KCNQ2 Cure Alliance

Cycle 3

Web:

https://www.kcnq2cure.org

Contact:

Mutations in the KCNQ2 gene are responsible for a spectrum of neonatal-onset epilepsy syndromes, encompassing both severe early-onset epilepsies known as developmental and epileptic encephalopathies (DEEs), as well as milder forms referred to as self-limited (benign) neonatal epilepsies. The impact of these genetic variations can vary widely, leading to diverse symptoms and varying degrees of disorder severity based on the specific type of KCNQ2-related epilepsy an individual has.

Last updated 04/30/2026

Clinical

Disease Class

Channelopathies

Epilepsy and seizure disorders

Genetic diseases

Intellectual disability and developmental syndromes

Neurological diseases

Body Systems

Nervous / Sensory

Organs

Bladder

Bones

Brain

Eyes

Heart

Intestines

Lungs

Muscles

Spinal cord

Stomach

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

KCNQ2

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

De novo

Newborn Screening

No, but we are in the process of requesting the addition of our gene(s)

Disease Mechanism(s)

Abnormal channel conductance

Abnormal channel regulation

Altered channel kinetics

Ion channel dysfunction

Age of Onset

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

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

autism

autistic behavior

behavioral changes

cognitive impairment / confusion / brain fog

feeding difficulties

gastrointestinal disorders

hypotonia

movement disorders / ataxia / tremor

seizures / epilepsy

speech problems / apraxia

vision problems

Biomarkers

Diagnostic

· EEG

Monitoring

· EEG

Other

· 1. Clinical Biomarkers: Seizure Onset and EEG Pattern 2. Molecular and Cellular Biomarkers: Altered Potassium Channel Function

Prognostic

· EEG

Therapeutic

· EEG, Mutation Type and Location

Existing Therapies

Other

· anti-seizure medications and drugs approved for other symptoms

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Gene therapy

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Not specified

Organizational & Research

Cell Lines

iPSCs

Cell Lines, Institution

Boston Children's Hospital

Northwestern University

University of Antwerp

Cell Lines, Involvement

Consulted

Funded

Cell Lines, share

Unsure

Disease Model

Mouse

Disease Model, Involvement

Consulted

Designed

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

None

Clinical Trial Role

Data sharing

Focus group

Recruitment and outreach, patients

Study material design, review (not protocol)

Study protocol design, review

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Phase 4

Biobank, Institution

COMBINEDBrain

Biobank, Involvement

Funded

Center of Excellence, Institution

None

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

Platform, Natural History Study

Citizen Health

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-11 code

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Research Roadmap

Yes we have a Research Roadmap, but will not share policies

Oceania

Europe

North America

Oceania