SCN2A Simplified
ASO for SCN2A gain of function mutation in mice
Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.
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epilepsy
Categories
SCN2A Simplified
Impact of genetic epilepsy on parents
Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.
Genetic Epilepsy Team Australia (GETA) Family Conference 2021
Hear the latest on genetic epilepsy from world-leading experts at Genetic Epilepsy Family Conference, May 29th 2021.
Conference 2021
Genetic Information
Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?
Conference 2021
Support for SCN2A and genetic epilepsy families
Suzanne is passionate about supporting families with a rare epilepsy diagnosis. She presents her research and the resources she has developed.
Conference 2021
Understanding clinical variability for variants in the same gene
Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.
Conference 2021
Praxis SCN2A Programs: An Update
Michael Oldham and Devra Densmore discuss Praxis’ rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
Conference 2021
SCN2A Research Registry in Simons Searchlight
Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.
Conference 2021
Collaboration with families – the key to treatment success
Professor Ingrid Scheffer speaks to the importance of collaborating with families for successful treatment.
Conference 2021
Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic intervention
Professor Steven Petrou explains how mutations in the SCN2A gene can lead to loss of function, and how treatments could increase function.