Learning that your child or loved one has KCNA2-related epilepsy can feel overwhelming. With only a small number of known cases worldwide, it’s understandable to feel isolated or unsure where to turn.
This page is here to help you make sense of the medical terms, testing, and treatment options ahead. No matter where you are on your journey, whether you just got the diagnosis or have been searching for answers for a while, this page is designed to support you.
Table of Contents
So You Received A Diagnosis?
Doctors use several tools to diagnose KCNA2. These tests help confirm the condition, determine the type of seizure activity, and guide treatment decisions. While there is no single treatment, a combination of medication, therapy, and lifestyle adjustments can help improve quality of life.
Understanding Medical Reports & Test Results
Understanding medical reports and test results can feel like learning a new language. First, here are key tests doctors use and what they mean in everyday terms.
Clinical Assessments
EEG (Electroencephalogram)
An EEG records the brain’s electrical activity using painless electrodes placed on the scalp. It helps detect unusual patterns, like ‘burst-suppression’ or ‘spike and slow wave’ activity, that are often seen in KCNA2-related epilepsy. These patterns help doctors understand the type of seizures your child is experiencing.
In the U.S., many individuals undergo overnight video EEG monitoring up from one to three or four days, to capture brain activity during both sleep and wake states. This extended testing increases the chances of detecting seizure activity that may not appear during shorter EEGs. It also helps providers observe how the body behaves during a seizure, which can be especially important for developing a personalized treatment plan.
MRI (Magnetic Resonance Imaging)
Genetic Testing
What You’re Likely To Experience When Your Child Is Diagnosed
Receiving a diagnosis of KCNA2-related epilepsy can be an emotional rollercoaster. Many parents describe feeling a mix of shock, grief, relief, and anxiety all at once. You may have spent months or years searching for answers, only to receive a condition you may have never heard of before.
It’s okay to feel overwhelmed.
Common emotional responses include:
- Grief & Fear: Coming to terms with a lifelong condition can feel daunting.
- Relief & Validation: Finally having an answer can help explain years of uncertainty.
- Anxiety About the Future: What will treatment look like? Will my child be okay?
- Determination: Many parents channel their emotions into learning everything they can to advocate for their child.
KCNA2 Brings Families Together
It’s normal to feel like no one else could possibly understand what you’re facing, but others have been here too. Connecting with families on a similar journey can bring unexpected relief, shared insight, and a powerful sense of solidarity.
Assessing Genetics For Your Child Or Loved One
Why is genetic testing important?
- Confirms Diagnosis: While seizure activity can be observed through EEG, genetic testing determines whether KCNA2 is the cause.
- Guides Treatment: Certain KCNA2 variations respond differently to medications. Understanding whether your child has a 'gain of function' (GOF), 'loss of function' (LOF), ‘mix of function’ (MOF) or ‘unknown variation’ can influence treatment choices.
- Provides Answers for the Future: It helps families and doctors anticipate challenges and identify therapies that may be most effective.
- Genetic Testing Was Not Always Available: Although KCNA2-related epilepsy existed long before, the gene was only identified in 2015. This means that families who underwent genetic testing prior to that year would not have had KCNA2 included in their results.
When do families get genetic testing?
Not all families receive genetic testing right away. Some children are diagnosed after experiencing seizures in infancy, while others go through months, or even years, of unexplained symptoms before anyone suspects a genetic cause.
Before 2015, even when families pursued genetic testing, results often came back inconclusive, because the KCNA2 gene wasn’t yet included in the panels.
Today, testing is more comprehensive, but it’s not always offered immediately. In many cases, families don’t arrive at genetic testing until other paths have been exhausted; especially when a child doesn’t respond well to anti-seizure medications or continues to experience symptoms despite treatment. That’s often when doctors begin to suspect an underlying genetic condition and suggest testing.
This means some families receive answers quickly, while others may wait years. In some cases, results only come after older genetic data is reanalyzed using updated panels. If you’re in that in-between space, it’s okay to keep asking questions until you get clarity.
Every family’s path is different, and there is no right or wrong time to pursue genetic testing. If you have questions, talk to your doctor about whether it’s the right next step for your child.
Reading Your Genetic Report
How Long Does It Take To Get Results?
