Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
2001 2
2003 1
2004 6
2005 4
2006 6
2007 1
2008 4
2009 4
2010 7
2011 10
2012 8
2013 10
2014 10
2015 15
2016 16
2017 11
2018 18
2019 37
2020 27
2021 26
2022 33
2023 43
2024 18

Text availability

Article attribute

Article type

Publication date

Search Results

43 results

Results by year

Filters applied: . Clear all
Page 1
Hippocampal proteomic changes in high-fat diet-induced obese mice associated with memory decline.
Lu P, Gao CX, Luo FJ, Huang YT, Gao MM, Long YS. Lu P, et al. J Nutr Biochem. 2024 Mar;125:109554. doi: 10.1016/j.jnutbio.2023.109554. Epub 2023 Dec 22. J Nutr Biochem. 2024. PMID: 38142716
Protein-protein interaction enrichment showed that the DEPs are mostly enriched in postsynaptic functions; and of them, six proteins (i.e., DLG3, SYNGAP1, DCLK1, GRIA4, GRIP1, and ARHGAP32) were involved in several functional assemblies of the postsynaptic density includin …
Protein-protein interaction enrichment showed that the DEPs are mostly enriched in postsynaptic functions; and of them, six proteins (i.e., …
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Coppola A, et al. Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23. Epilepsia. 2024. PMID: 38088023 Free article.
RESULTS: We identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CHD2, one in NEXMIF, one in SYNGAP1, and one in TRIM8) were found in the EEM+ subcohort (28.57%). ...We provide further evidence to str …
RESULTS: We identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CH …
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K, Xiao J, Ling Z, Luo T, Xiong J, Chen Q, Dong L, Wang Y, Wang X, Jiang Z, Xia L, Yu Z, Hua R, Guo R, Tang D, Lv M, Lian A, Li B, Zhao G, He X, Xia K, Cao Y, Li J. Li K, et al. EBioMedicine. 2024 Jan;99:104928. doi: 10.1016/j.ebiom.2023.104928. Epub 2023 Dec 18. EBioMedicine. 2024. PMID: 38113761 Free PMC article.
Minigene successfully validated 59 of 79 (74.68%) NCSVs that led to abnormal splicing in 40 candidate genes, and 9 of the genes (ARID1B, KAT6B, TCF4, SMARCA2, SHANK3, PDHA1, WDR45, SCN2A, SYNGAP1) harboured recurrent NCSVs with the same variant present in more than two unr …
Minigene successfully validated 59 of 79 (74.68%) NCSVs that led to abnormal splicing in 40 candidate genes, and 9 of the genes (ARID1B, KAT …
Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.
Thomas BR, Ludwig NN, Falligant JM, Kurtz PF, Smith-Hicks C. Thomas BR, et al. Epilepsy Behav. 2024 Jan;150:109584. doi: 10.1016/j.yebeh.2023.109584. Epub 2023 Dec 13. Epilepsy Behav. 2024. PMID: 38096660
SYNGAP1-related disorder (SYNGAP1-RD) is a neurodevelopmental disorder that is commonly associated with epilepsy, autism spectrum disorder (ASD), and disruptive behaviors. ...Our results suggest a number of commonalities between behavioral profiles in SYNGAP1 …
SYNGAP1-related disorder (SYNGAP1-RD) is a neurodevelopmental disorder that is commonly associated with epilepsy, autism spect …
Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability.
Wright D, Kenny A, Mizen LAM, McKechanie AG, Stanfield AC. Wright D, et al. J Autism Dev Disord. 2023 Dec 6. doi: 10.1007/s10803-023-06162-9. Online ahead of print. J Autism Dev Disord. 2023. PMID: 38055183
SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. ...Hierarchical clustering analysis highlighted distinct SYNGAP1-related ID subgroups for both ASD and ADHD traits. These findings provide further characterisation of …
SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. ...Hierarchical clustering analys …
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045990 Free PMC article.
Although SYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. ...RESULTS: Fourteen unrelated adult patients (median: 21 years, range: 18-65 years) with SYNGAP1-DEE were identified, 11 with novel and 3 with known LP/P …
Although SYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. ...RESULTS: Fourteen u …
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
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 …
Social behavioral impairments in SYNGAP1-related intellectual disability.
Naveed H, McCormack M, Holder JL Jr. Naveed H, et al. Front Pediatr. 2023 Nov 29;11:1188117. doi: 10.3389/fped.2023.1188117. eCollection 2023. Front Pediatr. 2023. PMID: 38094184 Free PMC article.
A short form SRS-2 analysis (n = 85) was also conducted. RESULTS: Both SYNGAP1-ID and PMD had significantly elevated total and subcategory T-scores, with no significant score differences between SYNGAP1-ID and PMD, consistent between the full and short form. ...DISC …
A short form SRS-2 analysis (n = 85) was also conducted. RESULTS: Both SYNGAP1-ID and PMD had significantly elevated total and subcat …
43 results

Searches related to "syngap1"