

Haji, N., Riebe, I., Aguilar‐Valles, A., Artinian, J., Laplante, I., & Lacaille, J. (2020) · Molecular Autism · doi:10.1186/s13229-020-00340-7 · Cited by 31

Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies

Gruber, V., Lang, J., Endmayr, V., Diehm, R., Pimpel, B., Glatter, S., Anink, J. J., Bongaarts, A., Luinenburg, M. J., Reinten, R. J. A., et al. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12744 · Cited by 29

Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells

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Complex Neurological Phenotype in Mutant Mice LackingTsc2in Excitatory Neurons of the Developing Forebrain

Crowell, B., Lee, G. H., Nikolaeva, I., Pozzo, V. D., & D’Arcangelo, G. (2015) · eNeuro · doi:10.1523/eneuro.0046-15.2015 · Cited by 30

Neuronal mTORC1 Is Required for Maintaining the Nonreactive State of Astrocytes

Zhang, Y., Xu, S., Liang, K., Li, K., Zou, Z., Yang, C., Tan, K., Cao, X., Jiang, Y., Gao, T., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.744482 · Cited by 28

Leucine-Rich Glioma Inactivated 1 Promotes Oligodendrocyte Differentiation and Myelination via TSC-mTOR Signaling

Xie, Y., Zhou, L., Wang, Y., Jiang, N.-W., Cao, S., Shao, C., Wang, X.-T., Li, X., Shen, Y., & Zhou, L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00231 · Cited by 31

Mechanistic target of rapamycin (mTOR) signaling in status epilepticus

Crino, P. B. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.106550 · Cited by 29

Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex

Gataullina, S., Lemaire, É., Wendling, F., Kamińska, A., Françoise Watrin, A., Riquet, A., Ville, D. M., Moutard, M., Martin, A. D. S., Napuri, S., et al. (2016) · Epilepsia · doi:10.1111/epi.13325 · Cited by 29

Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in Tsc-1-Suppressed Brain

Cox, R. L., de Anda, F. C., Mangoubi, T., & Yoshii, A. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00409 · Cited by 29

Comparative analysis ofTsc1andTsc2single and double radial glial cell mutants

Mietzsch, U., McKenna, J. T., Reith, R. M., Way, S. W., & Gambello, M. J. (2013) · The Journal of Comparative Neurology · doi:10.1002/cne.23380 · Cited by 28

Reciprocal control of translation and transcription in autism spectrum disorder

Longo, F., & Klann, E. (2021) · EMBO Reports · doi:10.15252/embr.202052110 · Cited by 29

Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex

Peters, J. M., Prohl, A. K., Kapur, K., Nath, A. R., Scherrer, B., Clancy, S., Prabhu, S. P., Şahin, M., Franz, D. N., Warfield, S. K., et al. (2018) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2018.10.005 · Cited by 28

Selective Tuberous Sclerosis Complex 1 Gene Deletion in Smooth Muscle Activates Mammalian Target of Rapamycin Signaling and Induces Pulmonary Hypertension

Houssaini, A., Abid, S., Dérumeaux, G., Wan, F., Parpaleix, A., Rideau, D., Marcos, É., Kebe, K., Czibik, G., Sawaki, D., et al. (2016) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2015-0339oc · Cited by 27

White matter mean diffusivity correlates with myelination in tuberous sclerosis complex

Peters, J. M., Struyven, R. R., Prohl, A. K., Vasung, L., Stajduhar, A., Taquet, M., Bushman, J. J., Lidov, H., Singh, J. M., Scherrer, B., et al. (2019) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.793 · Cited by 26

Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia

Nardo, A. D., Lenoël, I., Winden, K. D., Rühmkorf, A., Modi, M. E., Barrett, L. B., Ercan-Herbst, E., Venugopal, P., Behne, R., Lopes, C. A. M., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107780 · Cited by 28

Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy

Nguyen, L. H., & Bordey, A. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221098230 · Cited by 21

Before Epilepsy Unfolds: Finding the epileptogenesis switch

Vezzani, A. (2012) · Nature Medicine · doi:10.1038/nm.2982 · Cited by 26

Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice

McMahon, J. J., Yu, W., Yang, J., Feng, H., Helm, M., McMahon, E., Zhu, X. C., Shin, D. S.-H., & Huang, Y. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.10.004 · Cited by 28

mTORC1-S6K Activation by Endotoxin Contributes to Cytokine Up-Regulation and Early Lethality in Animals

