Researchers have discovered over 30 different kinds of changes (or mutations) in the ARHGEF9 gene, which can affect how the gene works. These changes can be big or small—some involve missing pieces of the gene, while others are small “spelling” differences in the genetic code. Each of these changes can disrupt how the gene makes a protein that the brain needs.
The ARHGEF9 gene provides instructions for making a protein called collybistin. This protein plays an important role in helping brain cells communicate with each other. When collybistin doesn't work properly, it can affect brain development and how signals are processed, which may help explain why children with ARHGEF9 changes can experience seizures, learning differences, or behavior challenges.
Scientists are continuing to learn more about how these changes affect the brain, and this knowledge is helping guide better care and support for children and families.
ARHGEF9