Genetic testing timelines generally range from 2 to 6 weeks, though more complex cases requiring additional analysis can take up to 12 weeks. Advances in sequencing technology have reduced delays, but factors like insurance approvals and test complexity can still affect wait times.
If results take longer than expected, ask your doctor about estimated timelines and whether further tests are necessary.
How To Read Your Genetic Report
A genetic report includes several key terms that describe your child’s variation.
Here’s how to interpret them:
- Protein Change: Indicates how the variation affects the protein structure. Example: p.R297Q means the protein now has Glutamine (Q) instead of Arginine (R) at position 297.
- Nucleotide Change: Shows the precise DNA change. Example: c.890G>A means a Guanine (G) was replaced with an Adenine (A) at position 890.
- Gene Symbol: KCNA2 is the gene linked to this condition.
- Inheritance Type: The report may note whether the variation was:
- De novo (new variation): Not inherited from parents.
- Maternal or Paternal: Passed down from one parent.
- Autosomal dominant/recessive or X-linked: Describes how the variation affects inheritance patterns.
What if your genetic report was given by someone other than your doctor?
Geneticists interpret the data, but they may not fully explain what living with KCNA2 means day to day. After receiving your report, schedule an appointment with your neurologist to discuss:
- How this genetic finding affects your child’s specific symptoms.
- What treatment options should be explored based on their variation.
- Whether additional tests or therapies are recommended.
- Long-term expectations and developmental considerations.
“We first raised concerns at Ilana’s well-baby checkups, but our worries about her speech delays were dismissed. At two and a half, a speech therapy center suggested an evaluation, where we first heard seizures might be a factor.
Our pediatrician resisted but finally referred us to a neurologist. She immediately ordered an EEG, suspected a genetic cause, and sent us for testing. When KCNA2 was confirmed, she explained it so well we never felt the need to see a geneticist.
From there, we connected with top epilepsy specialists and found the right care team.”
Alysha
Board Member
Establishing A Comprehensive KCNA2 Treatment Plan
Because KCNA2 impacts multiple areas of health, your child’s care team will likely include:
- Neurologists (for seizure management)
- Geneticists (to interpret genetic findings)
- Developmental pediatricians (to track progress and milestones)
- Endocrinologists (if metabolic issues arise)
- Nutritionists/Dietitians (to optimize diet and nutrient intake, supporting neurological and overall health)
- Speech, Occupational, and Physical Therapists (to support communication, movement, and daily activities)
Your team may change over time based on your child’s or loved one’s needs. It’s important to build a strong, communicative relationship with your specialists, to remain organized, and know that you are the lead for your child’s care team.
Medications & Adjustments:
There is no one-size-fits-all medication for KCNA2, and treatment may require trial and error. Your care team may need to try different anti-seizure medications, or combinations, to find what works best.
Medications should always be adjusted under medical supervision, especially since many require careful dosing to avoid side effects. Some children may respond well to a single medication, while others need ongoing adjustments.
At the same time, researchers around the world are working to better understand how specific KCNA2 variants affect how potassium channels function, and how that might guide treatment in the future.
From early-stage therapies designed to silence harmful gene activity, to drug repurposing strategies and investigations into dietary compounds that may help stabilize cell signaling, the field is evolving. Much of this research is still in its early stages, but it’s paving the way for more targeted approaches in the years to come.
Explore how research is shaping future KCNA2 treatment paths.
Managing Seizures & Developmental Support
Seizure onset varies by phenotype:
- Gain of function (Phenotype A): Seizures typically start in infancy.
- Loss of function (Phenotype B): Seizures may appear later (around 12 months), often worsening during sleep.
Beyond seizures:
- KCNA2 can affect motor skills, speech, learning, and social development. Ongoing therapy and educational support are crucial.
“Ilana started epilepsy medications right away, but KCNA2 is so rare that even top specialists were unsure of the best course of action. We tried multiple medications, some of which were initially effective but then wore off.
We’d increase the doses until we couldn’t anymore. She experienced paradoxical side effects: when a medication is supposed to cause weight gain, she’d lose weight. When a rescue medication should have made her sleepy, it would wake her up like a cup of coffee. It became clear that no one-size-fits-all approach works for KCNA2.”
