Basic Information and Research on SYNGAP1
Children born with an SYNGAP1 gene mutation or variant are affected by various symptoms, ranging from mild to severe.
In 2009, the first SYNGAP1 patient was identified and reported in the medical literature.
The SYNGAP1 gene is located in the brain and provides instructions for making a protein called SynGAP that plays a vital role in nerve cells in the brain.
SynGAP is found at the junction between nerve cells (synapses) where cell-to-cell communication occurs. Connected nerve cells act as the “wiring” in the brain's circuitry. Synapses can change and adapt over time, rewiring brain circuits, which is critical for learning and memory.
SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein’s function is essential during a critical period of early brain development that affects future cognitive ability.
What Is the Impact of a SYNGAP1 Gene Mutation?
A SYNGAP1 gene mutation can cause a variety of symptoms.
Symptoms vary between each individual affected and can range from mild to severe. The most common symptoms include:
- Learning Disabilities
- Behavioral Challenges
- Sensory Processing Disorder
SYNGAP1 Clinical Experts and SYNGAP1 Families
Symptoms Related to SYNGAP1 Gene Mutations and Variants
SYNGAP1 Information & Research Publication Links
• NIH U.S. National Library of Medicine - Help Me Understand Genetics
• NIH U.S. National Library of Medicine - SYNGAP1 Gene
• SYNGAP1 Research Publications
• SYNGAP1 Gene Mutations
• SYNGAP1 & Epilepsy Research
• SYNGAP1 & Autism Research