International SCN8A Alliance
Cycle 3
An SCN8A mutation can lead to a range of issues relating to brain development and physical health with a wide array of impacts on the body’s systems and functions. Some with SCN8A experience no seizures, while others have treatment resistant epilepsy.
Last updated 04/30/2025
Clinical
Disease Class
Cardiac diseases
Channelopathies
Gastroenterological diseases
Genetic diseases
Neurological diseases
Renal diseases
Respiratory diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Bladder
Bones
Brain
Esophagus
Heart
Intestines
Kidneys
Liver
Lungs
Mouth / teeth
Muscles
Nerves
Spinal cord
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
SCN8A
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Abnormal channel regulation
Ion channel dysfunction
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Prebirth
Average Age at Diagnosis
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
10000+
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
attention disorders / ADHD
autism
autonomic nervous system problems
behavioral changes
constipation
developmental delay
feeding difficulties
gastrointestinal disorders
hypotonia
intellectual delay / global developmental delay
movement disorders / ataxia / tremor
seizures / epilepsy
sleep disorders
speech delay
vision problems
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
Mouse
Organoids
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Data analysis
Data sharing
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Study material design, review (not protocol)
Study protocol design, review
Biobank, Institution
University of Maryland School of Medicine
Biobank, Involvement
Consulted
Center of Excellence, Institution
Children's Hospital of Colorado
Children's National Hospital
UTHealth Houston (The University of Texas Health Science Center at Houston)
Center of Excellence, Involvement
Consulted
Designed
Funded
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
REDCap
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Asia
Europe
South America