Hello everyone,
November is Epilepsy Awareness Month, a time to shine a light on the millions of people worldwide living with seizures and to raise understanding about the many causes behind them. While epilepsy is often viewed through the lens of neurology and medication, genetics plays a surprisingly large and sometimes overlooked role in why seizures happen.
At MKGenetix, we believe that learning the why behind a diagnosis can change everything. In this post, we’ll explore how genetics contributes to epilepsy, when testing is worth considering, and how genetic counseling can bring clarity, direction, and hope to individuals and families living with seizure disorders.
Understanding Epilepsy: A Spectrum, Not a Single Condition
Epilepsy isn’t one disease. It’s a group of neurological disorders marked by a tendency to have recurrent seizures. These seizures can look different from person to person: brief staring spells, muscle jerks, or full-body convulsions.
For some, seizures develop after a brain injury, infection, or stroke. But for many, especially children and young adults, no clear cause is found on MRI or EEG. That’s where genetic testing comes in.
Over the last decade, scientists have discovered hundreds of genes linked to epilepsy, including SCN1A, KCNQ2, CDKL5, DEPDC5, and PCDH19, among others. Changes in these genes can affect how brain cells communicate, leading to abnormal electrical activity and seizures.
When to Consider Genetic Testing for Epilepsy
Genetic testing isn’t needed for everyone with epilepsy, but it can be incredibly valuable in certain situations, including:
- Seizures beginning in infancy or early childhood
- Epilepsy with developmental delays or autism
- Family history of epilepsy or unexplained seizures
- Drug-resistant seizures (when medications aren’t working as expected)
- Other symptoms suggesting a genetic syndrome (e.g., low muscle tone, movement issues, or distinct facial features)
Finding a genetic explanation doesn’t just offer closure; it can directly influence treatment choices and help predict which medications might work best.
Why a Genetic Diagnosis Matters
A positive genetic result can:
- Guide treatment. Some gene-related epilepsies respond best to certain medications (and may worsen with others).
- Inform prognosis. Knowing the underlying cause can clarify what to expect over time.
- Support family planning. It can help relatives understand their own risk or make informed reproductive decisions.
- Provide community. Many families find comfort connecting with others who share the same diagnosis.
Even when testing doesn’t find a clear answer, ruling out specific conditions can still help narrow the focus and guide next steps.
How Genetic Counseling Can Help
At MKGenetix, we know that receiving an epilepsy diagnosis can be overwhelming. Our role is to help families and individuals navigate the uncertainty with compassion and clarity.
We help by:
- Reviewing personal and family history to decide if testing is appropriate
- Explaining test options—from single-gene testing to comprehensive epilepsy panels or exome sequencing
- Interpreting complex results in clear, understandable language
- Connecting you to resources such as epilepsy foundations, neurologists, and support groups
Our goal is simple: to help you understand your results and what they mean for you, not just scientifically, but personally.
You’re Not Alone
For many people with epilepsy, understanding the why behind seizures is life-changing. It can replace uncertainty with direction, guilt with understanding, and fear with a sense of control.
If you or your child has epilepsy and you’ve ever wondered whether there might be a genetic explanation, you don’t have to face that question alone. Knowledge is power, and we’re here to help you find it.
How Can MKGenetix Help?
At MKGenetix, we provide virtual genetic counseling for families navigating epilepsy and other neurological conditions. Whether you’re just beginning the diagnostic journey or trying to interpret prior genetic results, we’ll guide you through every step with care, clarity, and empathy.
Reach out today to schedule a consultation or learn more about how genetic testing can help you or your loved one understand epilepsy in a new light.
Warm regards,
Megan Trinkle-Knotts, MS, CGC
Certified Genetic Counselor
Founder, MKGenetix
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