Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

Clement, James P., Aceti, Massimiliano, Creson, Thomas K., Ozkan, Emin D., Shi, Yulin, Reish, Nicholas J., Almonte, Antoine G., Miller, Brooke H. +4 more·2012·Cell

Cited by (385)

Items 101–200 of 385

  1. Low-Dose Perampanel Rescues Cortical Gamma Dysregulation Associated With Parvalbumin Interneuron GluA2 Upregulation in Epileptic Syngap1+/− Mice
    Brennan J. Sullivan, Simon Gashaw Ammanuel, Pavel A. Kipnis, Yoichi Araki, Richard L. Huganir, Shilpa D. Kadam · 2020 · Biological Psychiatry
  2. Rho GTPase-activating proteins: Regulators of Rho GTPase activity in neuronal development and CNS diseases
    Guohui Huang, Zhao-Liang Sun, Hongjiang Li, Dong‐Fu Feng · 2017 · Molecular and Cellular Neuroscience
  3. Molecular mechanisms of synaptogenesis
    Qi, Cai, Luo, Li-Da, Feng, Irena, Ma, Shaojie · 2022 · Frontiers in Synaptic Neuroscience
  4. The autism associated MET receptor tyrosine kinase engages early neuronal growth mechanism and controls glutamatergic circuits development in the forebrain
    Yun Peng, Zhong-Ming Lu, Guohui Li, M. Piechowicz, Miranda R Anderson, Y. Uddin, Jie Wu, Shen-Feng Qiu · 2016 · Molecular Psychiatry
  5. Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
    Exposito-Alonso, David, Rico, Beatriz · 2022 · Annual Review of Genetics
  6. Dendritic Integration Dysfunction in Neurodevelopmental Disorders
    Andrew D. Nelson, Kevin J. Bender · 2021 · Developmental Neuroscience
  7. Expression of non-protein-coding antisense RNAs in genomic regions related to autism spectrum disorders
    Dmitry Velmeshev, Marco Magistri, Mohammad Ali Faghihi · 2013 · Molecular Autism
  8. Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders
    Hyun-Hee Ryu, Yong‐Seok Lee · 2016 · Neurobiology of Learning and Memory
  9. The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
    Monica Weldon, Murat Kılınç, Jimmy Lloyd Holder, Gavin Rumbaugh · 2018 · Journal of Neurodevelopmental Disorders
  10. SynGAP splice variants display heterogeneous spatio‐temporal expression and subcellular distribution in the developing mammalian brain
    Gemma Gou, Adriana Roca‐Fernández, Murat Kılınç, Elena Serrano, Rita Reig‐Viader, Yoichi Araki, Richard L. Huganir, Cristian José de Quintana-Schmidt, Gavin Rumbaugh, Àlex Bayés · 2020 · Journal of Neurochemistry
  11. Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases
    Celina von Stülpnagel, Till Hartlieb, Ingo Borggräfe, Antonietta Coppola, Elena Gennaro, Kirsten Eschermann, Lorenz Kiwull, Felicitas E. Kluger, Ilona Krois, Rikke Steensbjerre Møller et al. · 2018 · Seizure
  12. MET Receptor Tyrosine Kinase as an Autism Genetic Risk Factor
    Peng, Yun, Huentelman, Matthew, Smith, Christopher, Qiu, Shenfeng · 2013 · International Review of Neurobiology
  13. CPEB2 Activates GRASP1 mRNA Translation and Promotes AMPA Receptor Surface Expression, Long-Term Potentiation, and Memory
    Wen-Hsin Lu, Nai-Hsing Yeh, Yi‐Shuian Huang · 2017 · Cell Reports
  14. Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans
    Jamie L. Courtland, Tyler WA Bradshaw, Greg M. Waitt, Erik J. Soderblom, Tricia Ho, Anna Rajab, Ricardo Gomes Vancini, Hwan Kim, Scott H. Soderling · 2021 · eLife
  15. Severe Intellectual Disability and Enhanced Gamma-Aminobutyric Acidergic Synaptogenesis in a Novel Model of Rare RASopathies
    Alessandro Papale, Raffaele d’Isa, Elisabetta Menna, Milica Cerovic, Nicola Solari, Neil R. Hardingham, Marco Cambiaghi, Marco Cursi, Mariano Barbacid, Letizia Leocani et al. · 2016 · Biological Psychiatry
  16. Emerging roles of O-glycosylation in regulating protein aggregation, phase separation, and functions
