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
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Items 301–385 of 385
- Disruption of the SYNGAP1 PDZ ligand motif accelerates differentiation of human iPSC-derived GABAergic neuronsJ. P. Jiang, Ruslan Rust, Ilse Flores, Yaowen Feng, Peyman Nouri, Veronica A. Clementel, Amir Arya, Ali Basirattalab, Ivy Y. Yang, Antigoni Manousopoulou et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Modeling phase separation dynamics of SynGAP and PSD-95 in postsynaptic densitiesSarah Sakly, Gregory D. Smith · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature reviewXingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong · 2023 · Acta Epileptologica
- A consequence of immature breathing induces persistent changes in hippocampal synaptic plasticity and behavior: a role of prooxidant state and NMDA receptor imbalanceAlejandra Arias‐Cavieres, Alfredo J. Garcia · 2023 · Frontiers in Molecular Neuroscience
- Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen databaseMatthew R. Scott, Albert L. Misko, Yang Liu, Oleksandr Sverdlov · 2025 · Orphanet Journal of Rare Diseases
- De novo frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case reportShuang-Zhu Lin, Yangfan Qi, Hongyan Xie, Xiaoyu Sun, Wanqi Wang, Kai Jiang · 2025 · Frontiers in Pediatrics
- Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomaliesSarani Dey, Abhijit Das · 2026 · Brain Research
- A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disordersMariya Yu. Bobylova, Mikhail Borisovich Mironov, A.V. Kulikov, М. В. Казакова, Богачева, Yu.A. Tankevich, L. Yu. Glukhova, Е. И. Барлетова, M. O. Abramov, К. Yu. Мukhin et al. · 2014 · Neurology neuropsychiatry Psychosomatics
- A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autismN. N. Savelieva, Albina V. Yakunina, Irina Evgenyevna Poverennova · 2018 · Neurology neuropsychiatry Psychosomatics
- Nature and Nurture Converge in the Nucleus to Regulate Activity-Dependent Neuronal DevelopmentJacqueline R. Thompson, Yingxi Lin · 2024 · Springer eBooks
- Rodent Models for ASD Biomarker DevelopmentHenry H.C. Lee, Mustafa Şahin · 2024 · Advances in neurobiology
- SYNGAP1: The Gene and SyndromeDerek Witzig, Het Patel, Ingie Hong, Siddarth Datta Gupta, Richard L. Huganir, Constance L. Smith‐Hicks · 2024 · Springer eBooks
- Metabolic Association Between the Gut–Brain Axis in Autism Spectrum DisordersM. Delgado, A. Fochesato, L. Juncos, P. Gargiulo · 2017 · Springer eBooks
- Demystifying neuroscience laboratory techniques used to investigate single-gene disordersLindsay A. M. Mizen, Andrew C. Stanfield · 2020 · BJPsych Advances
- SYNGAP1 mutation in a pediatric patient with autism spectrum disorder and intellectual disabilityFatih Hilmi Çetin · 2020 · Dusunen Adam The Journal of Psychiatry and Neurological Sciences
- Specific Functions of ERK/MAPK Signaling in Brain Development and NeurocognitionMichael C. Holter · 2019
- GABAergic signaling promotes early-life seizures in epileptic SYNGAP1 +/- miceBrennan J. Sullivan, Pavel A. Kipnis, Simon G. Ammanuel, Shilpa D. Kadam · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Reversing GABA polarity corrects synaptic physiology and behavioural deficits in young adolescent Syngap1+/- miceVijaya Verma, MJ Vijay Kumar, Kavita Sharma, Sridhar Rajaram, Ravi Sondekoppa Muddashetty, Ravi R. Manjithaya, Thomas Behnisch, James Premdoss Clement · 2021 · Research Square
- Synaptic DisordersCatalina Betancur, Kevin J. Mitchell · 2015 · Wiley eBooks
- Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutationsJill L. Silverman, Timothy Fenton, Olivia Y Haouchine, Elizabeth Hallam, Emily Smith, Kiya C. Jackson, Darlene Rahbarian, César P. Canales, Anna Adhikari, Alex S. Nord et al. · 2023 · Research Square
- Behavioural and neurodevelopmental characteristics of SYNGAP1Nadja F. Bednarczuk, Harriet Housby, Irene Lee, David Skuse, Jeanne Wolstencroft · 2023 · Research Square