Lee, P., Wilhelmson, A. S., Hubner, A. P., Reynolds, S. B., Gallacchi, D. A., Chiou, T. T., & Kwiatkowski, D. J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014399 · Cited by 26

Diet and Energy-Sensing Inputs Affect TorC1-Mediated Axon Misrouting but Not TorC2-Directed Synapse Growth in a Drosophila Model of Tuberous Sclerosis

Dimitroff, B. D., Howe, K. A., Watson, A. L., Campion, B. K., Lee, H.-G., Zhao, N., O’Connor, M. B., Neufeld, T. P., & Selleck, S. B. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030722 · Cited by 25

Spontaneous seizures in a rat model of multiple prenatal freeze lesioning

Kamada, T., Sun, W., Takase, K., Shigeto, H., Suzuki, S. O., Ohyagi, Y., & Kira, J. (2013) · Epilepsy Research · doi:10.1016/j.eplepsyres.2013.03.003 · Cited by 26

A Critical Period for Development of Cerebellar-Mediated Autism-Relevant Social Behavior

Gibson, J. M., Howland, C. P., Ren, C., Howland, C., Vernino, A., & Tsai, P. T. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.1230-21.2021 · Cited by 26

DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting

Yuskaitis, C. J., Modasia, J. B., Schrötter, S., Rossitto, L.-A. M., Groff, K. J., Morici, C., Mithal, D. S., Chakrabarty, R. P., Chandel, N. S., Manning, B. D., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111278 · Cited by 29

Is there a critical period for mossy fiber sprouting in a mouse model of temporal lobe epilepsy?

Lew, F. H., & Buckmaster, P. S. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03315.x · Cited by 25

TSC1/TSC2 inactivation inhibits AKT through mTORC1‐dependent up‐regulation of STAT3‐PTEN cascade

Zha, X., Hu, Z., He, S., Wang, F., Shen, H., & Zhang, H. (2011) · Cancer Letters · doi:10.1016/j.canlet.2011.09.006 · Cited by 25

Superimposing Status Epilepticus on Neuron Subset-Specific PTEN Haploinsufficient and Wild Type Mice Results in Long-term Changes in Behavior

Smith, G. D., White, J., & Lugo, J. N. (2016) · Scientific Reports · doi:10.1038/srep36559 · Cited by 24

Modeling Developmental Brain Diseases Using Human Pluripotent Stem Cells-Derived Brain Organoids – Progress and Perspective

Bhattacharya, A., Choi, W. W. Y., Muffat, J., & Li, Y. (2021) · Journal of Molecular Biology · doi:10.1016/j.jmb.2021.167386 · Cited by 24

Tuberous sclerosis—A model for tumour growth

Dodd, K. M., & Dunlop, E. A. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.01.025 · Cited by 23

Activation of mTORC1 in chondrocytes does not affect proliferation or differentiation, but causes the resting zone of the growth plate to become disordered

Newton, P. T., Xie, M., Medvedeva, E. V., Savendahl, L. S., & Chagin, A. S. (2018) · Bone Reports · doi:10.1016/j.bonr.2018.02.006 · Cited by 23

Exosomal miR-673-5p from fibroblasts promotes Schwann cell-mediated peripheral neuron myelination by targeting the TSC2/mTORC1/SREBP2 axis

Zhao, Y., Liang, Y., Xu, Z., Liu, J., Liu, X., Ma, J., Sun, C., & Yang, Y. (2022) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.101718 · Cited by 22

mTOR and Epileptogenesis in Developmental Brain Malformations

Wong, M., & Crino, P. B. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0065 · Cited by 23

mTOR Pathway – Novel Modulator of Astrocyte Activity

Latacz, A., Russell, J. A., Oclon, E. A., Zubel–Łojek, J., & Pierzchała, K. (2015) · Folia Biologica · doi:10.3409/fb63_2.95 · Cited by 23

Translational research

Khwaja, O., & Şahin, M. (2011) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32834c9251 · Cited by 23

Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders

Suzuki, Â. M., Griesi‐Oliveira, K., Machado, C. D. O. F., Vadasz, E., Zachi, E. C., Passos‐Bueno, M. R., & Sertie, A. L. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.175 · Cited by 23

Role of the PTEN signaling pathway in autism spectrum disorder

Lv, J., Cheng, T., Qiu, Z., & Zhou, W. (2013) · Neuroscience Bulletin · doi:10.1007/s12264-013-1382-3 · Cited by 23

The Small GTPase Rheb Affects Central Brain Neuronal Morphology and Memory Formation in Drosophila

Brown, H. L. D., Kaun, K. R., & Edgar, B. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044888 · Cited by 24

Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca2+ Influx via L-Type Ca2+ Channels

Hisatsune, C., Shimada, T., Miyamoto, A., Lee, A., & Yamagata, K. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-20.2021 · Cited by 22

Atypical Face Processing in Children With Tuberous Sclerosis Complex

Jeste, S., Hirsch, S., Vogel‐Farley, V. K., Noroña, A. N., Navalta, M.-C., Gregas, M., Prabhu, S. P., Şahin, M., & Nelson, C. A. (2012) · Journal of Child Neurology · doi:10.1177/0883073812465122 · Cited by 21

mTORopathies in Epilepsy and Neurodevelopmental Disorders: The Future of Therapeutics and the Role of Gene Editing

Boff, M. O., Xavier, F. A. C., Diz, F. M., Gonçalves, J. B., Ferreira, L. O., Zambeli, J., Pazzin, D. B., Previato, T. T. R., Erwig, H. S., Gonçalves, J. I. B., et al. (2025) · Cells · doi:10.3390/cells14090662 · Cited by 25

Deficiency of Microglial Autophagy Increases the Density of Oligodendrocytes and Susceptibility to Severe Forms of Seizures

Alam, M. M., Zhao, X., Liao, Y., Mathur, R., McCallum, S. E., Mazurkiewicz, J. E., Adamo, M. A., Feustel, P. J., Belin, S., Poitelon, Y., et al. (2021) · eNeuro · doi:10.1523/eneuro.0183-20.2021 · Cited by 21

The role of TSC1 and TSC2 proteins in neuronal axons

Karalis, V., Wood, D., Teaney, N. A., & Sahin, M. (2024) · Molecular Psychiatry · doi:10.1038/s41380-023-02402-7 · Cited by 21

Mouse hippocampal phosphorylation footprint induced by generalized seizures: Focus on ERK, mTORC1 and Akt/GSK-3 pathways

Gangarossa, G., Sakkaki, S., Lory, P., & Valjent, E. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2015.10.051 · Cited by 21

Potential for treatment of severe autism in tuberous sclerosis complex

Gipson, T. (2013) · World Journal of Clinical Pediatrics · doi:10.5409/wjcp.v2.i3.16 · Cited by 21

A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion ofTsc1disrupts ciliary body and iris development

Hägglund, A., Jones, I., & Carlsson, L. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.028605 · Cited by 22

Neonatal and Infantile Epilepsy: Acquired and Genetic ModelsPreprint

Galanopoulou, A. S., & Moshé, S. L. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a022707 · Cited by 22

Deciphering the physiopathology of neurodevelopmental disorders using brain organoids

Dionne, O., Sabatié, S., & Laurent, B. (2024) · Brain · doi:10.1093/brain/awae281 · Cited by 22

AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth

Cormerais, Y., Lapp, S. C., Kalafut, K. C., Cissé, M. Y., Shin, J., Stefadu, B., Personnaz, J., Schrötter, S., Freed, J., D’Amore, A., et al. (2024) · Developmental Cell · doi:10.1016/j.devcel.2025.05.008 · Cited by 24

Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders

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Altered Protein Profiles During Epileptogenesis in the Pilocarpine Mouse Model of Temporal Lobe Epilepsy

Ahmed, M. M., Carrel, A. J., Angel, Y. C. D., Carlsen, J., Thomas, A. X., González, M. I., Gardiner, K., & Brooks‐Kayal, A. R. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.654606 · Cited by 19

