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

The National Disability Insurance Scheme (NDIS) funds reasonable and necessary supports — therapies, equipment, support workers, early-childhood supports and support coordination. SCN2A-related disability typically meets the criteria. A genetic diagnosis plus your clinicians' functional reports are the backbone of a strong access request.

What a strong application needs:

  • A letter from your neurologist or paediatrician using NDIS language — "permanent impairment," "substantial impact on functional capacity," "likely need for lifetime support."
  • Allied-health reports (OT, speech, physio, psychology) describing functional limitations.
  • Your child's genetic testing results and any relevant hospital records.

If your child is under 9, you don't use the standard pathway — you enter through the Early Childhood Approach, which connects you with an Early Childhood partner and is usually the fastest route to funded supports. For age 9+, apply by calling the NDIS on 1800 800 110 or online, then attend a planning meeting that shapes the plan.

Commonly underfunded for DEE families Watch for these at your planning meeting or review, they are often missed: communication supports (AAC devices, enough speech therapy), behaviour support, psychology (including for parents and carers), respite and carer supports, and specialist support coordination.

For most families — especially at the start — a plan-managed plan is the most practical choice: a plan manager handles payments and you can still use unregistered providers. If an application is refused or a plan is underfunded, you can request an internal review within 3 months, and then the Administrative Appeals Tribunal (AAT) if needed.

The full step-by-step NDIS guide — eligibility, the four application steps, planning-meeting prep, budgets, appeals and plan management — is on the SCN2A Australia site. scn2aaustralia.org/ndis

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.

Life stages

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, not as a prediction.

Treatment depends on the type of change — and only your team can work it out At several stages below, medicines called sodium channel blockers come up. They can help "too much" (gain-of-function) changes and can worsen "too little" (loss-of-function) changes Wolff 2017 Brunklaus 2020. This tool will not label your child's change — only your genetics and neurology team can, using functional testing and the full clinical picture. See Understanding the science for what this means.

1. Newborn and diagnosis

Birth – 3 months

What's happening

With "too much" changes, seizures can start within hours of birth. Feeding can be hard, and a baby may be floppy (low muscle tone). Genetic testing usually starts now.

Support that should be in place

A newborn (neonatal) neurology team and a genetic doctor. Start NDIS access and connect with Carer Gateway.

2. Stabilisation

Weeks to years

What's happening

The type of change — "too much" or "too little" — matters a lot. Treatment is very different. Sodium channel blockers often help "too much" changes, but can make "too little" changes worse Wolff 2017 Brunklaus 2020.

Support that should be in place

A specialist (tertiary) epilepsy service and a team from different fields. Psychological support for parents and for brothers and sisters.

3. Infancy and early intervention

3 months – 3 years

What's happening

Developmental delay may show in movement, talking and social skills. Sleep, feeding and staying calm (regulation) can be hard.

Support that should be in place

NDIS Early Childhood Approach. Occupational therapy, speech and physio. Start communication tools (AAC). Ask for respite now.

Transition Start communication tools (AAC) before school. Connect with an early childhood education service that offers support.

4. Pre-school

3 – 6 years

What's happening

The picture of epilepsy, intellectual disability and autism becomes clearer. For many children, development begins to plateau (slow down).

Support that should be in place

Inclusion Support Programme for early childhood education and care. Use communication tools (AAC) everywhere. Add behaviour support.

Transition Starting school: plan 12–18 months ahead. You will need an education plan (IEP), transport, and aide training.

5. Primary school

6 – 12 years

What's happening

Hard-to-control (refractory) seizures are common. Bone and joint (orthopaedic) issues can emerge. Most children need special education or a lot of in-class support.

Support that should be in place

A yearly education plan (IEP). Aides trained in seizure response and communication tools. Continence aids, an assistive-technology review, and holiday programs.

Transition High school: shift the focus to everyday life skills. Start planning for puberty and behaviour now.

6. Adolescence

12 – 18 years

What's happening

Puberty can change seizure patterns and medicine. Mental health risks rise sharply — including anxiety and depression.

Support that should be in place

Begin moving to adult services from age 14. Sort out guardianship or supported decision-making now.

Transition Paediatric (child) supports end at 18. Plan for this "cliff" well before it arrives.

7. Transition to adulthood

18 – 25 years

What's happening

The move from child services to adult services can be abrupt. There is a higher risk of sudden death in epilepsy (SUDEP). Every team should be aware.

Support that should be in place

A coordinated handover with overlap — not a sudden drop. Plan supported living (SIL/SDA). Put guardianship, a trust and a will in place.

Critical transition Families most often report the system failing here. Housing, legal and medical supports all need to be sorted.

8. Adulthood

25 – 50 years

What's happening

Support needs are equal to, or greater than, in childhood. Parents are ageing — planning who takes over care cannot be put off.

Support that should be in place

Supported living (SIL, SDA), or family-supported living with skilled workers. Around-the-clock supervision, day programs and community access.

9. Older adulthood

50+ years

What's happening

Ageing can come early. The risk of falls and swallowing problems rises. Reviewing all medicines (polypharmacy) is essential. Palliative planning matters.

Support that should be in place

Specialist geriatric (older-age) and disability services. Advance care planning, and bereavement support for the family.

How to use this This is a general map, not a forecast for your child. Some children move through these stages very differently, and many families never see some of what's listed. Use it to plan the conversations worth having early — especially before the move to adult services.

AAC = alternative and augmentative communication. IEP = individual education plan. SIL = Supported Independent Living. SDA = Specialist Disability Accommodation. SUDEP = sudden unexpected death in epilepsy.

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.