The SCN2A Foundation

04/27/2026

Seeing “mixed function” on your child’s SCN2A report can be confusing.

It means the channel may be both overactive and underactive in different ways. This guide explains what that looks like, and why understanding the specific variant matters for care.

Read more: https://bit.ly/understanding-scn2a-mixed-function-disorders

Reference: Neurology: Genetics National Library of Medicine (NLM) @

04/24/2026

GOF variants make the brain's sodium channels overactive, which is why seizures can begin in the first days of life.

Our guide explains what that means for your child's care and what targeted therapies are now in clinical trials for GOF families.

Read more: https://bit.ly/understanding-scn2a-gain-of-function-disorders

Reference: Praxis Precision Medicines Nature Medicine Journal of Clinical Investigation National Library of Medicine (NLM)

04/21/2026

Loss of function and gain of function variants are not the same diagnosis, and the difference shapes which medications are safe, what symptoms to expect, and which research applies to your child.

We put together a guide that explains it clearly, without the jargon.

Read more: https://bit.ly/understanding-scn2a-loss-of-function-disorders

Reference: National Library of Medicine (NLM) University of Oxford

04/16/2026

We're happy and humbled to announce Jason Curry and the The SCN2A Foundation's inclusion into the FasterCures, a Center of the Milken Institute program to help accelerate transformative, life saving science for SCN2A.

The Milken Institute is on of the worlds prominent non partisan think tanks focused on accelerating measurable global progress in the areas of health, finance, and philanthropy.

The FasterCures program is working to build a system that is effective, efficient, and driven by a clear vision: patient needs above all else. We believe that transformative and life-saving science should be fully realized and deliver better treatments to the people who need them.

Per Milken:

"Today's biomedical research system is often siloed, bureaucratic, and too slow to meet the needs of patients across the globe. We accelerate biomedical science and innovation to remove unnecessary barriers so that lifesaving and life-enhancing treatments can reach those who need them as rapidly and as safely as possible.

The 2026–2027 FasterCures’ LeadersLink program cohort has been carefully selected from a highly competitive pool of candidates. We chose nine exceptional individuals to participate in this year’s program.

Through a capstone project, mentorship, in-person meetings, and virtual collaboration, participants will improve their organization’s ability to advance research through strategic industry partnerships, which is this year’s theme.

Paired with mentors from FasterCures Changemakers and other leaders in our network, participants gain access to extensive networks of FasterCures and the Milken Institute for guidance and support as they navigate their leadership journeys.

FasterCures and the Milken Institute express gratitude to mentors and experts for their dedication and eagerly anticipate the achievements of the LeadersLink participants."

Read more about this years cohort here: https://milkeninstitute.org/article/meet-leaderslink-2026-2027-cohort

Also, this work is time consuming, resource intensive, and we can't do this alone. Please consider making a tax deductible donation to help us continue this work: https://www.scn2afoundation.org/donate

04/14/2026

A new Yale study identified levocarnitine, an FDA-approved compound, as a leading candidate in a large-scale preclinical screen for SCN2A.

Researchers used zebrafish carrying SCN2A mutations to screen hundreds of approved drugs, looking for ones that could rescue specific behavioral and neuronal disruptions the mutation causes. Levocarnitine rose to the top, and held up when tested in human stem cell-derived neurons with SCN2A mutations.

Read more about this research in today's blog post: https://www.scn2afoundation.org/post/new-yale-research-points-to-levocarnitine-as-a-drug-candidate-for-scn2a

Yale University Yale School of Public Health

Blog

04/13/2026

Autism diagnosis. Genetic test. Then someone mentions SCN2A and you're left figuring out what that means for your child.

We wrote this to give you a clearer picture.

Read more: https://bit.ly/scn2a-and-autism-understanding-the-connection-the-science-and-what-comes-next

Reference: National Institute of Mental Health PNAS Library of Medicine (NLM) Oxford Academic (Oxford University Press)

04/07/2026

No two SCN2A kids have the same story. And that's something we don't talk about enough.

The type of mutation matters. It can shape when seizures start, how they look, and how doctors approach care.

We wrote this guide to help you make sense of it.

Read more: https://bit.ly/understanding-scn2a-epilepsy-a-guide-for-families

Reference: Epilepsy Foundation of America National Institute of Neurological Disorders and Stroke - NINDS National Library of Medicine (NLM) Wiley Oxford Academic (Oxford University Press)

04/06/2026

Results from the EMBRAVE Part A trial just dropped — and Elsunersen, an A*O designed for children with gain-of-function SCN2A mutations, showed a 77% seizure reduction in a controlled clinical trial.

Every single treated child showed improvements beyond seizures: sleep, motor function, attention, muscle tone.

https://www.scn2afoundation.org/post/elsunersen-aso-for-scn2a-clinical-trial-shows-77-seizure-reduction-in-children-with-gof-mutations

Blog

03/30/2026

New research out of UCSF shows CRISPR can turn up the healthy SCN2A gene — and the results held even in older developmental stages.

We broke down what this means for your child's specific mutation.

Read our full guide → https://bit.ly/crispr-activation-for-scn2a

Reference: National Library of Medicine (NLM) University of California Foundation