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 04/30/2025
Clinical
Disease Class
Channelopathies
Neurological diseases
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)
Abnormal channel regulation
Ion channel dysfunction
Pathogenic mutation
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Life Expectancy
Elderly (age 65+)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
11-50
Global Prevalence
51-100
National Incidence
Less than 10
Global Incidence
Less than 10
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
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
LCLs
Cell Lines, Institution
Universitätsklinikum Tübingen
Cell Lines, Involvement
Consulted
Cell Lines, share
Unsure
Disease Model
Not specified / unknown
Disease Model, share
N/A
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
REDCap
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
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None