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:
Impact of genetic epilepsy on parents
Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.
SCN2A International Natural History Study
Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.
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.
SCN2A simplified:
Parent-reported sleep profile of children with early-life epilepsies
Sleep problems are very common in children with early-life epilepsy.
Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies
In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
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.