    Xiang Li, Pinou Lv, Yifei Du, Xing Chen, Cong Liu · 2023 · Current Opinion in Chemical Biology
  17. Investigating mechanisms underlying neurodevelopmental phenotypes of autistic and intellectual disability disorders: a perspective
    T. Kroon, M. C. Sierksma, R. Meredith · 2013 · Frontiers in Systems Neuroscience
  18. DSCAM Deficiency Leads to Premature Spine Maturation and Autism-like Behaviors
    Peng Chen, Ziyang Liu, Qian Zhang, Lin Dong, Lu Song, Jianghong Liu, Huifeng Jiao, Xinsheng Lai, Suqi Zou, Shunqi Wang et al. · 2021 · Journal of Neuroscience
  19. Oxytocin and serotonin in the modulation of neural function: Neurobiological underpinnings of autism-related behavior
    Feng Zhao, Hao Zhang, Peng Wang, Wenjie Cui, Kaiyong Xu, Dan Chen, Minghui Hu, Zifa Li, Xiwen Geng, Sheng Wei · 2022 · Frontiers in Neuroscience
  20. Altered Expression of ARP2/3 Complex Signaling Pathway Genes in Prefrontal Layer 3 Pyramidal Cells in Schizophrenia
    Dibyadeep Datta, Dominique Arion, Kaitlyn M. Roman, David W. Volk, David A. Lewis · 2016 · American Journal of Psychiatry
  21. Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
    Dawicki-McKenna, Jennine M., Felix, Alex J., Waxman, Elisa A., Cheng, Congsheng, Amado, Defne A., Ranum, Paul T., Bogush, Alexey, Dungan, Lea V., Maguire, Jean Ann, Gagne, Alyssa L. et al. · 2023 · Nature Communications
  22. Targeting epigenetic dysregulation in autism spectrum disorders
    Macarena L Herrera, Juan Paraíso‐Luna, Isabel Bustos-Martínez, Ángel Barco · 2024 · Trends in Molecular Medicine
  23. Genetic Demonstration of a Role for Stathmin in Adult Hippocampal Neurogenesis, Spinogenesis, and NMDA Receptor-Dependent Memory
    Guillaume Martel, Shusaku Uchida, Charles Hevi, Itzamarie Chévere-Torres, Ileana Fuentes, Young Jin Park, Hannah Hafeez, Hirotaka Yamagata, Yoshifumi Watanabe, Gleb P. Shumyatsky · 2016 · Journal of Neuroscience
  24. Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
    Huang, Wei-Hsiang, Wang, David C., Allen, William E., Klope, Matthew, Hu, Hailan, Shamloo, Mehrdad, Luo, Liqun · 2018 · Proceedings of the National Academy of Sciences
  25. Critical aspects of neurodevelopment
    Ranabir Chakraborty, Manjeet Kumar, James Premdoss Clement · 2021 · Neurobiology of Learning and Memory
  26. δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions
    Li Yuan, Eunju Seong, James L. Beuscher, Jyothi Arikkath · 2015 · Journal of Biological Chemistry
  27. Camkii-Mediated Phosphorylation Regulates Distributions of Syngap-α1 and –α2 at the Postsynaptic Density
    Yang, Yijung, Tao-Cheng, Jung-Hwa, Bayer, K. Ulrich, Reese, Thomas S., Dosemeci, Ayse · 2013 · PLoS ONE
  28. Nanoscale synapse organization and dysfunction in neurodevelopmental disorders
    Hanna L. Zieger, Daniel Choquet · 2021 · Neurobiology of Disease
  29. ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function
    Wei Ba, Martijn M. Selten, J. van der Raadt, H. van Veen, Lili Li, M. Benevento, Astrid R. Oudakker, R.S.E. Lasabuda, Stef J.F. Letteboer, Ronald Roepman et al. · 2016 · Cell Reports
  30. SYNGAP1-DEE: A visual sensitive epilepsy
    Tommaso Lo Barco, Anna Kamińska, Roberta Solazzi, Claude Cancés, Giulia Barcia, Nicole Chémaly, Elena Fontana, Isabelle Desguerre, Laura Canafoglia, C. Hachon Le Camus et al. · 2021 · Clinical Neurophysiology
  31. γ-secretase promotes Drosophila postsynaptic development through the cleavage of a Wnt receptor
    Lucas J. Restrepo, Alison T. DePew, Elizabeth R. Moese, Stephen R. Tymanskyj, Michael J Parisi, Michael A. Aimino, Juan Carlos Duhart, Hong Fei, Timothy J. Mosca · 2022 · Developmental Cell
  32. CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny
    Assendorp, Nora, Fossati, Matteo, Libé-Philippot, Baptiste, Christopoulou, Eirini, Depp, Marine, Rapone, Roberta, Dingli, Florent, Loew, Damarys, Vanderhaeghen, Pierre, Charrier, Cécile · 2024 · Cell Reports
  33. Windows of opportunity: timing in neurodevelopmental disorders
    Alexandra Krol, Guoping Feng · 2017 · Current Opinion in Neurobiology
  34. Linking Autism Risk Genes to Disruption of Cortical Development
    Marta García-Forn, Andrea Boitnott, Zeynep Akpinar, Silvia De Rubeis · 2020 · Cells
  35. MicroRNAs and Synaptic Plasticity: From Their Molecular Roles to Response to Therapy
    Amir Hossein Mohammadi, Seyedvahid Seyedmoalemi, Mahsa Moghanlou, Seyed Amirreza Akhlagh, Sayyed Alireza Talaei, Michael Richard Hamblin, Ameneh Jafari, Hamed Mirzaei · 2022 · Molecular Neurobiology
  36. Molecular mechanisms for targeted ASD treatments
    Bernadette Basilico, Jasmin Morandell, Gaia Novarino · 2020 · Current Opinion in Genetics & Development
  37. Current Best Practices for Analysis of Dendritic Spine Morphology and Number in Neurodevelopmental Disorder Research
    Ben‐Zheng Li, Anna Sumera, Sam A. Booker, Elizabeth A. McCullagh · 2023 · ACS Chemical Neuroscience
  38. Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions
    Yudong Gao, Daichi Shonai, Matthew Trn, Jieqing Zhao, Erik J. Soderblom, S. Alexandra Garcia-Moreno, Charles A. Gersbach, William C. Wetsel, Géraldine Dawson, Dmitry Velmeshev et al. · 2024 · Nature Communications
  39. Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia
    Xinglun Dang, Zhaowei Teng, Yongfeng Yang, Wenqiang Li, Jiewei Liu, Li Hui, Dong-Sheng Zhou, Daohua Gong, Shan-Shan Dai, Yifan Li et al. · 2025 · Nature Human Behaviour
  40. Abnormal repetitive behaviors in zebrafish and their relevance to human brain disorders
    Konstantin N. Zabegalov, Sergey L. Khatsko, Anton M. Lakstygal, Konstantin A. Demin, Madeleine Cleal, Barbara Dotto Fontana, Sebastian D. McBride, Brian Herbert Harvey, Murilo S. de Abreu, Matthew O. Parker et al. · 2019 · Behavioural Brain Research
  41. Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection
    Murat Kilinc, Vineet Arora, Thomas K. Creson, Camilo Rojas, Aliza A. Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich et al. · 2022 · eLife
  42. Human Variants in the Neuronal Basic Helix-Loop-Helix/Per-Arnt-Sim (bHLH/PAS) Transcription Factor Complex NPAS4/ARNT2 Disrupt Function
    David C. Bersten, John B. Bruning, Daniel J. Peet, Murray L. Whitelaw · 2014 · PLoS ONE
  43. High-throughput sequencing of the synaptome in major depressive disorder
    Mehdi Pirooznia, T Wang, Dimitrios Avramopoulos, James B. Potash, Peter P. Zandi, Fernando S. Goes · 2015 · Molecular Psychiatry
  44. Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies
    Kenneth Alexis Myers, Ingrid Eileen Scheffer · 2021 · The Annual Review of Pharmacology and Toxicology
  45. Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency
    Maria Isabel Carreño-Muñoz, Bidisha Chattopadhyaya, Kristian Agbogba, Valérie Côté, Siyan Wang, Maxime Lévesque, Massimo Avoli, Jacques L. Michaud, Sarah Lippé, Graziella Di Cristo · 2021 · Brain
  46. Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins <scp>SYNGAP1</scp>, <scp>NLGN3</scp>, <scp>DLGAP1</scp>, <scp>DLGAP2</scp> and <scp>SHANK2</scp>
    Horner, Alexa E., Norris, Rebecca H., McLaren‐Jones, Robbie, Alexander, Liam, Komiyama, Noboru H., Grant, Seth G. N., Nithianantharajah, Jess, Kopanitsa, Maksym V. · 2021 · Genes, Brain and Behavior
  47. Deep and Precise Quantification of the Mouse Synaptosomal Proteome Reveals Substantial Remodeling during Postnatal Maturation
    Kaja Ewa Moczulska, Peter Pichler, Michael Schutzbier, Alexander Schleiffer, Simon Rumpel, Karl Mechtler · 2014 · Journal of Proteome Research
