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.
Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.
Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.
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.
Michael Oldham and Devra Densmore discuss Praxis’ rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.
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