Stochastic Model of Tsc1 Lesions in Mouse Brain

Prabhakar, S., Goto, J., Zuang, X., Sena‐Esteves, M., Bronson, R. T., Brockmann, J., Gianni, D., Wojtkiewicz, G. R., Chen, J. W., Stemmer-Rachamimov, A. O., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064224 · Cited by 20

The Tsc1–Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels: Figure 1.Preprint

Wildonger, J., Jan, L. Y., & Jan, Y. N. (2008) · Genes & Development · doi:10.1101/gad.1724108 · Cited by 18

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results

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Disrupted white matter connectivity and organization of brain structural connectomes in tuberous sclerosis complex patients with neuropsychiatric disorders using diffusion tensor imaging

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Animal models and human tissue compared to better understand and treat the epilepsies

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Pathophysiology of Epilepsy in Autism Spectrum Disorders

Stafstrom, C. E., Hagerman, P. J., & Pessah, I. N. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0071 · Cited by 19

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model

Prabhakar, S., Zhang, X., Goto, J., Han, S., Lai, C. P., Bronson, R. T., Sena‐Esteves, M., Ramesh, V., Stemmer-Rachamimov, A. O., Kwiatkowski, D. J., et al. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.04.018 · Cited by 19

mTORC1 Activation by Loss of Tsc1 in Myelinating Glia Causes Downregulation of Quaking and Neurofascin 155 Leading to Paranodal Domain Disorganization

Shi, Q., Saifetiarova, J., Taylor, A. M., & Bhat, M. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00201 · Cited by 19

Early developmental electroencephalography abnormalities, neonatal seizures, and induced spasms in a mouse model of tuberous sclerosis complex

Rensing, N. R., Johnson, K. J., Foutz, T. J., Friedman, J. L., Galindo, R., & Wong, M. (2020) · Epilepsia · doi:10.1111/epi.16495 · Cited by 18

Experimental models of human cortical malformations: from mammals to 'acortical' zebrafish

Costa, F. V., Zabegalov, K. N., Kolesnikova, T. O., de Abreu, M. S., Kotova, M. M., Petersen, E. V., & Kalueff, A. V. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105429 · Cited by 18

Switching on mTORC1 induces neurogenesis but not proliferation in neural stem cells of young mice

Mahoney, C., Feliciano, D. M., Bordey, A., & Hartman, N. W. (2016) · Neuroscience Letters · doi:10.1016/j.neulet.2015.12.042 · Cited by 18

Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment

Vasić, V., Jones, M. S. O., Haslinger, D., Knaus, L. S., Schmeißer, M. J., Novarino, G., & Chiocchetti, A. G. (2021) · Genes · doi:10.3390/genes12111746 · Cited by 17

The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth

Schrötter, S., Yuskaitis, C. J., MacArthur, M. R., Mitchell, S. J., Hosios, A. M., Osipovich, M., Torrence, M. E., Mitchell, J. R., Hoxhaj, G., Şahin, M., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110824 · Cited by 19

The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

Scherrer, B., Prohl, A. K., Taquet, M., Kapur, K., Peters, J. M., Tomas-Fernandez, X., Davis, P. E., Bebin, E. M., Krueger, D. A., Northrup, H., et al. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz233 · Cited by 17

Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis

Koene, L. M. C., Niggl, E., Wallaard, I., Onori, M. P., Rotaru, D. C., & Elgersma, Y. (2021) · JCI Insight · doi:10.1172/jci.insight.150120 · Cited by 17

Unusual Clinical Presentation of Tuberless Tuberous Sclerosis Complex

Kaufmann, R., Kornreich, L., & Goldberg‐Stern, H. (2009) · Journal of Child Neurology · doi:10.1177/0883073808325659 · Cited by 16

Hypoxia-inducible factor 1a is a Tsc1-regulated survival factor in newborn neurons in tuberous sclerosis complex

Feliciano, D. M., Zhang, S., Quon, J. L., & Bordey, A. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt018 · Cited by 16

Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes

D’Amore, A., Sundberg, M., Lin, R., Lubbers, E., Winden, K. D., Yu, L., Gawlińska, K., Gawliński, D., Lopez, S. G., Choe, Y., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02916-2 · Cited by 15

Treatment-Resistant Epilepsy and Tuberous Sclerosis Complex: Treatment, Maintenance, and Future Directions