  48. SYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo
    Vermaercke, Ben, Iwata, Ryohei, Wierda, Keimpe, Boubakar, Leïla, Rodriguez, Paula, Ditkowska, Martyna, Bonin, Vincent, Vanderhaeghen, Pierre · 2024 · Neuron
  49. Alterations in neuronal cytoskeletal and astrocytic proteins content in the brain of the autistic-like mouse strain C58/J
    Isabel Barón-Mendoza, Octavio Garcı́a, Erika Calvo‐Ochoa, Jorge Omar Rebollar-García, Daniel Garzón-Cortés, Reyes Haro, Aliesha González‐Arenas · 2018 · Neuroscience Letters
  50. Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder
    Sukanya Chakraborty, Rrejusha Parayil, Shefali Mishra, Upendra Nongthomba, James Premdoss Clement · 2022 · International Journal of Molecular Sciences
  51. Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics
    John J. Maurer, Ashley Choi, Isabella An, Nicholas Sathi, Shinjae Chung · 2023 · Neurobiology of Sleep and Circadian Rhythms
  52. Overview of genetic models of autism spectrum disorders
    Jheel Patel, Jodi L. Lukkes, Anantha Shekhar · 2018 · Progress in brain research
  53. Disruption of SynGAP–dopamine D1 receptor complexes alters actin and microtubule dynamics and impairs GABAergic interneuron migration
    Ping Su, Terence K.Y. Lai, Frankie H. F. Lee, Andrew R. Abela, Paul J. Fletcher, Fang Liu · 2019 · Science Signaling
  54. CNS critical periods: implications for dystonia and other neurodevelopmental disorders
    Jay Li, Sumin Kim, Samuel S. Pappas, William T. Dauer · 2021 · JCI Insight
  55. Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1
    Valérie Côté, Ève Lalancette, Inga Sophia Knoth, Lucie Côté, Kristian Agbogba, Phetsamone Vannasing, Philippe Major, Fanny Barlaam, Jacques L. Michaud, Sarah Lippé · 2020 · Brain Research
  56. Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
    Sonia Mayo, Irene Gómez-Manjón, Fco. Javier Fernández-Martínez, Ana Camacho, Francisco Martı́nez, Julián Benito‐León · 2021 · International Journal of Molecular Sciences
  57. Early and Late Corrections in Mouse Models of Autism Spectrum Disorder
    Changuk Chung, Wangyong Shin, Eunjoon Kim · 2021 · Biological Psychiatry
  58. Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1+/− mice
    Maksym V. Kopanitsa, Gemma Gou, Nurudeen O. Afinowi, Àlex Bayés, Seth G. N. Grant, Noboru H. Komiyama · 2018 · Pharmacological Reports
  59. Catastrophic Epilepsies of Childhood
    MacKenzie Allen Howard, Scott C. Baraban · 2017 · Annual Review of Neuroscience
  60. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum
    Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré, Carme Brun i Gasca, Jana Domínguez‐Carral, Verónica Delgadillo, Steven Laurie, Sophia V. Derdak, Natàlia Padilla, Xavier de la Cruz et al. · 2021 · PLoS ONE
  61. Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition
    Libé-Philippot, Baptiste, Iwata, Ryohei, Recupero, Aleksandra J., Wierda, Keimpe, Bernal Garcia, Sergio, Hammond, Luke, van Benthem, Anja, Limame, Ridha, Ditkowska, Martyna, Beckers, Sofie et al. · 2024 · Neuron
  62. Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
    Fabian Meili, William Wei, Wun‐Chey Sin, Warren M. Meyers, Iulia Dascalu, Daniel B. Callaghan, Sanja Rogić, Paul Pavlidis, Kurt Z. Haas · 2020 · The American Journal of Human Genetics
  63. Reduced Levels of miR-342-5p in Plasma Are Associated With Worse Cognitive Evolution in Patients With Mild Alzheimer’s Disease
    Farida Dakterzada, Ivan David Benitez, Adriano Targa, Albert Lladó, Gerard Torres, Leila Romero, David de Gonzalo‐Calvo, Anna Moncusí‐Moix, Adrià Tort‐Merino, Raquel P Huerto et al. · 2021 · Frontiers in Aging Neuroscience
