Thanks to donors from all over the world, the FamilieSCN2A Foundation is able to help fund research to better understand SCN2A, find effective treatments and work toward finding a cure! We are excited to be able to award grants toward research and provide information on other grant programs available.

The FamilieSCN2A Action Potential Grant

UPDATE - Award has been increased to $100,000

Through our investigator-initiated grant program, the FamilieSCN2A Foundation hopes to accelerate the development of therapeutic treatments and disease-modifying advancements for those living with changes in the SCN2A gene. This grant program is designed to facilitate preliminary investigations that will potentially lay the groundwork for subsequent grants from the government, industry, or other funding sources, including the FamilieSCN2A Foundation.

The FamilieSCN2A Foundation is interested in supporting research that advances understanding of the cellular, molecular, genetic and systems-level mechanisms of SCN2A related disorders. However, priority will be given to innovative projects which could potentially lead to therapeutic treatments or a cure for those with SCN2A related disorders.

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A full research grant will be funded by the FamilieSCN2A Foundation. FamilieSCN2A hopes to accelerate the development of therapeutic treatments and disease-modifying advancements for those living with changes in the SCN2A gene. Learn more at

 Application Guidlines

Our requests for applications (RFAs) serve a critical function in helping us fulfill SFARI’s mission (“to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance”). These open calls for scientific proposals are SFARI’s opportunity to consider some of the research community’s most creative and impactful ideas.

 Application for SFARI Grants

Announcing the 2021 Action Potential Grant Awardees:

Xiaoling Chen, Ph.D. & Jingliang Zhang, Ph.D.

Purdue University

In children carrying SCN2A variants, impaired motor function, repetitive behaviors, and altered sensitivity are physiological hallmarks. However, the basic cellular mechanisms that underlie this impaired sensory processing remain largely unknown. A key cellular level computation is synaptic and dendritic integration in neurons to form the overall action potential output. Our main hypothesis is that Scn2a deficiency will have a deleterious effect on dendritic spike-timing and plasticity, which affect inter-neuron communications contributing to behavioral impairments seen in affected children. This proposal aims to uncover the cellular level mechanism that leads to abnormalities in processing touch in a Scn2a-deficient mouse model, which may serve as a cellular target for the development of next generation interventions to alleviate behavioral impairment of affected children carrying SCN2A variants.

A critical role of Scn2a in cortical neuronal plasticity related to autistic behaviors

Roy Ben-Shalom Ph.D., Assistant Professor

UC Davis MIND Institute / UC Davis Health Department of Neurology

The SCN2A gene encodes the neuronal sodium channel Nav1.2, which is critical for the electrical activity of many types of neurons. Mutations in the gene alter the properties of the NaV1.2 channel, disrupting the function of single neurons and potentially leading to abnormal neuronal circuitry. Ultimately, these effects lead to epilepsy and/or ASD in affected patients. In this proposal, I will explore how alterations to the NaV1.2 channel affect the function of single neurons. Using computational models that simulate neuronal activity, we will study how each variant modulates single neuron activity and then simulate different drugs to see if they can reverse those effects.

Utilizing computational models to simulate the effects of SCN2A variants on neuronal excitability and testing potential therapeutics

Past Recipients: Action Potential Grant Awardees

Chenyu Wang, MS

UCSF / Bender Lab

NaV1.2 sodium channels encoded by SCN2A are expressed throughout the brain. One region where NaV1.2 channels are expressed at very high levels is the cerebellum. The cerebellum is involved in motor control, motor learning, and—recently identified—various aspects of social interaction typically seen in children affected by SCN2A-related disorders. With the help of the FamilieSCN2A Foundation, our goal here is to understand how cerebellar function is altered in mouse models that lack one Scn2a allele, which models aspects of loss-of-function in SCN2A. In doing so, we hope not only to gain a better understanding of how SCN2A-related disorders affect the brain, but also to develop quantitative biomarkers that can be utilized to evaluate therapeutics.


