Genetic Information
Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?
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Genetic Information
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.
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Support for SCN2A and genetic epilepsy families
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.
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Understanding clinical variability for variants in the same gene
Praxis SCN2A Programs: An Update
Michael Oldham and Devra Densmore discuss Praxis' rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
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Praxis SCN2A Programs: An Update
SCN2A Research Registry in Simons Searchlight
Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.
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SCN2A Research Registry in Simons Searchlight
Collaboration with families – the key to treatment success
Professor Ingrid Scheffer speaks to the importance of collaborating with families for successful treatment.
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Collaboration with families – the key to treatment success
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.
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Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic intervention
SCN2A Phenotypes
What are the observable traits, or phenotypes, present in SCN2A-related disorders?
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SCN2A Phenotypes
Quality of Life Measures
Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment.
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Quality of Life Measures
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.
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Ciitizen