SYNGAP1
What is SYNGAP1?
SYNGAP1 explained in plain language: the gene, the brain, epilepsy, development, communication and learning.
The essentials
What is SYNGAP1?
SYNGAP1 is a gene that plays a decisive role in how brain cells communicate with each other. When there is a change (a variant) in this gene, the brain produces less SYNGAP1 protein than it needs.
That difference affects the maturation of synapses — the connections between neurons — and gives rise to a set of manifestations known as SYNGAP1-related encephalopathy. It is a rare genetic condition, present from birth, and it is not caused by anything the family did or failed to do.
- SYNGAP1 geneA variant reduces the protein produced.
- BrainSynapses mature differently.
How it shows up
- EpilepsyFrequent seizures, often difficult to control.
- DevelopmentGlobal developmental delay and reduced autonomy.
- CommunicationAbsent or limited speech; augmentative support.
- LearningIntellectual and behavioural difficulties.