Get to Know SCN1A Gain of Function Foundation

About SCN1A gain-of-function (GoF) disorders:

SCN1A gain-of-function (GoF) developmental and epileptic encephalopathy (DEE) is a rare, severe neurological condition caused by mutations in the SCN1A gene that increase sodium channel activity in the brain.

SCN1A gain-of-function (GoF) developmental and epileptic encephalopathy (DEE) is a rare, severe neurological condition caused by mutations in the SCN1A gene that increase sodium channel activity in the brain.

Children with SCN1A GoF typically begin having seizures in early infancy, sometimes from birth. Alongside seizures, most children experience significant developmental challenges. These may affect movement, communication, cognition, sensory processing, and emotional regulation. For many families, seizures are just one aspect of a broader and lifelong disability.

There are currently no proven, precise treatments. However, understanding of SCN1A GoF — including its subtypes and potential treatment responses — is growing rapidly.

Our Journey

Most families face a long and uncertain path to diagnosis. Children are frequently misdiagnosed or given treatments that may worsen their symptoms.

Before SCN1A gain-of-function disorders were identified, many children were diagnosed with “atypical Dravet syndrome” and advised to avoid sodium channel blockers. We now know that these medications may be helpful — even life-changing — for many with SCN1A GoF. This highlights the critical need for precision medicine.

Even after receiving a genetic diagnosis, families are often told:

“We don’t know what this means.”

“There’s no established care pathway.”

Despite these challenges, SCN1A GoF families are resilient, determined, and connected.

Clinical Features of our Community

Research into SCN1A gain-of-function disorders is ongoing, and clinicians are beginning to identify distinct subtypes based on seizure onset, movement symptoms, and developmental trajectory. While these groupings are still evolving, three provisional phenotypes have been proposed:

• Neonatal Developmental and Epileptic Encephalopathy with Movement Abnormalities (NDEEMA): Seizures begin in the first days or weeks of life, often triggered by environmental stimuli such as touch or temperature. Children are typically born with arthrogryposis, and movement disorders — such as dystonia or chorea — appear before two years of age.

• Early Infantile Developmental and Epileptic Encephalopathy (EIDE): Seizures start before three months of age. Unlike NDEEMA, children with EIDE do not have arthrogryposis at birth, but movement disorders may develop later in infancy or childhood.

• Early-Onset Epileptic Encephalopathy without Movement Disorder: This group includes children with early and severe epilepsy who do not develop overt movement abnormalities. Developmental delays remain significant and complex.

While these categories offer useful insights, many children do not fit neatly into one group. Families are rarely given clear explanations about subtype classification or its relevance for care. SCN1A GoF remains under-recognised, and clinical protocols are still being developed.

What We Wish More People Knew:

• SCN1A GoF is not Dravet syndrome. It requires a distinct, individualised approach to care and treatment. Children with SCN1A GOF often respond to sodium channel blockers

• Our children live with complex, lifelong disabilities that affect every part of development — not just seizures.

• After diagnosis, families are often left with no roadmap and must advocate fiercely for appropriate care and support.

Our Mission

SCN1A Gain of Function Epilepsy Foundation is a newly formed, parent-led organisation driving change for families affected by SCN1A gain-of-function DEE. We are united by the urgent need for accurate diagnosis, faster access to emerging treatments, and inclusive systems of care.

Our mission is to accelerate research, share trusted information, and ensure that families are central to every decision — from clinical care to therapeutic development. While based in Australia, we are building a global network of families, clinicians, researchers, and biotech partners committed to improving outcomes.

We focus on four key areas:

• Driving research and treatment: We collaborate with scientists and industry partners to fast-track discovery and development of safe, effective therapies.

• Supporting families: We provide clear, accessible information to newly diagnosed families navigating this complex condition.

•  Advocating for inclusion: We work to ensure SCN1A GoF-DEE is recognised within health, disability, and education systems — and that no child is excluded from necessary care or support.

• Partnering in care and research: We advocate for families to be treated as equal partners in clinical and research decision-making.

Founded by parents with lived experience, our work is grounded in deep personal insight and a commitment to collective impact. We believe that research must be shaped by those most affected — and that “rare” must never mean invisible.

