KCNA2 Epilepsy, Inc.
Cycle 3
KCNA2 epileptic encephalopathy is a seizure disorder caused by a variation on the KCNA2 potassium channel. The variation in the KCNA2 gene causes the potassium channel to function improperly. Depending on the variation, the KCNA2 channel may be hyperexcitable (gain of function), electrically silenced (loss of function), or have a combination of both excitability (gain) and silence (loss) of function. All three types cause various types of seizures and other neurological challenges.
Last updated 04/30/2026
Clinical
Disease Class
Channelopathies
Body Systems
Digestive
Respiratory
Organs
Brain
Known Genetic Link
Yes, one or more genes directly cause the condition
Causative Genes
KCNA2
Contributory Genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Unknown
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Life Expectancy
Elderly (age 65+)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
11-50
Global Prevalence
51-100
National Incidence
11-50
Global Incidence
11-50
Symptoms / Phenotypes
attention disorders / ADHD
autism
developmental delay
feeding difficulties
gastrointestinal disorders
hearing loss / hearing impairment
hypertonia
hypotonia
intellectual disability
movement disorders / ataxia / tremor
seizures / epilepsy
sleep disorders
speech problems / apraxia
vision problems
Biomarkers
Diagnostic
· genetic testing for KCNA2
Monitoring
· EEG's
Prognostic
· GOF, LOF or MOF
Therapeutic
· Ampyra (or 4-AP) for GOF only
Existing Therapies
Off-Label Drug Use
Therapies in Development
Antisense oligonucleotide (ASO) therapy
Cellular therapies (stem cell transplants, CAR-T therapies, etc.)
Gene therapy
Other (please specify)
· how DHA may affect how the KCNA2 gene functions
Repurposed drug
· unspecified
Small molecule therapy (novel small molecule drugs)
Therapeutic Development Stages
In research/exploratory phase
Therapeutic Development Role
Access to registry or natural history study
Data sharing
Focus group participation or coordination
Funding
Recruitment and outreach to patients
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
Unsure
Disease Model
None
Disease Model, share
N/A
Organizational Challenges
Not applicable
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Data Entered by, Registry
Both
Platform, Registry
REDCap
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Medication usage
Patient-reported outcomes
Retrospective data
Platform, Natural History Study
Other
FDA Patient Listening Session
No
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
Science Advisory Board Policies
Yes, not willing to share SAB policies
Research Network Policies
Has CRN but no policies
Patient Priority Survey
No
Research Roadmap
Yes we have a Research Roadmap, but will not share policies
International Chapters
None
International Partners
None