The edge of SYNGAP1 – familial variants in a complex neurodevelopmental disorder

Bridge the gap. There are very few conditions that I have learned as much about in the last three years as SYNGAP1-related disorders. We just passed the critical milestone of 100 SYNGAPians followed in our clinical trial–grade natural history study (SYNGAP1 ProMMiS). In addition, our study using real-world data across more than 2,500 patient years came online earlier this year. We are becoming more familiar with the range of reflex seizures observed in this condition and the unique fingerprint on the sensory profile that characterize its behavioral features. In a recent publication, we explored another aspect of SYNGAP1 that had been neglected so far. We tried to understand what happens when SYNGAP1 variants run in families and what this means for trial readiness and precision therapies.

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