ihcurrent.bsky.social
@ihcurrent.bsky.social
Seizures and epilepsy are serious symptoms of #SYNGAP1 syndrome, which arises from LoF mutations in the gene. Our finding has important implications in the treatment of this condition because it shows that the structural role of SYNGAP1 will need to be rescued by therapies.
January 17, 2025 at 9:38 PM
Excited to share our new preprint on #SYNGAP1 that shows how its enzymatic and structural role can be dissociated! The GAP activity is essential in increasing intrinsic excitability but does not contribute to the seizure protection SynGAP is important for: biorxiv.org/content/10.1...
January 17, 2025 at 9:38 PM