SCN2A Navigator

An evidence-grounded guide for families, built around the published science

Prototype
This is an information guide, not medical advice. It explains what the published research says, in plain language. It does not diagnose, classify your child's specific gene change, or tell you what treatment to use. Always make decisions with your treating neurologist and genetics team.

Start wherever your questions are.

SCN2A affects every child differently, so there's no single right place to begin. Pick a card below and take it at your own pace. Each section is grounded in peer-reviewed research, with the source shown next to every claim so you can check it or share it with your clinician.

Understanding the science

Why two children with a change in the same gene can have such different journeys.

SCN2A carries the instructions for a sodium channel called Nav1.2, a tiny gate that helps brain cells fire. A change (variant) in SCN2A can push that gate in one of two broad directions Wolff 2017 Epilepsia 2021.

Gain-of-function (GoF)

The channel is overactive. In the research this is most often linked with seizures that start early, usually before 3 months of age Wolff 2017 Brunklaus 2024.

Often early-onset seizures May respond to sodium channel blockers*

Loss-of-function (LoF)

The channel is underactive. In the research this is more often linked with seizures starting later (after 3 months), or with autism and intellectual disability with few or no seizures Wolff 2017 Epilepsia 2021.

Often later-onset or no seizures Sodium channel blockers may not help, or may worsen*
Why this matters, and why you can't work it out at home The same medicine class (sodium channel blockers, such as carbamazepine or phenytoin) can help one direction and worsen the other Wolff 2017 Brunklaus 2020. That is exactly why this tool will not label your child's variant. Only your genetics and neurology team, using functional testing and the full clinical picture, can determine this safely.
An important honesty note Age of onset and symptoms are clues, not proof. A 2025 study found that the underlying mechanism cannot be reliably predicted from the clinical picture alone, and vice versa Epilepsia 2025. Many variants are still "of uncertain significance" (VUS). If you've been told this, it means the science isn't settled for that specific change yet; it is not a failure on anyone's part.

* "May respond" describes patterns seen across groups of patients in research. It is never a prediction for an individual child.

Symptoms & co-occurring conditions

SCN2A is more than epilepsy. Systematic phenotyping has mapped a wider picture.

In a 2024 study that carefully assessed 81 children, researchers built a "non-seizure severity" picture that went well beyond seizures Brunklaus 2024. Areas families and clinicians commonly track include:

  • Development & communication: gross motor, fine motor and communication skills Brunklaus 2024
  • Feeding: some children need gastrostomy (feeding tube) support Brunklaus 2024
  • Vision: cortical visual impairment (CVI) is recognised in the spectrum Brunklaus 2024
  • Movement: chorea and episodic ataxia are reported Epilepsia 2021
  • Spine: scoliosis is part of the severity picture in some children Brunklaus 2024
  • Autism & intellectual disability: can occur with rare seizures or none, particularly in later-onset or loss-of-function presentations Epilepsia 2021 EJPN 2020
How to use this This is a map of what's been described in research, not a checklist your child must match. Children vary enormously, even with the same variant. Use it to recognise things worth raising with your team, not to predict the future.

When you're ready, the appointment preparation section can turn anything you've noticed into a short summary to take to your next visit.

Prepare for an appointment

A few taps builds a short summary and question list. Nothing is stored or sent; it stays on your screen.

1. What's this visit mainly about?

2. What would you like to have noted? (tick any)

3. Questions you might ask

Tick the ones that fit. These are drawn from themes in the research, phrased as questions, not as advice.

Research & clinical trials

Real momentum, explained without hype.

For the first time, therapies aimed at the cause of SCN2A disorders are being tested, not just the seizures. The most advanced are antisense oligonucleotides (ASOs), medicines that lower the amount of overactive channel in gain-of-function disease JCI 2022 (preclinical) Nat Med 2025.

Where the science honestly sits The strongest human evidence so far is a single preterm infant treated under expanded access, with a reported >60% reduction in seizures and a favourable early safety profile Nat Med 2025. That is promising and real, but it is one child, early data. Larger trials are underway to find out whether it holds.

Currently registered (snapshot: 07 June 2026)

Before you act on any trial Eligibility depends on your child's specific variant, age, and current medicines, details this tool can't and shouldn't assess. Trial status changes often. Always verify directly with the trial team and your neurologist. Most ASO trials target gain-of-function, early-onset disease specifically.

Navigating support (Australia)

Practical starting points for the systems families deal with.

Connect with other SCN2A families

SCN2A Australia is the Australian charity supporting families affected by SCN2A. It's a place to find people who understand the day-to-day, and to keep up with research relevant here. scn2aaustralia.org

Internationally, the FamilieSCN2A Foundation funds research and maintains family resources, and was the route through which much of the phenotyping research recruited Brunklaus 2024. scn2a.org

Registries: adding your family's data to the science

Natural history registries collect what actually happens to children over years, which is how rare-disease treatments eventually get proven. Ask your team about the DRAGONFLY SCN2A natural history study and registries on platforms such as NORD's IAMRARE.

NDIS & disability supports

SCN2A-related disability typically meets the criteria for NDIS support. A genetic diagnosis plus your clinicians' functional reports are the backbone of a strong access request. Keep copies of developmental assessments, allied health reports, and your appointment summaries together; the appointment tool can help you build those.

A note on this section Links and programs change. This is a starting map, not formal advice on funding or eligibility. SCN2A Australia and your treating team can point you to what's current.

The evidence behind this tool

Everything in this prototype traces to one of these. Strength is graded so you can weigh it.

A consensus / large cohort   B cohort or review   C early / emerging   REG registry data

Evidence compiled 07 June 2026 via PubMed and ClinicalTrials.gov. This is a prototype built for SCN2A Australia; sources should be re-checked before any public release, and reviewed by a clinical advisor.