Singh, A., Hadjinicolaou, A., Peters, J. M., & Salussolia, C. L. (2023) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s347327 · Cited by 18

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

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

Dalal, J. S., Winden, K. D., Salussolia, C. L., Sundberg, M., Singh, A. K., Pham, T. T., Zhou, P., Pu, W. T., Miller, M. T., & Şahin, M. (2021) · eLife · doi:10.7554/elife.67399 · Cited by 15

Importance of EEG in validating the chronic effects of drugs: Suggestions from animal models of epilepsy treated with rapamycin

Cambiaghi, M., Magri, L., & Cursi, M. (2015) · Seizure · doi:10.1016/j.seizure.2015.02.015 · Cited by 14

Deletion of Tsc2 in Nociceptors Reduces Target Innervation, Ion Channel Expression, and Sensitivity to Heat

Carlin, D., Golden, J. P., Mogha, A., Samineni, V. K., Monk, K. R., Gereau, R. W., & Cavalli, V. (2018) · eNeuro · doi:10.1523/eneuro.0436-17.2018 · Cited by 15

Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in dendrites in tuberous sclerosis complex and Alzheimer’s disease

Niere, F., Uneri, A., McArdle, C. J., Deng, Z., Egido-Betancourt, H. X., Cacheaux, L. P., Namjoshi, S. V., Taylor, W. C., Wang, X., Barth, S. H., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2301534120 · Cited by 14

Pharmacotherapy for Seizures in Tuberous Sclerosis Complex

Nabbout, R., Kuchenbuch, M., Chiron, C., & Curatolo, P. (2021) · CNS Drugs · doi:10.1007/s40263-021-00835-8 · Cited by 14

Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

Pignatelli, M., Feligioni, M., Piccinin, S., Molinaro, G., Nicoletti, F., & Nisticò, R. (2013) · Current Pharmaceutical Design · doi:10.2174/1381612811319360008 · Cited by 14

Synaptic Plasticity and Learning in Animal Models of Tuberous Sclerosis Complex

Kirschstein, T. (2012) · Neural Plasticity · doi:10.1155/2012/279834 · Cited by 14

Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complex

Kapfhamer, D., McKenna, J., Yoon, C., Stewart, T. M., Casero, R. A., & Gambello, M. J. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa121 · Cited by 14

A novel mouse model of Tuberous Sclerosis Complex (TSC): eye-specific Tsc1-ablation disrupts visual pathway development

Jones, I., Hägglund, A., Törnqvist, G., Nord, C., Ahlgren, U., & Carlsson, L. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.021972 · Cited by 13

Video-EEG Monitoring Methods for Characterizing Rodent Models of Tuberous Sclerosis and Epilepsy

Rensing, N. R., Guo, D., & Wong, M. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-430-8_24 · Cited by 12

Imaging neural circuit pathology of autism spectrum disorders: autism-associated genes, animal models and the application of in vivo two-photon imaging

Terashima, H., Minatohara, K., Maruoka, H., & Okabe, S. (2021) · Microscopy · doi:10.1093/jmicro/dfab039 · Cited by 15

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

Feliciano, D. M., Su, T. Y., López, J. M., Platel, J., & Bordey, A. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44909 · Cited by 174

Complex Neurological Phenotype in Mutant Mice LackingTsc2in Excitatory Neurons of the Developing Forebrain

Crowell, B., Lee, G. H., Nikolaeva, I., Pozzo, V. D., & D’Arcangelo, G. (2015) · eNeuro · doi:10.1523/eneuro.0046-15.2015 · Cited by 30

Development Complex Neurological Phenotype in Mutant Mice Lacking Tsc2 in Excitatory Neurons of the Developing Forebrain1,2,3

Crowell, B., Lee, G. H., Николаева, И. С., & Pozzo, V. D. (2016)

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin

Carson, R. P., Van Nielen, D. L., Winzenburger, P. A., & Ess, K. C. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.08.024 · Cited by 165

Astrocyte‐specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures

Uhlmann, E. J., Wong, M., Baldwin, R. L., Bajenaru, M. L., Onda, H., Kwiatkowski, D. J., Yamada, K., & Gutmann, D. H. (2002) · Annals of Neurology · doi:10.1002/ana.10283 · Cited by 372