Developmental and epileptic encephalopathies (DEE) are severe, early-onset epilepsy disorders associated with developmental delays and seizures that are often difficult to treat. Clinically, a genetic cause can be identified in 40-50% of cases, providing a precise diagnosis, improving prognosis and recurrence risk counseling, connecting families to gene-based support groups, and facilitating investigation of precision therapies. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing.
In this study, Dr. Mefford and her team, will search for a different type of causative change – abnormal methylation which is a type of chemical modification of DNA in a large set of individuals with DEE without a known cause. Abnormal methylation has been identified as a cause in other human disorders but has not been explored much in epilepsy. As they identify novel methylation changes associated with DEE, they will perform additional studies to understand why certain methylation changes lead to epilepsy, and will develop clinical tests that can be used to diagnose affected individuals.
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