SCN2a is one of the most common causes of neurodevelopment disease. Common clinical features include early-onset epileptic encephalopathy, intellectual disability, autism spectrum disorders and behaviours, and movement disorders. SCN2a encodes an alpha subunit in a voltage-gated sodium channel and is important neuronal signalling. 

 Australian families of children with SCN2a mutation aim to support Australian research in to genetic epilepsies and the creation of a precision medicine hub in Australia focused on finding a cure for genetic epilepsies. We also aim to increase public awareness about the severity and prevalence of genetic epilepsies such as SCN2a and provide educational and emotional support for parents and families by connecting them with other families.

 We are working for a cure for our kids, the SCN2a community and other genetic epilepsies. 

 All money that is raised via this account will be donated to SCN2a research via the Genetic Epilepsy Research Fund or to directly support families here in Australia. 

If you would like further information email Kris Pierce on krispconsulting@gmail.com

To get in contact with Australian families, join our closed Facebook group at:

bit.ly/SCN2aAustralia

 

Epilepsy Foundation

We work with individuals and families, organisations and the community to increase people’s understanding of epilepsy.

The Epilepsy Foundation uses evidence based practice to stop avoidable deaths, ensure children get a good education, help people get and keep their jobs and help people feel safe and connected.

A good understanding of epilepsy is the key to achieving these outcomes.

The Epilepsy Foundation believes no one should go it alone with epilepsy.

Every day we try to make life better for people living with epilepsy and this is made possible because of the support of people like you. The Epilepsy Foundation encourages the community to get involved with fundraising so people living with epilepsy don’t have to go it alone.

1 heroes fundraising today.

Will’s story -

 Will has had seizures since birth. Spent the first 6 months of his life in hospital, was sent home to die at the age of 6 months, and he has nearly died many times since. But he is now 15 and a lot stronger than he used to be. We and Will’s doctors have always known something was wrong but never knew the diagnosis until participating in multinational research led by Australian researchers from University of Melbourne who described a series of 20 children with SCN2A from around the world and published their work in Neurology in 2015. Now that we know the gene responsible for Will’s condition, basic science researchers (also from University of Melbourne) are working with mouse models of SCN2A mutations (and other rare gene mutations that cause epilepsy) to find treatments and hopefully a cure.

 Will has limited speech, intellectual disability and autistic tendencies which can all be linked to this rare gene mutation. We need to find a cure!


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