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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.
Here we review the clinical and pathophysiological aspects of SYNGAP1 mutations with a focus on their effect on synaptogenesis, neural circuit function, and cellular plasticity. We conclude by comparing the molecular pathogenesis of SYNGAP1 mutations w …
Here we review the clinical and pathophysiological aspects of SYNGAP1 mutations with a focus on their effect on synaptogenesis …
[Identification of a novel SYNGAP1 mutation in a child with intellectual disability].
Lu J, Zhang Y, Han C, Zhu J, Wang J, Yao R. Lu J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):716-719. doi: 10.3760/cma.j.issn.1003-9406.2019.07.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302919 Chinese.
OBJECTIVE: To report on a child with mental retardation caused by SYNGAP1 gene mutation. METHODS: Peripheral blood samples were collected from the proband and her parents. ...RESULTS: By HTS, a previously unknown mutation [c.1656C>A (p.C552*)] was found in …
OBJECTIVE: To report on a child with mental retardation caused by SYNGAP1 gene mutation. METHODS: Peripheral blood samples wer …
Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice.
Nakajima R, Takao K, Hattori S, Shoji H, Komiyama NH, Grant SGN, Miyakawa T. Nakajima R, et al. Neuropsychopharmacol Rep. 2019 Sep;39(3):223-237. doi: 10.1002/npr2.12073. Epub 2019 Jul 19. Neuropsychopharmacol Rep. 2019. PMID: 31323176 Free PMC article.
SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD). ...In mouse models with Syngap1 mutations, strong cognitive and affective dysfunctions have been reported, yet some findings are i
SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD). ...I
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.
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. ...RESULTS: We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of …
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. ... …
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
OBJECTIVE: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. ...A review of SYNGAP1 mutations published in the literature was also performed. ...
OBJECTIVE: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype …
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL Jr, Miller CA, Rumbaugh G. Michaelson SD, et al. Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21. Nat Neurosci. 2018. PMID: 30455457 Free PMC article.
In vivo neurophysiological analysis in Syngap1 mouse models revealed that upper-lamina neurons in somatosensory cortex weakly encode information related to touch. ...Thus, Syngap1 heterozygosity causes a range of circuit-specific pathologies, including reduced activ …
In vivo neurophysiological analysis in Syngap1 mouse models revealed that upper-lamina neurons in somatosensory cortex weakly encode …
SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.
Llamosas N, Arora V, Vij R, Kilinc M, Bijoch L, Rojas C, Reich A, Sridharan B, Willems E, Piper DR, Scampavia L, Spicer TP, Miller CA, Holder JL, Rumbaugh G. Llamosas N, et al. J Neurosci. 2020 Oct 7;40(41):7980-7994. doi: 10.1523/JNEUROSCI.1367-20.2020. Epub 2020 Sep 4. J Neurosci. 2020. PMID: 32887745 Free PMC article.
SYNGAP1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. ...These altered developmental processes may contribute to the etiology of SYNGAP1 disorders....
SYNGAP1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. ...The
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Berryer MH, et al. Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23161826
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an associa …
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NS …
Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
Kilinc M, Creson T, Rojas C, Aceti M, Ellegood J, Vaissiere T, Lerch JP, Rumbaugh G. Kilinc M, et al. Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24. Mol Cell Neurosci. 2018. PMID: 29580901 Free PMC article. Review.
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. ...Two additional domains are defined by integrating the current literature with new data indicating that SYNGAP1/
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and
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
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