Cargando…

Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations

SYNGAP1 is a critical gene for neuronal development, synaptic structure, and function. Although rare, the disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1 -related intellectual disability. Without functional SynGAP1 protein, patients p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Silverman, Jill L., Fenton, Timothy, Haouchine, Olivia, Hallam, Elizabeth, Smith, Emily, Jackson, Kiya, Rahbarian, Darlene, Canales, Cesar, Adhikari, Anna, Nord, Alex, Ben-Shalom, Roy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Journal Experts 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543290/ https://www.ncbi.nlm.nih.gov/pubmed/37790402 http://dx.doi.org/10.21203/rs.3.rs-3246655/v1

Ejemplares similares

Adult Phenotype of SYNGAP1-DEE
por: Rong, Marlene, et al.
Publicado: (2023)

Phenotypes in Children With SYNGAP1 Encephalopathy in China
por: Zhang, Huiting, et al.
Publicado: (2021)

SYNGAP1: Mind the Gap
por: Jeyabalan, Nallathambi, et al.
Publicado: (2016)

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency
por: Adhikari, Anna, et al.
Publicado: (2022)

Context-dependent hyperactivity in syngap1a and syngap1b zebrafish autism models
por: Sumathipala, Sureni H., et al.
Publicado: (2023)

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior
por: Creson, Thomas K, et al.
Publicado: (2019)

The SYNGAP1 3′UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK
por: Yokoi, Satoshi, et al.
Publicado: (2022)

Mouse models of SYNGAP1-related intellectual disability
por: Araki, Yoichi, et al.
Publicado: (2023)

Mouse models of SYNGAP1-related intellectual disability
por: Araki, Yoichi, et al.
Publicado: (2023)

Novel Mutations in Synaptic Transmission Genes Suppress Neuronal Hyperexcitation in Caenorhabditis elegans
por: McCulloch, Katherine A., et al.
Publicado: (2017)

Differential Regulation of Syngap1 Translation by FMRP Modulates eEF2 Mediated Response on NMDAR Activity
por: Paul, Abhik, et al.
Publicado: (2019)

SynGAP isoforms exert opposing effects on synaptic strength
por: McMahon, A.C., et al.
Publicado: (2012)

Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
por: Nakajima, Ryuichi, et al.
Publicado: (2019)

Cyfip1 Regulates SynGAP1 at Hippocampal Synapses
por: Sahasrabudhe, Abhishek, et al.
Publicado: (2021)

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
por: Prchalova, Darina, et al.
Publicado: (2017)

Gait as a quantitative translational outcome measure in Angelman syndrome
por: Petkova, Stela P., et al.
Publicado: (2022)

Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability
por: Lyons-Warren, Ariel M., et al.
Publicado: (2022)

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
por: Vlaskamp, Danique R.M., et al.
Publicado: (2019)

SynGAP isoforms differentially regulate synaptic plasticity and dendritic development
por: Araki, Yoichi, et al.
Publicado: (2020)

Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex
por: Vaissiere, Thomas, et al.
Publicado: (2023)

The Role of Hyperexcitability in Gliomagenesis
por: Goethe, Eric A., et al.
Publicado: (2023)

A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency
por: Mastro, Tara L, et al.
Publicado: (2020)

Paradoxical hyperexcitability from Na(V)1.2 sodium channel loss in neocortical pyramidal cells
por: Spratt, Perry W.E., et al.
Publicado: (2021)

Paradoxical Hyperexcitability in Disorders of Neurodevelopment
por: Antoine, Michelle W.
Publicado: (2022)

SynGAP Regulates Protein Synthesis and Homeostatic Synaptic Plasticity in Developing Cortical Networks
por: Wang, Chih-Chieh, et al.
Publicado: (2013)

Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection
por: Kilinc, Murat, et al.
Publicado: (2022)

Abnormal brain state distribution and network connectivity in a SYNGAP1 rat model
por: Buller-Peralta, Ingrid, et al.
Publicado: (2022)

Corticomotoneuronal function and hyperexcitability in acquired neuromyotonia
por: Vucic, Steve, et al.
Publicado: (2010)

Effects of astrocytic mechanisms on neuronal hyperexcitability
por: Grigorovsky, Vasily, et al.
Publicado: (2014)

Neural Hyperexcitability in Autism Spectrum Disorders
por: Takarae, Yukari, et al.
Publicado: (2017)

Sulfasalazine decreases mouse cortical hyperexcitability
por: Alcoreza, Oscar, et al.
Publicado: (2019)

Hyperexcitability and Homeostasis in Fragile X Syndrome
por: Liu, Xiaopeng, et al.
Publicado: (2022)

Ripples of Hyperexcitability in Epilepsy, Autism, and Inattention
por: Salpekar, Jay A.
Publicado: (2023)

Camkii-Mediated Phosphorylation Regulates Distributions of Syngap-α1 and –α2 at the Postsynaptic Density
por: Yang, Yijung, et al.
Publicado: (2013)

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
por: Carvill, Gemma L., et al.
Publicado: (2013)

Lovastatin Treatment of a Patient with a De Novo SYNGAP1 Protein Truncating Variant
por: Cook, Edwin H., et al.
Publicado: (2019)

Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy
por: Kuchenbuch, Mathieu, et al.
Publicado: (2020)

Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome
por: Smith-Hicks, Constance, et al.
Publicado: (2021)

Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description
por: Wright, Damien, et al.
Publicado: (2022)

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
por: Li, Boxuan, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_t8e1bk7jhiuokeu3qaaggd6s5n