SCN2A Germany e.V.
Cycle 3
SCN2A is the name of a gene which can cause a rare brain disease through mutations (e.g. replacement of DNA building blocks). The disease can occur at different times (before or after birth or later in childhood) and have a wide variety of manifestations.
Last updated 04/30/2026
Clinical
Disease Class
Gastroenterological diseases
Genetic diseases
Intellectual disability and developmental syndromes
Muscular and neuromuscular diseases
Neurological diseases
Ophthalmic diseases
Body Systems
Digestive
Endocrine
Nervous / Sensory
Organs
Bones
Brain
Intestines
Muscles
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition
Causative Genes
SCN2A
Contributory Genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Abnormal channel conductance
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Infancy (age 0-1)
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
51-100
Global Prevalence
1001-10000
National Incidence
11-50
Global Incidence
11-50
Symptoms / Phenotypes
autism
seizures / epilepsy
Biomarkers
Diagnostic
· genetic testing
Monitoring
· EEG, MRI, Clinical assessment
Prognostic
· genetic variant, if it is characterized
Therapeutic
· Seizure frequency
Existing Therapies
Drugs used off-label
Expanded access (Compassionate Use)
Regulatory Agency-Approved for Symptom Relief
· anti-seizure medication, medication against movement disorders, sedatives
Therapies in Development
Antisense oligonucleotide (ASO) therapy
Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)
· Ketogenic diet / modified Atkins (supportive)
Gene therapy
· CRISPR/Cas, AAV‑mediated activation (preclinical)
RNA interference (RNAi) therapy (siRNA, etc.)
· Experimental RNAi constructs preclinical
Repurposed drug
· Relutrigine (PRAX‑562)
Small molecule therapy (novel small molecule drugs)
· Relutrigine (PRAX‑562) Bexicaserin (LP352, AN352)
Therapeutic Development Stages
In clinical trials (Phase I, II, III, or IV)
In preclinical development
In research/exploratory phase
Therapeutic Development Role
Access to registry or natural history study
Other
· International Conferences for networking and knowledge sharing
Recruitment and outreach to patients
Organizational & Research
Cell Lines
None
Disease Model
None
Organizational Challenges
Research infrastructure for US drugs in Europe
Clinical Trial Role
Recruitment and outreach, patients
Results dissemination, publication
Study protocol design, review
Clinical Trial Types
Other
Biobank, Institution
None
Center of Excellence, Institution
Universitätsklinikum Bonn
Center of Excellence, Involvement
Funded
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Genetic data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
RARE-X
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
We use an ICD-11 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
No
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Does not have a CRN
Patient Priority Survey
Yes
Patient Priority Survey, share
Yes, will share
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe
North America
Oceania
South America
Other International Research Initiatives
Europe
North America
Oceania