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SCN2A International Natural History Study
Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.
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Resources
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.
Conference 2021
SCN2A Phenotypes
What are the observable traits, or phenotypes, present in SCN2A-related disorders?
Podcast
Quality of Life Measures
Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment.
Podcast
Ciitizen
Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.