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 Hodgkin-Huxley Research Grant

The FamilieSCN2A Hodgkin-Huxley Grant program was created to honor the achievements of Dr. Alan Hodgkin and Dr. Andrew Huxley and their innovative modeling of action potentials, as well as their contributions which laid the groundwork for neuroscience research on the molecular, cellular, and circuit levels.

Unsolicited, year-round LOIs accepted. Full application invitations on a rolling basis as long as funds are available.

 Learn More    Funded Research

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.

A maximum of 10% indirect costs (IDC) can be requested. The total amount requested, inclusive of IDC, cannot exceed $100,000.00.

 Learn More    Funded Research


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    Funded Research

Our Requests for applications (RFAs) serve a critical function in helping us fulfill Charles A. King Trust’s mission (to “support and promote the investigation of human disease and the alleviation of human suffering through improved treatment”.) These open calls for scientific proposals are Charles A. King Trust’s opportunity to consider some of the SCN2A research community’s most creative and impactful ideas.

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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

The Whitehall Foundation aims to support scholarly research in the life sciences that is not heavily supported by federal agencies or other foundations with specialized missions. The foundation is focused on supporting young scientists at the beginning of their careers and productive senior scientists who wish to move into new fields of interest. The foundation invites LOIs for two grant programs:

Research: Grants of up to $100,000 per year for two to three years will be awarded to established scientists working at accredited institutions in the United States. Grants will only be awarded to investigators who have received or expect to receive substantial support from other sources, even if it is for an unrelated purpose.

Grants-in-Aid: One-year grants of up to $30,000 will be awarded to researchers at the assistant professor level who experience difficulty in competing for research funds because they have not yet become firmly established. Grants-in-Aid can also be made to senior scientists.

 More Information

Announcing the 2023 Hodgkin-Huxley Awardees:

Kevin Bender

Bender Lab, UCSF

SCN2A loss of function, where a child has too little SCN2A, can lead to life-long difficulties in executing complex tasks. The first goal of this project is to determine whether similar difficulties can be observed in mice with Scn2a loss of function. Furthermore, we will evaluate whether deficits in these behaviors, as well as others we are exploring in the lab, are rescuable with gene therapy approaches that restore Scn2a levels to those found in neurotypical children. Here, our goal is to evaluate these therapies across a range of ages, with the goal of determining which aspects of behavior can be rescued later in life. This will help us understand developmental windows of opportunity for future clinical trials in children and, potentially, young adults.

Yang Yang

Yang Lab, Purdue University

Hundreds of different SCN2A genetic variants have been identified in children with autism or epilepsy. While some of them could be grouped into gain-of-function or loss-of-function variants, others are more complex. In particular, a splice-site variant of SCN2A has been identified in a child with autism. However, how this variant affects the Nav1.2 channel and neuronal activities is completely unknown, hindering the development of targeted interventions. The recent molecular and genomic revolution, including CRISPR-based genome editing technologies, offers enormous promise for treating genetic disorders like SCN2A-related disorders in an n=1 precision medicine manner. Funded by this inaugural Hodgkin-Huxley Research Award, Yang's lab will establish human-induced Pluripotent Stem Cells (hiPSCs) and rodent models of this SCN2A splice-site variant to understand disease mechanisms with clinical translation in mind. Disease phenotypes and global gene expression profiles will be studied to inform drug discovery. Yang lab will also develop cutting-edge gene therapy interventions aiming at correcting this SCN2A genetic variant in tiered model systems to bolster the translation potential of these transformative interventions. Moreover, Yang lab will be exploring next-gen chimeric mouse models with human cells to uncover in vivo phenotypes of human cells carrying SCN2A genetic variants to further increase the predictive value of preclinical disease models. These initial studies are expected to pave the way toward the ultimate clinical translation of promising interventions to improve the quality of life of individuals affected by SCN2A-related disorders.