★ $50,000 – Research Grant (1 year project)

★ Understanding cellular and behavioral effects of Scn2a haploinsufficiency in cerebellar circuits

Muriel Eaton

College of Pharmacy, Purdue University / Yang Lab

SCN2A variants affect children in a variety of ways. In particular, SCN2A loss-of-function or nonsense variants, which lead to SCN2A deficiency, are strongly associated with neurodevelopmental disorders such as autism spectrum disorder (ASD). Yang lab has been working on a novel Scn2a deficient mouse model, aiming to study mechanisms underlying Scn2a deficiency and test for novel interventions. Muriel Eaton, a PhD candidate in Yang lab, has been exploring the Scn2a-deficient mouse model during her training, and already discovered many characteristics of this mouse model including profound social deficits and other neurodevelopmental abnormalities. For the next phase of their research, they will study how to reverse Scn2a-deficits in the mouse model and to develop potential gene therapy for SCN2A-related disorders, thanks to research funding particularly this grant from FamilieSCN2A Foundation.


★ $50,000 – Research Grant (1 year project)

★ Advancing gene therapy in a preclinical mouse model of SCN2A deficiency

Eduardo Pérez-Palma, PhD

Genomic Medicine Institute, Cleveland Clinic / Chile

Patients with SCN2A variants can manifest a broad range of clinical manifestations including mild to severe forms of epilepsy, intellectual disability, and autism spectrum disorders. In addition, benign SCN2A genetic variants with no clinical consequences can be found in the general population. When an SCN2A variant is detected, these outcomes are not possible to predict and variants are usually classified as of unknown significance. The inability to predict variant pathogenicity and patient outcomes not only limits clinical decision making but is also a stress factor for patients and their families. Here, we propose to integrate and study clinical and genetic variables from a large cohort of SCN2A patients. We will apply machine learning methods to model and predict SCN2A variant pathogenicity and outcomes. Finally, to overcome the underrepresentation of patients with non-European ethnicities in genetic studies we recruit and integrate a novel cohort of patients with SCN2A-related disorders from Latin America.


★ $50,000 – Research Grant (1 year project)

★ Integrating clinical and genetic variables to model SCN2A variant pathogenicity and outcomes

Sunita Misra, MD, PhD

Northwestern University / Lurie Children’s Hospital

*UPDATE December 2019*
In the past, anticonvulsant medications have not been tested for seizure reduction in mouse models of genetic epilepsy. Instead pre-clinical medication trials look at reduction of seizures induced with chemical or electrical stimulation. Recently Dr. Jennifer Kearney's lab at Northwestern University made a new mouse mode of SCN2A-related epilepsy. As part of her FamilieSCN2A Foundation Action Potential Grant, Dr. Sunita Misra is studying seizures in this new mouse model. Sunita's ongoing work shows that seizures in the new Scn2a mouse model are different than seizures caused by chemical or electrical stimulation. These differences may partly explain why many children with SCN2A-related early onset epilepsy have seizures that are difficult to control with current anticonvulsant medications. Further work will look at the effectiveness of FDA approved anticonvulsant medications at blocking seizures in the SCN2A mouse model.


★ $50,000 – Research Grant (1 year project)

★ Downstream Effects of SCN2A-Related Epilepsy

SCN2A dysfunction changes the way brain cells communicate both electrically and chemically leading to epilepsy and neuropsychological comorbidities. I will use EEG to identify seizure patterns and the role of sleep on seizures in a new mouse model of SCN2A-related epilepsy. Then I will look at neurotransmitter levels in the brains of mice with SCN2A-related epilepsy. I will use drugs that target the abnormal neurotransmitter levels to improve abnormal electrical and chemical signaling in the brain. This work may identify new druggable targets for better control of epilepsy and associated comorbidities in SCN2A-related epilepsy.

Caitlin M. Hudac, Ph.D., Assistant Professor

Center for Youth Development and Intervention (CYDI)

Department of Psychology

Brain Research Across Development (B-RAD) Lab

*UPDATE December 2019*
Research is a GO for Dr. Caitlin Hudac at the University of Alabama! Over the past 4 months, Dr. Hudac has been working on obtaining research approval, setting up her new equipment, and establishing her research lab called the Brain Research Across Development (B-RAD) Lab! She has 14 undergraduate research assistants that are working hard to learn about the brain and SCN2A. Kierra Irby is one Biology senior that will be working with Dr. Hudac on her SCN2A research. This December, we will begin to schedule the remaining participants. We still have some available slots for any families that would still like to participate — check out our website for more details!


