Podcast
Transition
For children with complex needs like developmental epileptic encephalopathies (DEEs) transition to adult care can be challenging.
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genetics
Categories
Podcast
Living With Epilepsy
Torie Robinson’s lived experience makes her a powerful advocate for improving care for those with epilepsy.
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?