Characteristics and clinical features:
Changes in SYNGAP1 are linked to intellectual disability, epilepsy and sometimes autism. About two in three people with differences in the SYNGAP1 gene have seizures. People with differences in SYNGAP1 can also suffer from sleep issues, constipation and low muscle tone.
Studies in mice show that SYNGAP1 is important for normal brain development and that changes in this gene can make the brain overexcitable. This may explain why people with differences in this gene are prone to seizures. Most SYNGAP1 mutations are de novo, meaning that the individual’s parents do not carry the mutation.
SYNGAP1 was first linked to intellectual disability in 2009 and to autism in 2011.
News stories from Spectrum:
Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorally independent.