SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which produces a protein essential for brain and cognitive development. Now, a multicenter study describes the wide variability in clinical symptoms among patients and reveals that the severity of the disease does not depend exclusively on the SYNGAP1 gene, but on other genetic factors that may modulate its clinical expression.
This article was originally published on MedicalXpress.com
