What Are KCNT1-related Disorders

For Parents & Caregivers of Children with KCNT1-related Epilepsy

KCNT1-related Epilepsy Diagnosis

Learning that your child has a KCNT1 gene mutation can be confusing and scary. But every child is unique, and so symptoms can look very different from one child to another. We want to help you get the best care from the start, because early decisions can make a big difference.

We can’t give medical advice, but we can help you know what to ask your doctors. We also have a network of parents who support each other. Please reach out to us if you have questions.

What is KCNT1-related Epilepsy?

KCNT1 is a gene that affects how electrical signals work in the brain. When there’s a mutation in this gene, it can cause too much electrical activity, leading to seizures. KCNT1 mutations are linked to several epilepsy syndromes, including several early-onset and a later onset type:

Early-onset epilepsies

  • Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) or Migrating Partial Epilepsy of Infancy (MMPSI).
  • Epileptic encephalopathy (EE) – a severe form of epilepsy that impacts brain development.
  • Infantile Spasms can sometimes be the first symptom in children with KCNT1 variants and evolve to EIMFS.

Later-onset epilepsy: Sleep-Related Hypermotor Epilepsy (SHE), previously called Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

Other syndromes associated with KCNT1 can include Ohtahara and West syndromes.

Some people with KCNT1 mutations may also develop heart or lung issues, including abnormal blood vessels, such as aortic or pulmonary collaterals. These need to be carefully monitored.

It’s important to talk with a genetic counselor if KCNT1 is listed on a genetic test—even if there are no symptoms.

EIMFS or MMPSI– Onset Before 6 Months

Seizures often begin before 6 months of age and increase in frequency and severity, negatively impacting neurodevelopment and often resulting in regression and severe developmental disabilities. Other names: Epilepsy of Infancy with Migrating Focal Seizures (EIMFS), Early Infantile Epileptic Encephalopathy, MMPSI or Migrating Partial Epilepsy of Infancy. Seizures may be difficult to detect but the child may get hiccups, stop breathing, turn blue, or sweat moderately, shaking or stretching with pauses and posing postures. Seizures in EIMFS are resistant to medication and can progress to nearly continuous by age six to nine months. This can result in prolonged seizures or status epilepticus.

Sleep-Related Hypermotor Epilepsy (SHE) – Seizures Occur After 6 Months

Sleep-Related Hypermotor Epilepsy (SHE) or Autosomal Dominant Sleep-Related Hypermotor Epilepsy (ADSHE) can cause seizures mainly during sleep. Some are mild; others include wild movements or behavior that can look like night terrors. Seizures in SHE usually start later than in EIMFS and may be inherited from a parent. See our page on sleep disturbances. Read more.

How Is It Diagnosed?

KCNT1-related epilepsy is diagnosed using genetic testing. Doctors look for a specific mutation in the KCNT1 gene.

In EIMFS/MMPSI, the mutation usually appears for the first time in the child (de novo).

In ADSHE, the mutation is often inherited from a parent.

Whole genome or exome testing is the most complete option and is recommended when possible. Make sure your testing is done by a certified genetics lab.

Treatment Options

The first goal of treatment is to reduce or stop seizures. Many common seizure medications don’t work well for KCNT1. Some treatments that families and doctors have tried include:

  • Ketogenic diet – often helps reduce seizures. Consider re-trying if it didn’t help in infancy.
  • Common meds include Phenobarbital, Topamax, Tegretol, Clobazam and Levetiractam
  • Cannabidiol (CBD) – some report improvements, but more research is needed
  • Vagus Nerve Stimulator (VNS) – some benefit in a few patients

Emerging Therapies

  • Precision treatments in development: ASOs and small molecule therapies
  • New anti-seizure meds like Fenfluramine, Cenobamate, and Bexicaserin are being studied

Other symptoms also need care:

  • Feeding problems – may require a feeding tube (temporary or G-tube)
  • Digestive and urinary issues
  • Low muscle tone and motor delays
  • Sleep apnea or night-time seizures – may need alarms and monitors
  • Abnormal lung or heart blood vessels – can lead to serious health risks and may need treatment like embolization

Supportive tools like special beds, walkers, and adapted toys can help with development and comfort. Families often work with therapists to create fun and helpful ways to support their child’s learning.