- Epigenetic Modulation to perturb the SYNGAP1 Intellectual Disability (ID) that ameliorates synaptic and behavioural deficitsAkash Kumar Singh, Ila Joshi, Neeharika M. N. Reddy, Sushmitha S. Purushotham, Muthusamy Eswaramoorthy, Madavan Vasudevan, Sourav Banerjee, J. P Clement, Tapas Kumar Kundu · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortexRuggiero Francavilla, Bidisha Chattopadhyaya, Jorelle Linda Damo Kamda, Vidya Jadhav, Saı̈d Kourrich, Jacques L. Michaud, Graziella Di Cristo · 2024 · eLife
- Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortexRuggiero Francavilla, Bidisha Chattopadhyaya, Jorelle Linda Damo Kamda, Vidya Jadhav, Saı̈d Kourrich, Jacques L. Michaud, Graziella Di Cristo · 2024 · eLife
- Intrabody-guided synapse proteomics defines pyramidal neuron input architecture and uncovers early remodeling in a mouse model of Alzheimer’s diseaseDan Dascenco, Gabriele Marcassa, Anastasia Mallopoulou, Jeroen Vandensteen, L. J. LeFever, Elke Leysen, Blanca Lorente-Echeverría, Artemis Koumoundourou, Danie Daaboul, Bart Ghesquière et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic interventionLucas M. James, Carlee A. Friar, Siyuan Liang, Eric B. Gao, Alain. C Burette, Benjamin D. Philpot · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Synaptic networks shape clinical phenotypes in neurodevelopmental disorders: An integrative clinical, genetic and biological perspectiveJuliana Ribeiro‐Constante, Júlia Romagosa, Alfonso Oyarzábal, Enric X. Martin Rull, Àngels García‐Cazorla · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Concordant transcriptional and morphological remodeling revealed by in vivo Perturb-CLEARBoli Wu, Sean Simmons, Seoyeon Kim, Jiwen Li, Masood A. Akram, Chang Sin Park, Xinhe Zheng, Iain Mendez, Sasha Patel, Alan Chau et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERSMariya Yu. Bobylova, M. B. Mironov, M. O. Abramov, Anatoly Kulikov, М. В. Казакова, L. Yu. Glukhova, Е. И. Барлетова, К. Yu. Мukhin · 2015 · Russian Journal of Child Neurology
- Study of candidate genes to Autism Spectrum DisordersSão Paulo · 2013
- Changes in Synaptic Protein Content and Signaling in a Mouse Model of Fragile X SyndromeKelly Birch · 2016
- Examining Dynamic Aspects of Presynaptic Terminal Formation via Live Confocal MicroscopyLuke A. D. Bury · 2015 · OhioLink ETD Center (Ohio Library and Information Network)
- Characteristics of cellular and synaptic function in rodent forebrain neurons with altered SynGAP expressionLindsay A. M. Mizen · 2018 · ERA
- An analysis of genetic variants associated with autism spectrum disorderDaniel B. Callaghan · 2018 · cIRcle (University of British Columbia)
- Translational regulation of Syngap1 by FMRP modulates NMDAR mediated signallingAbhik Paul, Bharti Nawalpuri, Shruthi Sateesh, Ravi Sondekoppa Muddashetty, James Premdoss Clement · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Genetic Mutations Associated with Autism Disrupt Higher Visual Cortical Area Development and Function in MiceTownsend, Leah · 2019 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
- Splicing of the SynGAP Carboxyl-Terminus Enables Isoform-Specific Tuning of NMDA Receptor Signaling Linked to Cognitive FunctionMurat Kılınç, Thomas K. Creson, Camilo Rojas, Sabyasachi Maity, Aliza A. Le, Julie C. Lauterborn, Brent Wilkinson, Nicolas G. Hartel, Nicholas Alexander Graham, Adrian M. Reich et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Age and neuroinflammation are important components of the mechanism of cognitive and neurobehavioral deficits in sickle cell diseaseRaven A. Hardy, Noor Abi Rached, Jayre A. Jones, David R. Archer, Hyacinth I. Hyacinth · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Syngap1 Dynamically Regulates the Fine-Scale Reorganization of Cortical Circuits in Response to Sensory ExperienceNerea Llamosas, Thomas Vaissière, Camilo Rojas, Sheldon D. Michaelson, Courtney A. Miller, Gavin Rumbaugh · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Protein-protein Interactions Provide a Platform for G-protein-coupled Receptors to Exert Physiological and Pathological Functions in Central Nervous System: Therapeutic Potential?Terence K.Y. Lai · 2019 · TSpace (University of Toronto)
