Updated: Nov 6
About DLG4 Synaptopathy
DLG4-related synaptopathy is the medical diagnostic term, though most families refer to the disorder as SHINE Syndrome. The gene is DLG4 and the protein impacted is PSD-95. We have about 130 known cases right now. Patients commonly present with seizures, hypotonia, ID, sleeps issues, and ASD.
SSF Clinical Features
There is a high prevalence of ESES in our population. ID ranges from mild to severe in our cases, with many patients presenting as nonverbal. The outcome seems to be worse in the cases with ESES/epilepsy.
Get to Know Shine Syndrome Foundation
Our patient group was organized by a group of 8 families in late 2021 after several clinicians and researchers suggested the need. We are an international organization, but located in the US. Our mission is to improve the quality of life for children and families impacted by SHINE Syndrome through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness. We do both research and advocacy.
I am Especially Proud of...
Our foundation has already funded a postdoc as well as an AAV9 gene therapy. We also have hopes to host a family conference in 2024.
Excited to REN Because...
Any treatments for ESES in general may be valuable to our patients and/or other clinical trials for epilepsy.
My Journey and Motivation...
My son has been battling a severe case of intractable epilepsy. For years, we didn't know the cause. Finding the gene and root cause felt very validating and freeing in many ways. We were able to connect with other families who understood and were going through the same things.
By Laura Palmer, President