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.
Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.
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.