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 are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.
This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.
Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.
Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?
Suzanne is passionate about supporting families with a rare epilepsy diagnosis. She presents her research and the resources she has developed.
Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.