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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.
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. ...Mutations in SYNGAP1 result in a neurodevelopmental disorder termed M …
SYNGAP1 is a gene that encodes the cytosolic protein SYNGAP1 (SYNaptic GTPase Activating Protein), an essential component of t …
SYNGAP1-Related Intellectual Disability.
Holder JL Jr, Hamdan FF, Michaud JL. Holder JL Jr, et al. 2019 Feb 21. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2019 Feb 21. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 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 oth …
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or …
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 the 57 …
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. ... …
Highly Purified Cannabidiol for Epilepsy Treatment: A Systematic Review of Epileptic Conditions Beyond Dravet Syndrome and Lennox-Gastaut Syndrome.
Lattanzi S, Trinka E, Striano P, Rocchi C, Salvemini S, Silvestrini M, Brigo F. Lattanzi S, et al. CNS Drugs. 2021 Mar;35(3):265-281. doi: 10.1007/s40263-021-00807-y. Epub 2021 Mar 22. CNS Drugs. 2021. PMID: 33754312 Free PMC article.
Participants had to meet the following criteria: any sex, any ethnicity, any age, diagnosis of epilepsy, receiving plant-derived, highly purified (> 98% w/w) CBD in a sesame oil-based oral solution for the treatment of seizures. ...Open-label studies suggested the effec …
Participants had to meet the following criteria: any sex, any ethnicity, any age, diagnosis of epilepsy, receiving plant-derived, hig …
SYNGAP1-DEE: A visual sensitive epilepsy.
Lo Barco T, Kaminska A, Solazzi R, Cancés C, Barcia G, Chemaly N, Fontana E, Desguerre I, Canafoglia L, Hachon Le Camus C, Losito E, Villard L, Eisermann M, Dalla Bernardina B, Villeneuve N, Nabbout R. Lo Barco T, et al. Clin Neurophysiol. 2021 Apr;132(4):841-850. doi: 10.1016/j.clinph.2021.01.014. Epub 2021 Feb 3. Clin Neurophysiol. 2021. PMID: 33639450
OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available video-electroencephalogram (EEG) recordings were recruited within five European epil …
OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants w …
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.
Almost every individual with SYNGAP1-related ID develops epilepsy, and approximately 50% have ASD. SYNGAP1-related ID is estimated to account for at least 1% of ID cases. ...
Almost every individual with SYNGAP1-related ID develops epilepsy, and approximately 50% have ASD. SYNGAP1-related ID i …
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.
von Stülpnagel C, Hartlieb T, Borggräfe I, Coppola A, Gennaro E, Eschermann K, Kiwull L, Kluger F, Krois I, Møller RS, Rössler F, Santulli L, Schwermer C, Wallacher-Scholz B, Zara F, Wolf P, Kluger G. von Stülpnagel C, et al. Seizure. 2019 Feb;65:131-137. doi: 10.1016/j.seizure.2018.12.020. Epub 2018 Dec 22. Seizure. 2019. PMID: 30685520 Free article. Review.
PURPOSE: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induce …
PURPOSE: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autis …
[Clinical characteristics and gene analysis of SYNGAP1-related epilepsy in children].
Tian XJ, Fang F, Ding CH, Ren XT, Wang X, Wang XF, Lyu JL, Jin H, Han TL, Deng J. Tian XJ, et al. Zhonghua Er Ke Za Zhi. 2021 Dec 2;59(12):1059-1064. doi: 10.3760/cma.j.cn112140-20210430-00369. Zhonghua Er Ke Za Zhi. 2021. PMID: 34856666 Chinese.
Objective: To summarize the clinical characteristics of SYNGAP1-related epilepsy in children. Methods: Data of 13 patients with SYNGAP1 gene variants diagnosed with epilepsy at Department of Neurology, Beijing Children's Hospital were collected …
Objective: To summarize the clinical characteristics of SYNGAP1-related epilepsy in children. Methods: Data of 13 patients wit …
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 …
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Tang S, et al. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. Epilepsia. 2020. PMID: 32469098
OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE). METHODS: We deeply phenotyped MAE patients for epilepsy features, intel …
OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patien …
87 results