FamilieSCN2A Foundation
Cycle 2
The SCN2A gene is located on the long (q) arm of chromosome 2 at position 24.3. SCN2A encodes instructions to make a protein in the brain called a sodium channel which plays a key role in a cell’s ability to generate and transmit electrical signals. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain. A deletion or mutation of this gene can cause autism, epilepsy, and other neurological issues, such as movement disorders, dystonia, and dysautonomia.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Nervous / Sensory
Organs
Brain
Genes
SCN2A
Type of Inheritance
Autosomal dominant
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Infancy (age 0-1)
Incidence
11-50
Prevalence
10000+
Symptoms / Phenotypes
autism
autistic behavior
behavioral changes
feeding difficulties
gastrointestinal disorders
hypotonia
movement disorders / ataxia / tremor
seizures / epilepsy
vision problems
Biomarkers
Diagnostic
· EEG
Monitoring
· EEG
Prognostic
· EEG
Therapeutic
· EEG, VOR
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· ketogenic diet
Drugs approved for the symptoms
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Nationwide Childrens Hospital
Simons Foundation Autism Research Initiative (SFARI)
University of Iowa
Cell Lines, share
Unknown
Disease Model
Mouse
Organoids
Rat
Zebrafish
Disease Model, location
Harvard University
Korea Advanced Institute of Science and Technology (KAIST)
Nationwide Childrens Hospital
Northwestern University
Purdue University
University of California San Francisco (UCSF)
University of Iowa
Disease Model, share
Unknown
Clinical Trial Role
Data sharing
Focus group
Funding
Meeting with regulators
Outcome measures, development
Patient and caregiver education
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Biobank
Nationwide Childrens Hospital
Sampled
Simons Foundation Autism Research Initiative (SFARI)
Center of Excellence
Colorado Children's
UTHealth Houston (The University of Texas Health Science Center at Houston)
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
IAMRARE
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Not specified
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
Asia
International Partners
Europe
Middle East
North America
Oceania
South America