Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
Sign Up to like & getrecommendations! Published in 2019 at "Neuropsychopharmacology Reports"
DOI: 10.1002/npr2.12073
Abstract: Synaptic Ras GTPase‐activating protein 1 (SYNGAP1) regulates synaptic plasticity through AMPA receptor trafficking. SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD). Almost every individual with SYNGAP1‐related… read more here.
Keywords: behavioral analysis; comprehensive behavioral; syngap1; mice ... See more keywords
Epigenetic modulation rescues neurodevelopmental deficits in Syngap1+/− mice
Sign Up to like & getrecommendations! Published in 2025 at "Aging Cell"
DOI: 10.1111/acel.14408
Abstract: SYNGAP1 is a Ras GTPase‐activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism… read more here.
Keywords: p300 cbp; csp ttk21; syngap1; syngap1 mice ... See more keywords
Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy
Sign Up to like & getrecommendations! Published in 2025 at "Epilepsia"
DOI: 10.1111/epi.18469
Abstract: SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize… read more here.
Keywords: variants define; disorder; familial syngap1; syngap1 ... See more keywords
SYNGAP1 encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000008352
Abstract: 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… read more here.
Keywords: syngap1 encephalopathy; eyelid myoclonia; epileptology; seizure ... See more keywords
Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000009010
Abstract: We thank Wolf and colleagues for their thoughtful comment on our SYNGAP1 encephalopathy study.1 The observation of reflex seizures triggered by eating in 25% of our cohort of 57 patients is intriguing and reflects their… read more here.
Keywords: syngap1 encephalopathy; author response; syngap1; response syngap1 ... See more keywords
Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Human Neuroscience"
DOI: 10.3389/fnhum.2022.918918
Abstract: SYNGAP1-related Intellectual Disability (SYNGAP1-ID) is a rare neurodevelopmental condition characterized by profound intellectual disability, gross motor delays, and behavioral issues. Ataxia and gait difficulties are often observed but have not yet been characterized by laboratory-based… read more here.
Keywords: intellectual disability; syngap1; individual syngap1; fraternal twin ... See more keywords
Epigenetic regulation of SYNGAP1 in alcohol use disorder in whole blood and saliva
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2025.1661760
Abstract: Epigenetic regulation is significantly altered in individuals with alcohol use disorder (AUD), representing a promising avenue for understanding its pathomechanisms and developing new therapies. In an earlier epigenome-wide study of CD3+ T cells, we identified… read more here.
Keywords: saliva; epigenetic regulation; syngap1; alcohol use ... See more keywords
Synaptoproteomic Analysis of the Prefrontal Cortex Reveals Spatio-Temporal Changes in SYNGAP1 Following Cannabinoid Exposure in Rat Adolescence
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010698
Abstract: The regular use of cannabis during adolescence has been associated with a number of negative life outcomes, including psychopathology and cognitive impairments. However, the exact molecular mechanisms that underlie these outcomes are just beginning to… read more here.
Keywords: cannabinoid exposure; adolescence; syngap1; exposure ... See more keywords