  64. Gene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?
    Jenna C. Carpenter, Gabriele Lignani · 2021 · Neurotherapeutics
  65. Mouse models of SYNGAP1 -related intellectual disability
    Yoichi Araki, Elizabeth E. Gerber, Kacey E. Rajkovich, Ingie Hong, Richard C. Johnson, Hey‐Kyoung Lee, Alfredo Kirkwood, Richard L. Huganir · 2023 · Proceedings of the National Academy of Sciences
  66. Anchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation
    Menglong Zeng, Guanhua Bai, Mingjie Zhang · 2017 · Small GTPases
  67. Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion
    Hung-Chi Lu, Alea A. Mills, Di Tian · 2017 · Journal of Neurophysiology
  68. Differential Regulation of Syngap1 Translation by FMRP Modulates eEF2 Mediated Response on NMDAR Activity
    Abhik Paul, Bharti Nawalpuri, Devanshi R. Shah, Shruthi Sateesh, Ravi Sondekoppa Muddashetty, James Premdoss Clement · 2019 · Frontiers in Molecular Neuroscience
  69. Animal models for neuropsychiatric disorders: prospects for circuit intervention
    Tobias Kaiser, Yang Zhou, Guoping Feng · 2017 · Current Opinion in Neurobiology
  70. Defective Synapse Maturation and Enhanced Synaptic Plasticity in Shank2 Δex7 –/– Mice
    Stephanie Wegener, Arne Buschler, A. Vanessa Stempel, SukJae Joshua Kang, Chae‐Seok Lim, Bong‐Kiun Kaang, Sarah A. Shoichet, Denise Manahan‐Vaughan, Dietmar Schmitz · 2018 · eNeuro
  71. The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors
    Lian-Feng Lin, Quanwei Lyu, Pui‐Yi Kwan, Junjun Zhao, Ruolin Fan, Anping Chai, Cora Sau Wan Lai, YS Chan, Xuting Shen, Kwok‐On Lai · 2020 · PLoS Genetics
  72. Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus
    Fatemeh Hassani Nia, Daniel Woike, Victoria Martens, Malte Klüssendorf, Hans‐Hinrich Hönck, Sönke Harder, Hans‐Jürgen Kreienkamp · 2020 · Molecular Autism
  73. Elucidation of Abnormal Extracellular Regulated Kinase (ERK) Signaling and Associations with Syndromic and Non-syndromic Autism
    Aarti Tiwari, Saloni Rahi, Sidharth Mehan · 2020 · Current Drug Targets
  74. mTOR-Dependent Spine Dynamics in Autism
    Shabani Chaudry, Nandini Vasudevan · 2022 · Frontiers in Molecular Neuroscience
  75. Role of age and neuroinflammation in the mechanism of cognitive deficits in sickle cell disease
    Raven A. Hardy, Noor Abi Rached, Jayre A. Jones, David R. Archer, Hyacinth I. Hyacinth · 2020 · Experimental Biology and Medicine
  76. Differential impact of Met receptor gene interaction with early-life stress on neuronal morphology and behavior in mice
    Hanke Heun‐Johnson, Pat R. Levitt · 2017 · Neurobiology of Stress
  77. RAS pathway: The new frontier of brain mosaicism in epilepsy
    Sahibjot Sran, Tracy A. Bedrosian · 2023 · Neurobiology of Disease
  78. Enhancing cognition through pharmacological and environmental interventions: Examples from preclinical models of neurodevelopmental disorders
    Lorenzo Morè, Julie C. Lauterborn, Francesco Papaleo, Riccardo Brambilla · 2019 · Neuroscience & Biobehavioral Reviews
  79. Dysregulation of translational control signaling in autism spectrum disorders
    Mehdi Hooshmandi, Calvin Wong, Arkady Khoutorsky · 2020 · Cellular Signalling
  80. Hyperactive MEK1 Signaling in Cortical GABAergic Neurons Promotes Embryonic Parvalbumin Neuron Loss and Defects in Behavioral Inhibition
    Michael C. Holter, Lauren T. Hewitt, Kenji J. Nishimura, Sara J. Knowles, George R. Bjorklund, Shiv Shah, Noah Fry, Katherina P. Rees, Tanya A. Gupta, Carter W. Daniels et al. · 2020 · Cerebral Cortex
  81. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders
    Hoang T Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M Huckins, Ana B. Muñoz‐Manchado, Douglas M Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
  82. Syngap1 regulates experience-dependent cortical ensemble plasticity by promoting in vivo excitatory synapse strengthening
