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Page 1
SYNGAP1-Related Intellectual Disability.
Holder JL Jr, Hamdan FF, Michaud JL. Holder JL Jr, et al. 2019 Feb 21 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2019 Feb 21 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 30789692 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other beha …
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or …
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.
Yang R, Feng X, Arias-Cavieres A, Mitchell RM, Polo A, Hu K, Zhong R, Qi C, Zhang RS, Westneat N, Portillo CA, Nobrega MA, Hansel C, Garcia Iii AJ, Zhang X. Yang R, et al. Neuron. 2023 May 17;111(10):1637-1650.e5. doi: 10.1016/j.neuron.2023.02.021. Epub 2023 Mar 13. Neuron. 2023. PMID: 36917980 Free PMC article.
How SYNGAP1 is regulated during development and how to treat SYNGAP1-associated haploinsufficiency remain challenging questions. ...We demonstrate that PTBP1/2 directly bind to and promote SYNGAP1 A3SS inclusion. Genetic deletion of the Syngap1 A3SS in …
How SYNGAP1 is regulated during development and how to treat SYNGAP1-associated haploinsufficiency remain challenging question …
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chrom …
OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patients …
SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.
Agarwal M, Johnston MV, Stafstrom CE. Agarwal M, et al. Int J Dev Neurosci. 2019 Nov;78:65-76. doi: 10.1016/j.ijdevneu.2019.08.003. Epub 2019 Aug 24. Int J Dev Neurosci. 2019. PMID: 31454529 Review.
SYNGAP1 is a gene that encodes the cytosolic protein SYNGAP1 (SYNaptic GTPase Activating Protein), an essential component of the postsynaptic density at excitatory glutamatergic neurons. SYNGAP1 plays critical roles in synaptic development, structure, functio …
SYNGAP1 is a gene that encodes the cytosolic protein SYNGAP1 (SYNaptic GTPase Activating Protein), an essential component of t …
SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft.
Cunnane KA, Miskimen AC, Arnesen RA, Grinspan ZM. Cunnane KA, et al. Pediatr Neurol. 2025 Aug;169:105-114. doi: 10.1016/j.pediatrneurol.2025.05.017. Epub 2025 May 16. Pediatr Neurol. 2025. PMID: 40494056 Review.
BACKGROUND: SYNGAP1 is a heterogeneous genetic disorder associated with intellectual disability, infantile-onset seizures, and other neurological and somatic symptoms. ...METHODS: We developed a disease concept model for SYNGAP1 via five exercises: a scoping review …
BACKGROUND: SYNGAP1 is a heterogeneous genetic disorder associated with intellectual disability, infantile-onset seizures, and other …
Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.
Birtele M, Del Dosso A, Xu T, Nguyen T, Wilkinson B, Hosseini N, Nguyen S, Urenda JP, Knight G, Rojas C, Flores I, Atamian A, Moore R, Sharma R, Pirrotte P, Ashton RS, Huang EJ, Rumbaugh G, Coba MP, Quadrato G. Birtele M, et al. Nat Neurosci. 2023 Dec;26(12):2090-2103. doi: 10.1038/s41593-023-01477-3. Epub 2023 Nov 9. Nat Neurosci. 2023. PMID: 37946050 Free PMC article.
Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apical domain of human radial glia cells (hRGCs). ...Additionally, we confirmed an imbalance in the ratio of progenitors to neurons in a mouse mo …
Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apica …
SYNGAP1 Syndrome and the Brain Gene Registry.
Greco MR, Chatterjee M, Taylor AM, Gropman AL. Greco MR, et al. Genes (Basel). 2025 Mar 30;16(4):405. doi: 10.3390/genes16040405. Genes (Basel). 2025. PMID: 40282364 Free PMC article. Review.
BACKGROUND: The human brain relies on complex synaptic communication regulated by key genes such as SYNGAP1. SYNGAP1 encodes the GTPase-Activating Protein (SYNGAP), a critical synaptic plasticity and neuronal excitability regulator. ...The BGR enhances our understan …
BACKGROUND: The human brain relies on complex synaptic communication regulated by key genes such as SYNGAP1. SYNGAP1 encodes t …
SYNGAP1: Mind the Gap.
Jeyabalan N, Clement JP. Jeyabalan N, et al. Front Cell Neurosci. 2016 Feb 15;10:32. doi: 10.3389/fncel.2016.00032. eCollection 2016. Front Cell Neurosci. 2016. PMID: 26912996 Free PMC article. Review.
SYNGAP1 is a negative regulator of Ras, Rap and of AMPA receptor trafficking to the postsynaptic membrane, thereby regulating not only synaptic plasticity, but also neuronal homeostasis. Recent studies on the neurophysiology of SYNGAP1, using Syngap1 mouse mo …
SYNGAP1 is a negative regulator of Ras, Rap and of AMPA receptor trafficking to the postsynaptic membrane, thereby regulating not onl …
Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition.
Libé-Philippot B, Iwata R, Recupero AJ, Wierda K, Bernal Garcia S, Hammond L, van Benthem A, Limame R, Ditkowska M, Beckers S, Gaspariunaite V, Peze-Heidsieck E, Remans D, Charrier C, Theys T, Polleux F, Vanderhaeghen P. Libé-Philippot B, et al. Neuron. 2024 Nov 6;112(21):3602-3617.e9. doi: 10.1016/j.neuron.2024.08.021. Epub 2024 Oct 14. Neuron. 2024. PMID: 39406239 Free PMC article.
SRGAP2B/C genes promoted neoteny by reducing the synaptic levels of SRGAP2A,thereby increasing the postsynaptic accumulation of the SYNGAP1 protein, encoded by a major intellectual disability/autism spectrum disorder (ID/ASD) gene. Combinatorial loss-of-function experiment …
SRGAP2B/C genes promoted neoteny by reducing the synaptic levels of SRGAP2A,thereby increasing the postsynaptic accumulation of the SYNGA …
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708187 Free PMC article.
Six of the 46 candidate genes had 1 or more pathogenic variants, collectively accounting for 3% of our cohort. We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. ...
Six of the 46 candidate genes had 1 or more pathogenic variants, collectively accounting for 3% of our cohort. We show that de novo CHD2 and …
388 results