Rikke Steensbjerre Møller

Danish Epilepsy Centre, Filadelfia/University of Southern Denmark

Bridging the gap between ongoing knowledge and clinical practice – establishment of an international SCN2A database

The aim of this collaborative project between Rikke Møller's and Dennis Lal’s research teams is to establish and maintain an international SCN2A database that can be used to study genotype-phenotype relationships in SCN2A-related disorders. The database will help to record the number of individuals per pathology as well as their distribution. Furthermore, data from the database can help describing the natural history of SCN2A-related disorders, identifying outcome measures and put the basis for drug trial readiness. The specific aims of the study are: 1) To establish and maintain a database including clinical, genetic and epidemiological data of all published individuals with SCN2A-related disorders 2) Assess all reported variants and classify according to the American College of Medical Genetics and Genomics guidelines and 3) integrate all data in the existing SCN portal ( – an interactive website designed to provide updated and comprehensive information on SCN2A-related disorders.

Announcing the 2022 Action Potential Grant Awardee:

Yuliya Voskobiynyk / Vivianna Denittis

UCSF Gladstone Institute

The goal of the project is to understand the role a deep brain region known as the thalamus may play in the generation of epileptic episodes in SCN2A-related disorders (SRD). We will focus on the thalamus because it is known to play a central role in other types of seizure disorders, as well as in sleep, attention, and cognitive processing, which are all known to be affected in SRD patients. The central hypothesis is that a reduction in SCN2A gene function causes alterations in the neurons and neuronal circuits connecting the thalamus to the brain cortex. We will test this hypothesis by investigating the electrical properties of these neurons and circuits in mice lacking one copy of the SCN2A gene.

Past Recipients: Action Potential Grant Awardees

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

Purdue University

In children carrying SCN2A variants, impaired motor function, repetitive behaviors, social deficits, and altered sensitivity are physiological hallmarks. However, the basic cellular mechanisms that underlie these altered behaviors remain largely unknown. Xiaoling Chen, a postdoc researcher in the Yang lab, is investigating Scn2a-related disorders using in vivo calcium imaging of freely moving mice as well as brain organoids derived from human induced pluripotent stem cells. Funded by the Action Potential Award from the FamilieSCN2A Foundation, Xiaoling’s research aims to identify novel cellular targets for the development of next-generation interventions to alleviate behavioral impairments of affected children carrying SCN2A variants.

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

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

"Our lab focuses on the study of the genetics underlying epilepsy and neurodevelopmental disorders. We study which genetic variants can cause disease and how they can drive disease prognosis, comorbidity, and drug response. Specifically, our research aims to: 1) Unveil the effect of common, rare and structural genetic variation in cases and controls collected from an international collaborative network. 2) Develop tools for variant interpretation by integrating large scale data derived from patients and the general population. 3) Study epilepsy and neurodevelopmental disorders presentation in Latin America. South American countries have a higher prevalence of epilepsy, yet they are underrepresented in current genetic studies. We study Mapuche individuals, Chilean epilepsy cases and controls and patients with SCN2A-related disorders. Overall, our lab is growing a research profile focusing on interdisciplinary genomics and data science to bridge novel genetic knowledge with clinical practice – paving the way for personalized medicine with a particular focus on Latin American populations".


★ $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

The Brain Research Across Development (B-RAD) Lab is directed by Dr. Caitlin Hudac, faculty at the University of South Carolina. Dr. Hudac is the Director of the Carolina Autism and Neurodevelopmental (CAN) Center Steering committee.

The B-RAD Lab studies how the brain changes as infants, children, and adults learn about the world, including individuals with neurodevelopmental disorders and/or SCN2A mutations. Dr. Hudac leads the BioGENE Study (Biomarkers of Genetic Etiology of Neurodevelopmental disorders) that is funded via a FamiliesSCN2A Foundation Action Potential Grant. Together with her earlier work, her team has recorded brain waves using electroencephalography (EEG) from over 40 individuals with SCN2A mutations. The goal of this study is to learn about the SCN2A brain (compared to other individuals with a neurodevelopmental disorder)– including general organization, how attention shifts over time, and patterns of learning. We work closely with other scientists to inform preclinical models (e.g., Drosophila and mouse models) and establish reliable biomarkers to use to evaluate clinical trials and treatment success.


★ $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.

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.

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.


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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!