Genetic epilepsies and developmental and epileptic encephalopathies (DEEs) significant impact the quality of life of patients.
Sleep problems are very common in children with early-life epilepsy.
In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies
Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.