Alysha
Board Member
Additional Support Needs (Education, Therapy, Behavioral Care):
Children with KCNA2 often require:
- IEPs (for those needing specialized instruction)
- 504 Plans (for students who require classroom adjustments but not specialized instruction)
Therapy Services
- Speech therapy for communication support
- Occupational therapy for fine motor and self-care skills
- Physical therapy for coordination and movement
Behavioral & Emotional Support
- Some children experience anxiety, attention difficulties, or sensory processing challenges that require specialized intervention.
Regional & Legal Considerations
- Education laws vary by state/country. Parents should explore local laws to ensure access to appropriate resources.
“Helping Aaron has been a journey of trial and error. A medical ketogenic diet failed, and medications required constant adjustment. Returning to a standard diet led to inflammation and setbacks, affecting his speech, mood, and focus. It took a team( nutritionists, integrative doctors, and specialists) to help rebuild his health. Now, we focus on whole-body wellness: nourishing foods, movement, rest, and targeted therapies. Managing KCNA2 is more than managing his symptoms, it’s supporting the whole person.”
McKayla
Board Member
Taking Care Of Yourself As A Caregiver
Caring for a child or loved one with KCNA2 is a journey that requires emotional and physical resilience. It’s easy to focus entirely on your child’s needs, but your well-being matters too.
What can help?
- Support networks: Connecting with other families can be invaluable. Many parents find solace in speaking with others who understand their journey.
Respite care options: Taking short breaks to recharge is essential. Even a few hours away can help prevent burnout.
- Therapeutic outlets: Counseling, meditation, or simple stress-management techniques can be beneficial.
- Managing expectations: Some days will be harder than others. Give yourself grace and celebrate small victories.
Remember that while KCNA2 is rare and the journey can feel isolating, there is a growing community of families who understand. Prioritizing your own well-being is just as important as caring for your child or loved one.
Understanding KCNA2 FAQ’s
Is KCNA2 always present at birth?
Yes, KCNA2 is a genetic condition, meaning the variation is present from birth. However, symptoms may not always appear right away, or at all. While most individuals with a KCNA2 variation do develop symptoms, there have been rare cases where a parent was unaware they carried the variation until their child was diagnosed.
Routine genetic testing for KCNA2 is not currently done at birth, so most diagnoses happen only after symptoms appear, such as seizures, developmental delays, or movement challenges. This can occur in infancy, toddlerhood, or even later, depending on the severity of symptoms and how quickly doctors suspect a genetic cause.
What does my genetic report mean?
Your genetic report identifies specific variations in the KCNA2 gene, which can impact how potassium channels in the brain function.
It will tell you:
- Whether your child has a gain of function, loss of function, or mixed function variation, this can affect how seizures present and respond to treatment.
- If the variation was inherited or occurred de novo (newly in your child).
- How this variation relates to other known cases of KCNA2-related epilepsy.
How do I talk to my doctor about KCNA2?
When discussing KCNA2-related epilepsy with your doctor, consider asking:
- What does my child’s specific variation mean for treatment?
- What medications or therapies are best for this type of KCNA2 variation?
- Are there any clinical trials or research studies available?
- What specialists should be part of my child’s care team?
- What developmental milestones should I be monitoring?
What therapies can help my child or loved one?
A combination of therapies can support your child’s development, mobility, and communication:
- Physical Therapy (PT): Helps with balance, coordination, and motor development.
- Occupational Therapy (OT): Supports fine motor skills, daily living tasks, and sensory processing.
- Speech Therapy: Assists with language development, communication tools, and feeding challenges.
- Behavioral & Developmental Therapy: Addresses learning differences, attention challenges, and social skills.
- Alternative Approaches: Some families find success with music therapy, hydrotherapy, and adaptive sports.
How long does it take to get genetic testing results?
Genetic testing timelines generally range from 2 to 6 weeks, though more complex cases requiring additional analysis can take up to 12 weeks. Advances in sequencing technology have reduced delays, but factors like insurance approvals and test complexity can still affect wait times.
If results take longer than expected, ask your doctor about estimated timelines and whether further tests are necessary.
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KCNA2 Epilepsy Foundation | A 501(c)(3) nonprofit organization
