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.
Sleep problems are very common in children with early-life epilepsy.
In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies
Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.