SCN2A is one of the more common genes linked to seizures that start very early in life. It is also one of the top genes linked to autism.
You are not alone. Children with SCN2A live all around Australia and around the world.
01
Understanding the condition
What SCN2A is, and what it can mean for your child
A child with an SCN2A change may have one or more of: seizures (sometimes starting in the first weeks of life), slower learning, autism, shaky or wobbly movements, or pain that comes and goes.
Not every child has all of these. Some children have only mild signs.
The SCN2A gene makes a tiny part inside brain cells called a "sodium channel." This part helps brain cells send messages.
"Too much" changes
the channel works too hard.
These often cause seizures in the first three months of life. Doctors call these gain-of-function.
"Too little" changes
the channel does not work enough.
These often cause seizures that start later, or autism and learning differences without early seizures. Doctors call these loss-of-function.
Knowing which type your child has helps the doctor choose the right medicine.
Sometimes a gene test finds a change in SCN2A, but the lab is not sure if it is the cause. The report may say "variant of uncertain significance."
If this happens, ask your neurologist or genetic doctor:
- Can my child’s gene change be sent for extra lab testing to see how it works?
- Can we be referred to Australian Genomics or a research team that does this?
This extra testing can sometimes show whether the change is "too much" or "too little." That helps with picking medicine.
02
Day to day and treatment
Choices, rhythms and the people around you
Knowing the type of SCN2A change helps doctors pick seizure medicines.
- For "too much" changes, medicines called sodium channel blockers (like phenytoin, carbamazepine, oxcarbazepine, or lacosamide) often help.
- For "too little" changes, those same medicines can sometimes make seizures worse. Doctors usually try other medicines.
Always talk to your child’s doctor before starting or stopping any medicine.
Children with SCN2A grow up in different ways. Some have very hard early years and then settle. Others learn at their own pace over many years.
Some adults with SCN2A live mostly independent lives. Others need lifelong support.
There is no single path. Your team can help you plan for the next stage.
Looking after a child with SCN2A is hard work. You also need support.
- Carer GatewayA free national service for carers.
- Carers AustraliaState-based help.
- Rare Voices AustraliaPeer-support project for rare-disease carers (running until December 2026).
- Epilepsy Action AustraliaCarer education and a nurse helpline.
It is okay to ask for help. It is okay to rest.
03
Research and what's coming
What science can do today, and what is on the horizon
Scientists are learning more every year. They have grown brain cells in the lab from people with SCN2A.
These cells help test which medicines work for which type of SCN2A change.
A new medicine called elsunersen is being tested for the "too much" type of SCN2A. Early results in one very sick baby were promising — seizures dropped by more than half, and the baby tolerated the treatment well.
More children need to be tested before we know how well it works.
- Australian New Zealand Clinical Trials RegistryFor trials in Australia.
- ClinicalTrials.govFor trials around the world.
Always talk to your child’s doctor before joining a clinical trial.
You can stay in the loop through this site, the Rare Voices Australia RARE Portal, Epilepsy Action Australia updates, and by asking your team to tell you when something new comes out.
You do not have to read every paper. Your team can help you understand what matters for your child.
For the "too little" type of SCN2A, scientists are testing new tools that could turn the working copy of the gene up.
This work is still in the lab, not in children yet. It is exciting, but it will take time.
04
Family stories
Real Australian families, in their own words
05
Looking ahead
What we know — and what we are still learning
We are still learning about how SCN2A affects people as they grow into adults.
A 2025 international study (with Australian doctors involved) is the most complete picture we have so far. It shows that life with SCN2A looks different for different people.
We do not yet have good long-term data on life expectancy for SCN2A.
The risk is highest for babies and children with very hard-to-control seizures. Many children with milder forms grow up and live long lives.
Your doctor is the best person to talk to about your child.
Looking ahead
A lifelong journey with SCN2A
SCN2A is part of life at every age. This timeline shows what often happens at each stage, and the supports that should be in place. Every child is different — use it as a guide for the conversations to have with your team.
What this means for families
Caring does not pause. These pressures run across the whole journey — and they are real, measurable, and worth naming when you ask for support.
Governance
Written using peer-reviewed evidence and Australian-recognised support organisations.
Reviewed by [CLINICIAN NAME, ROLE] on 29 May 2026. Next review due 29 May 2027.
This page is information only. It is not medical advice. Please talk to your child's clinical team about anything important.