Caring for a child with KCNT1 epilepsy is challenging, but you are not alone. A strong care team and a supportive community make a big difference.

Managing Day-to-Day Needs

Feeding and Nutrition

  • Many children have trouble swallowing or absorbing nutrition.
  • Feeding tubes (GJ or Nissen fundoplication) are common and often improve quality of life.

Therapies

  • Early physical, occupational, and speech therapy can support milestones.
  • Keep sedating medications in check—balance alertness and therapy engagement.

Home Safety

  • Seizure-safe bedding, sleep monitors, and adapted equipment can help.

Multisystem Impacts
While primarily neurological, KCNT1 mutations can affect:

  • Gastrointestinal system: reflux, constipation
  • Muscle tone & bones: hypotonia, hip dysplasia, mobility concerns
  • Respiratory: feeding-related aspiration, breathing problems
  • Heart: In rare cases, abnormal vessels or arrhythmias

What to Watch For
Discuss a full-body approach with your care team. Some symptoms, like silent reflux or movement issues, may need early intervention.

Mental and Emotional Support

  • This journey can feel isolating. We connect parents to each other and to professionals who understand.
Symptom & Treatment Guidelines

Downloadable KCNT1 Information Sheets

If you don’t see your preferred language, download the English version and translate it with your translator of choice. (Please note, these handouts were last updated in 2021 and may have changed.)

“Celebrate the little things always,
to us those are big things!”

TIPS FOR FAMILIES WHO WERE RECENTLY DIAGNOSED

  1. Take a deep breath! 
  2. Find a pediatric epileptologist (epilepsy specialist)  
  3. Obtain a copy of your genetic reports 
  4. Request a heart check-up with EKG
  5. Start a folder to track medications, symptoms, seizures (number and duration) 
  6. Develop a seizure action plan with your epileptologist (Epilepsy Foundation) 
  7. Understand all medications and proper use of rescue drugs, ensuring you have plenty on hand. 
  8. Understand risk of SUDEP (ask your epileptologist about whether a monitor could be useful) 
  9. Apply for assistance – Medicaid programs can help with costs of care 
  10. Get referrals for support services such as physical/occupational/vision therapy and equipment (shower chair, stander) 
  11. Discuss the ketogenic diet as an option for seizure management with your doctor 
  12. Talk to your family and other children about the condition 
  13. Find a parent support group (there are several Facebook groups for KCNT1 specifically as well as epilepsy more generally) 
  14. Create a seizure diary through the Epilepsy Foundation   
  15. Start a Caregiver Respite notebook from Child Neurology Foundation 
  16. Enroll in the patient registry here

There are many resources online and in your local community.

We have curated links on our Resources page. 

Types of Healthcare Specialists You May See In Addition to Your Epileptologist

  • Developmental Pediatrician
  • ENT – Ear Nose and Throat 
  • Epileptologist 
  • Endocrinologist 
  • Gastroenterologist 
  • Geneticist 
  • Occupational, Speech, Physical and Vision Therapist 
  • Ophthalmologist 
  • Orthopedist 
  • Pediatric Neurologist 
  • Palliative Care 
  • Physiatrist 
  • Psychologist 
  • Pulmonologist 
  • Urologist 
    For more information about other specialists click here

Associated Medical Conditions

  • Autism spectrum disorder 
  • Cerebral Palsy (spasticity, hypotonia) 
  • Cardiac and pulmonary defects 
  • Cortical Vision Impairment 
  • GI Dysfunction (Reflux & constipation) 
  • Global Developmental Delays 
  • Intellectual Disability (like autism and Fragile X) 
  • Movement Disorders (ataxia, dystonia) 
  • Neuropathic Pain 
  • Sleep Disorders 
  • Speech and Language Impairments 
  • Sudden Infant Death Syndrome Risk 
  • Urology problems (infections & urinary retention) 

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