- SYNGAP1 and Its Related Epileptic SyndromesMaria Teresa Garozzo, Daniela Caruso, Flavia Mendola, Alessandra Di Nora, Katia Romano, Roberta Leonardi, Raffaele Falsaperla, Antonio Zanghì, Andrea D. Praticò · 2021 · Journal of Pediatric Neurology
- c-Jun NH2-terminal kinase signaling controls cellular mechanisms of guided cortical interneuron migrationSkye E. Smith · 2020
- When neurons mature too early2012 · Nature
- Excessive Cap-dependent Translation as a Molecular Mechanism Underlying ASDEric Klann · 2014 · Defense Technical Information Center (DTIC)
- Faculty Opinions recommendation of Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP.Johannes Wilhelm Hell · 2015 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Functional Roles of Syngap1 in Early Embryonic Development of ZebrafishBing Zou · 2014
- Adult Camk2a Gene Reinstatement Restores the Learning and Plasticity Deficits of Camk2a Knockout MicePomme M.F. Rigter, Ilse Wallaard, Mehrnoush Aghadavoud Jolfaei, Jenina Kingma, Laura C. Post, Minetta Elgersma, Ype Elgersma, Geeske M. van Woerden · 2022 · SSRN Electronic Journal
- Interneuron-targeted disruption of SYNGAP1 alters sensory representations in neocortex and impairs sensory learningMeiling Zhao, Sung Eun Kwon · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Epigenomic tomography for probing spatially-defined molecular state in the brainZhengzhi Liu, Chengyu Deng, Zirui Zhou, Ya Xiao, Shan Jiang, Bohan Zhu, Lynette B. Naler, Xiaoting Jia, Danfeng Daphne Yao, Chang Lu · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Elucidating the molecular pathology of DEPDC5 mutation induced mTOR-hyperactivation associated with epilepsy and autism spectrum disorderMattson Jones · 2022
- A Consequence of Immature Breathing induces Persistent Changes in Hippocampal Synaptic Plasticity and Behavior: A Role of Pro-Oxidant State and NMDA Receptor ImbalanceAlejandra Arias‐Cavieres, Alfredo J. Garcia · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsyPardis Najafi, Christian Reimer, Jonathan D. Gilthorpe, Kirsten Rosenmay Jacobsen, Maja Ramløse, Nora‐Fabienne Paul, Henner Simianer, Jens Tetens, Clemens Falker‐Gieske · 2024 · Neurogenetics
- Novel de novo intronic variant of SYNGAP1 associated with the neurodevelopmental disordersBaoqiong Liao, Wuming Xie, Mei Shuai, Rutian Liu, Qi Zhang, Min Hong, Shuwen He · 2024 · Research Square
- Epileptic encephalopathy, autism and cognitive deficit caused by the SYNGAP1 gene mutationRimma Gamirova, Забирова Карина Ришатовна, Elena Anatol’evna Gorobets, A. R. Safina, L. R. Samoilova, S. Ya. Volgina · 2024 · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
- Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan, Zornitza Stark, Natasha J. Brown, Sajel Lala Kana, Anabelle Tuttle et al. · 2025 · medRxiv
- Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosisDoaa Maamoun Ashour, Reem Mohsen, Rahma Ahmed Elziaty, Omnia Bahaa Attia, Haytham Samy Diab, Caroline Atef Tawfik · 2025 · Journal of Ophthalmic Inflammation and Infection
- Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortexRuggiero Francavilla, Bidisha Chattopadhyaya, Jorelle Linda Damo Kamda, Vidya Jadhav, Saı̈d Kourrich, Jacques L. Michaud, Graziella Di Cristo · 2025 · eLife
- Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental DisordersAleksandra Jezela‐Stanek, Tomasz Skalski, Karolina Chwiałkowska · 2025 · Research Square
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- Detrended Fluctuation Analysis to Assess Long-Range Temporal Correlations in EEG from SYNGAP1-Related DisorderNoshin Tasnia, Laycee Cordell, Siddharth S. Gupta, Aida Doucoure, Arie Nakhmani, Constance L. Smith‐Hicks, Rachel June Smith · 2025 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
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- Additional file 5 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
- Additional file 1 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
- Additional file 2 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
- Additional file 4 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
- Additional file 3 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
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