KCNT1 Epilepsy Foundation

Cycle 3

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KCNT1 is a channel that affects the flow of electricity in the brain and sometimes in the heart. This channel is found throughout the body, and mutations in KCNT1 result in increased electrical flow through the potassium channels. This primarily results in problems in electric electrical activity in the brain, which can cause seizures.

Last updated 04/30/2026

Clinical

Disease Class

Channelopathies

Ciliopathies

Epilepsy and seizure disorders

Genetic diseases

Intellectual disability and developmental syndromes

Multi-system genetic syndromes

Neurological diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Muscular / Skeletal

Nervous / Sensory

Respiratory

Organs

Arteries

Brain

Ears

Eyes

Heart

Intestines

Lungs

Muscles

Nerves

Spinal cord

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

KCNT1

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

De novo

Newborn Screening

Yes, in some states

Disease Mechanism(s)

Abnormal channel conductance

Abnormal channel regulation

Altered channel kinetics

Cell signaling defects

Cilia dysfunction

Ion channel dysfunction

Neurotransmitter synthesis/metabolism defect

Age of Onset

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Early childhood (age 1+-5)

Infancy (age 0-1)

Life Expectancy

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

101-1000

Global Prevalence

10000+

National Incidence

11-50

Global Incidence

51-100

Symptoms / Phenotypes

epileptic encephalopathy

seizures / epilepsy

Biomarkers

None

Existing Therapies

None

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Devices/medical equipment

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

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

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Sample provision

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Plasma

Cell Lines, Institution

Boston Children's Hospital

Northwestern University

University College London (UCL)

Van Andel Institute

Cell Lines, Involvement

Consulted

Funded

Own

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Mouse

Disease Model, Involvement

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Yes, relationship management, research infrastructure development, therapeutic development

Clinical Trial Role

Data sharing

Focus group

Meeting with regulators

Other consulting

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Study material design, review (not protocol)

Study protocol design, review

Clinical Trial Types

Observational

Phase 1

Biobank, Institution

Van Andel Institute

Biobank, Involvement

Consulted

Funded

Own

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

Other

Platform, Registry

IAMRARE

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Retrospective 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-10 code

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

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None

Europe