Welcome to SCN2A Australia
SCN2A INTERNATIONAL AWARENESS DAY - 2021
About SCN2A Australia
We are parents of children who have SCN2A. Although our children have all had varying journeys, they are affected by SCN2A a devastating genetic mutation that causes death and severe disability for many children. We are dedicated to helping to develop treatments for SCN2A and developmental and epileptic encephalopathies (DEEs) and helping those working on and affected by DEEs better understand the conditions and live better lives.
We work with families, researchers, clinicians and professional bodies to improve the lives of those who have SCN2A and their families.
Connect with us via Facebook to Twitter to join us in our mission and keep up with the latest updates.
We also produce a podcast and a series of webinars on SCN2A and genetic epilepsies.
Latest Posts
Genetic Information
Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?
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.
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.
Praxis SCN2A Programs: An Update
Michael Oldham and Devra Densmore discuss Praxis’ rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
SCN2A Research Registry in Simons Searchlight
Jennifer Tjernagel outlines the work being done with the 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.
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.
SCN2A Phenotypes
What are the observable traits, or phenotypes, present in SCN2A-related disorders?