    Nerea Llamosas, Sheldon D. Michaelson, Thomas Vaissière, Camilo Rojas, Courtney A. Miller, Gavin Rumbaugh · 2021 · Proceedings of the National Academy of Sciences
  83. Prioritizing the development of mouse models for childhood brain disorders
    Kevin K. Ogden, Emin D. Ozkan, Gavin Rumbaugh · 2015 · Neuropharmacology
  84. Experimental febrile seizures induce age-dependent structural plasticity and improve memory in mice
    Kentaro Tao, Junya Ichikawa, Norio Matsuki, Yuji Ikegaya, Ryuta Koyama · 2016 · Neuroscience
  85. Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients
    Fatemeh Hassani Nia, Hans‐Jürgen Kreienkamp · 2018 · Frontiers in Molecular Neuroscience
  86. Age, brain region, and gene dosage-differential transcriptomic changes in Shank3-mutant mice
    Taesun Yoo, Ye-Eun Yoo, Hyojin Kang, Eunjoon Kim · 2022 · Frontiers in Molecular Neuroscience
  87. Receptor Tyrosine Kinase MET Interactome and Neurodevelopmental Disorder Partners at the Developing Synapse
    Zhihui Xie, Jing Li, Jonathan Scott Baker, Kathie L. Eagleson, Marcelo P. Coba, Pat R. Levitt · 2016 · Biological Psychiatry
  88. Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment
    Verica Vasić, Mattson S. O. Jones, Denise Haslinger, Lisa S. Knaus, Michael J. Schmeißer, Gaia Novarino, Andreas G. Chiocchetti · 2021 · Genes
  89. Suppressed prefrontal neuronal firing variability and impaired social representation in IRSp53-mutant mice
    Woohyun Kim, Jae Jin Shin, Yu Jin Jeong, Kyungdeok Kim, Jung Won Bae, Young Woo Noh, Seungjoon Lee, Woochul Choi, Se‐Bum Paik, Min Whan Jung et al. · 2022 · eLife
  90. Neurodevelopmental defects in a mouse model of O- GlcNAc transferase intellectual disability
    Florence Authier, Nina Ondrušková, Andrew T. Ferenbach, Alison D. McNeilly, Daan M. F. van Aalten · 2024 · Disease Models & Mechanisms
  91. Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model
    Robert A. Kozol · 2018 · Journal of Developmental Biology
  92. Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size
    Nicholas J. F. Gatford, P. J. Michael Deans, Rodrigo R. R. Duarte, George Chennell, Katherine J. Sellers, Pooja Raval, Deepak P. Srivastava · 2021 · Human Molecular Genetics
  93. Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders
    Nicolas Marotta, Michael J. Boland, Benjamin L. Prosser · 2024 · Current problems in pediatric and adolescent health care
  94. Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Sarfaraz Nawaz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier et al. · 2024 · Molecular Autism
  95. Convergent synaptic and circuit substrates underlying autism genetic risks
    Aaron W. McGee, Guohui Li, Zhongming Lu, Shenfeng Qiu · 2014 · Frontiers in Biology
  96. Genetic and activity dependent-mechanisms wiring the cortex: Two sides of the same coin
    Lorena Bragg-Gonzalo, Noelia S. de León-Reyes, Marta Nieto · 2021 · Seminars in Cell and Developmental Biology
  97. Dissociation of SYNGAP1 enzymatic and structural roles: Intrinsic excitability and seizure susceptibility
    Julia Brill, Blaise Alexander Clarke, Ingie Hong, Richard L. Huganir · 2025 · Proceedings of the National Academy of Sciences
  98. A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletion in a subpopulation of brainstem neurons
    Andrew J. Holley, Aleya Shedd, Anna E. Boggs, Jonathan W. Lovelace, Craig A. Erickson, Christina Groß, Miranda J. Jankovic, Khaleel A. Razak, Kimberly M. Huber, Jay R. Gibson · 2022 · Neurobiology of Disease
  99. Interneuron-Targeted Disruption ofSYNGAP1Alters Sensory Representations in the Neocortex and Impairs Sensory Learning
    Meiling Zhao, Sung Eun Kwon · 2023 · Journal of Neuroscience
  100. Adult Phenotype of SYNGAP1 -DEE
    Marlene Rong, Tim A. Benke, Quratulain Zulfiqar Ali, Ángel Aledo‐Serrano, Allan Bayat, Alessandra Rossi, Orrin Devinsky, Farah Qaiser, Anum Ali, Alfonso A. Fasano et al. · 2023 · Neurology Genetics