Pathogenic variants (“mutations”) in the SYNGAP1 gene cause a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delays, movement disorders and features of autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely.

SYNGAP1 -related disorders (SRD) are rare genetic disorders caused by a variant on the SYNGAP1 gene. The SYNGAP1 gene is located on Chromosome 6 and is responsible for …

SynGAP is a synaptic Ras GTPase-activating protein (GAP) with four C-terminal splice variants: α1, α2, β, and γ. Although studies have implicated SYNGAP1 in several cognitive disorders, it is not clear which SynGAP isoforms contribute to disease.

Synaptic Ras GTPase-activating protein 1, also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in humans is encoded by the SYNGAP1 gene. [5][6][7] SYNGAP1 is a ras GTPase-activating protein that is critical for the development of cognition and proper synapse function.

SynGAP is a potent regulator of biochemical signaling in neurons and plays critical roles in neuronal function. It was first identified in 1998, and has since been extensively characterized as a mediator of synaptic plasticity. Because of its ...

Feb 21, 2019 · SYNGAP1 -related intellectual disability (SYNGAP1- ID) should be considered in individuals with developmental delay or intellectual disability with or without: Autism spectrum disorder (ASD).

SYNGAP1 is a rare genetic disorder that causes neurological and developmental delays. This condition is identified by one or more of the following features: epilepsy, eyelid myoclonia (jerking or flickering up of the eyelids associated with the eyes rolling upwards), autism, intellectual disability and behavioral issues.

Jun 2, 2022 · SYNGAP1 -related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series.

SYNGAP1 encodes a Ras-specific GTPase-activating protein, SynGAP, which is localised to the post-synaptic density of cortical neurons and influences important cellular signalling pathways in growth and survival [2, 3]. It plays a complex role in neurodevelopment and …

SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. [1][2] Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait. [3][4][5]