★ $50,000 – Research Grant (1 year project)

★ SCN2A Neural Biomarkers of Attention

Aligned with the #FamiliesSCN2AFoundation mission to improve the lives of those affected by SCN2A-related disorders, this project aims to generate a candidate biological indicator (“biomarker”) that can be used to track changes in children with SCN2A disruptive mutations. This will be critical for developing and assessing the effectiveness of clinical interventions. For this project, 20 children with disruptive SCN2A mutations will wear an electroencephalography (EEG) net while watching movies. We will test an auditory attention brain biomarker and characterize how these brain responses to sounds relate to other aspects of the child’s behavior.

Do you have a newly diagnosed patient? Order awareness materials here;

The FamilieSCN2A Foundation works to create, and seeks to enhance a landscape that encourages investment in research by all stakeholders. This includes actively engaging and collaborating with pharmaceutical and biotech companies. The following requirements will help to ensure the highest level of ethical conduct is followed in the organization’s collaborations with these for-profit companies. The goal in engaging companies is to enable the development of therapies to meet patient needs while maintaining independence and neutrality as a patient organization.

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Company Engagement:

  • Board Members and members of the Scientific Advisory Committee will disclose any and all relationships with companies with whom the organization engages and will annually sign a statement agreeing to the organization’s Conflict of Interest Policy.
  • The organization will collaborate with companies, at its discretion and in consultation with its scientific advisors, which are conducting ethical, high-quality research in a responsible manner, according to industry and international regulatory standards.
  • The organization will actively seek the guidance and utilize the expertise of its Scientific Advisory Board throughout the process of working with each company.

Data Collection:
The FamilieSCN2A Foundation strongly advocates that all data about a family's medical history, genetic mutation, and all bio-specimens collected (DNA, cell lines, etc) should be in 'pre-competitive' space and should be freely available to any qualified researcher.

This practice helps to amass a large number of families with relevant medical information, which is critical to make progress on any rare disease. It is a strategy used by many other groups and is strongly endorsed by Simons VIP Connect (and made possible by their data platform). This ensures that any researcher with a good idea will be able to design experiments and potentially develop treatments. We are committed for the long term to make all de-identified data and samples available to the research community to make it easier for more scientists to work to find treatments for families. We strongly believe this arrangement is in the best interest of families and the entire SCN2A Community.

Patient Engagement:
To avoid any potential appearance of conflict of interest, Board Members, who have a fiduciary responsibility to the organization and direct the acceptance and use of funds provided by pharmaceutical companies, should not testify at regulatory hearings. Patients and members of the community with a connection to the pharmaceutical company, such as relatives of an employee or owners of stock in the company, should also not testify at hearings.

Financial Contributions:
The organization can accept donations from pharmaceutical companies; however, Board Members and staff may not receive honoraria to speak on behalf of the organization. Travel expenses incurred to participate in disease-awareness activities may be reimbursed directly to the individual or the organization.

Clinical Trial and Approved Therapy Communication:

  • The organization will disseminate accurate, fair and balanced information about clinical trials provided by a pharmaceutical or biotech company without additional commentary or opinion that may influence an individual’s decision to participate in a clinical trial or that may change the meaning of the information.
  • The organization does not communicate information in a manner that could be interpreted as advertising or promoting a drug or treatment that has not been approved.

The FamilieSCN2A Foundation recognizes the need for open lines of communication, connecting scientists, and forming partnerships with doctors, researchers, and patient organizations which help avoid duplication of efforts. We partner with organizations who share our priorities of finding effective treatments and a cure, and who share our integrity and values that support our mission. Global collaboration will get us closer to a cure of SCN2A related disorders.

Advocacy organizations, medical partners, industry or other parties interested in partnering with The FamilieSCN2A Foundation can contact Leah Schust, President and Founder, for more information.

SCN2A Anonymous Data Collection Survey

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Ways To Contribute

Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.


FUNdraising is not only about money, it also raises public awareness of SCN2A and the issues around rare diseases in general.

Raise Awareness

Share your story with friends and family, in private and/or through social media. Share our website with them.


Make a tax deductible donation directly to the FamileSCN2A Foundation to be used for raising awareness, research and supporting families

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Have a Party!

There are many direct sales vendors who would be happy to do a fundraiser for you.

Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!