This Rare Epilepsy Partnership Award is co-funded by CTNNB1 Connect and Cure
CTNNB1 syndrome is a rare genetic condition caused by changes in the catenin beta 1 (CTNNB1) gene. It is characterized by developmental delays, cognitive impairments, abnormal muscle tone, vision impairments and epilepsy. Families and clinicians still do not have clear information about how often seizures occur in this condition or what brain changes may lead to epilepsy. In this project, Dr. Page and his team will study seizures in a CTNNB1 mouse model using continuous video‑EEG recording and tests that measure the level of stimulation needed to trigger a seizure. They will also examine thousands of brain proteins to identify biological pathways that may be affected.
The team will also collect detailed seizure histories and quality‑of‑life information from individuals with CTNNB1 syndrome. All findings will be shared to support future research and help guide the development of new treatments.
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