We welcome collaboration and connection with anyone working to improve life for children and families affected by DEEs.

Why This Matters

This is about more than genetics. It’s about equity, recognition, and the right of every child — including those with rare and severe conditions — to thrive. We are working toward a future where children with SCN1A GoF are known, understood, and included — and where no family walks this path alone.

I am Especially Proud of...

One thing we’re especially proud of is how quickly the SCN1A Gain of Function Epilepsy community has come together.

Until recently, families affected by a SCN1A GOF DEE had no dedicated space — no tailored information, no peer connection, and no coordinated effort to accelerate research. In a short time, we’ve started to change that.

We’ve connected families across the world who were previously isolated. Many are now sharing knowledge, supporting one another, and advocating together for faster diagnosis, better care, and targeted treatments. Building this sense of community — even before establishing a formal organisation — has been a major step forward.

We’re also proud that some of our members are already helping to shape early-stage research. By partnering with scientists, contributing data, or supporting research recruitment, families are showing the power of lived experience to drive progress. Our community is small, but it is strong — and growing.

This shared momentum has been our greatest achievement so far. In a space where very little existed, families are now finding each other, asking questions, and making sure SCN1A GoF-DEE is no longer overlooked.

We are proud of what we’ve built together — and even more excited for what’s ahead.

Excited for REN Because...

REN’s mission to foster collaboration across the rare epilepsies is deeply aligned with what our SCN1A Gain of Function Epilepsy community needs most: connection, shared knowledge, and collective impact.

As a newly forming parent-led community, we are navigating the early stages of advocacy, education and research mobilisation for an ultra-rare and complex condition. SCN1A gain-of-function DEE presents unique challenges — but we also share many experiences with families across the rare epilepsy landscape. Being part of REN offers a way to learn from others, avoid duplication, and accelerate progress by building on what works.

We envision REN helping our families in several important ways:

• Connection to experienced leaders: Learning from other rare epilepsy groups who have successfully built support networks, influenced research, and secured funding will be invaluable.

• Access to shared resources: From clinical tools to family-friendly information, being part of REN means we don’t have to start from scratch.

•  Collaborative research opportunities: As treatments targeting SCN1A GoF-DEE emerge, REN can help amplify the importance of our condition within broader research agendas.

• Policy and advocacy alignment: Working alongside others on cross-cutting issues like diagnosis, access to care, and inclusive education will strengthen all our voices.

We’re especially excited about the opportunity to learn and partner — with families, researchers, and advocacy leaders who understand the urgency and complexity of rare epilepsies. We are grateful REN creates a space where even the newest groups can find support, share insights, and contribute meaningfully.

For our small but growing community, REN represents not just opportunity — but solidarity.

Connect With Us

We welcome connection from families, clinicians, researchers, and advocates. If you’ve received an SCN1A GoF diagnosis — or are interested in collaborating to advance care and cure — we’d love to hear from you. Reach out via the Rare Epilepsy Network or Emily at emily@disabilityrightsconnect.com.

My Journey and Motivation

Our journey began the day our beautiful son was born.

He arrived with a suspected diagnosis of arthrogryposis — a rare condition affecting joint movement. On his first day of life, we noticed strange episodes where he would stiffen and stop breathing. We were told they were likely breath-holding spells, but something didn’t feel right. It wasn’t until he was four weeks old that doctors recognised they were seizures, after we pushed for an EEG. At seven weeks, genetic testing gave us an answer: SCN1A gain-of-function developmental and epileptic encephalopathy.

The diagnosis was overwhelming. It explained the seizures, but it also meant we were dealing with a condition so rare that few clinicians had seen it — and no roadmap existed for what to expect. We were left trying to piece together what this meant for our baby’s future, alone and deeply afraid.

When our son was around three months old, we found the SCN1A GoF Facebook group — and it changed everything. Suddenly, we weren’t alone. There were other families who understood what we were facing. They offered information, support, and hope. That sense of connection — even across oceans — gave us the strength to keep pushing for answers and better care.

Elliott is now a joyful, determined toddler with complex needs and incredible spirit. He teaches us every day about resilience and love. He is the reason I’m working to build this community — so that no other family hears “SCN1A gain-of-function” and feels lost.

By Emily Cukalevski, Organiser