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
SCN2A Awareness Day 2021 – Family Stories
Families share their journey of SCN2A
Clinical Features of SCN2A-Related Disorders
Mutations of the SCN2A gene can result in a range of different clinical syndromes. Understanding these clinical presentations can help to guide treatment.
Gene editing with CRISPR
What is CRISPR? How does it work? Is it ready for use in humans? Hear about CRISPR in this episode of the ‘Health Report’ podcast.
Hot topics in autism research in 2019
This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.
Developing Treatment for SCN2A
Prof Steven Petrou and Dr Kiran Reddy discuss the RC-222 program developing an ASO treatment for gain-of-function SCN2A epilepsies.
Loss-of-function SCN2A mutations
The following work from Assistant Prof. Kevin Benders lab was presented on the 20th of October in Chicago, at Neuroscience 2019 held by Society for
Natural History Study in SCN2A
The SCN2A International Natural History Study (NHS) is comprised of clinicians collaborating from multiple academic institutions, including US, European and Australian based clinicians. Dr. Katherine
The Florey Institute – SCN2A team
Today we are introducing the SCN2A research team at the Florey Institute. The team is lead by Prof Steven Petrou, Director of Florey Institute. The