Sequence MD

When epilepsy might be genetic, a routine check-up is just the starting point.

At SequenceMD, we partner with your care team to look beyond the surface and build a comprehensive picture of your health. Pinpointing a genetic cause requires a deeper, more specialized approach. Here’s what a complete evaluation looks like:

• 𝐃𝐞𝐭𝐚𝐢𝐥𝐞𝐝 𝐒𝐞𝐢𝐳𝐮𝐫𝐞 𝐇𝐢𝐬𝐭𝐨𝐫𝐲: Mapping out exactly what happens before, during and after a seizure, often utilizing video EEG recordings to capture real-time brain activity.
• 𝐓𝐡𝐫𝐞𝐞-𝐆𝐞𝐧𝐞𝐫𝐚𝐭𝐢𝐨𝐧 𝐅𝐚𝐦𝐢𝐥𝐲 𝐇𝐢𝐬𝐭𝐨𝐫𝐲: Looking for patterns of epilepsy or related conditions (though it’s important to note that spontaneous, non-inherited genetic mutations can also be the cause).
•𝐀𝐝𝐯𝐚𝐧𝐜𝐞𝐝 𝐁𝐫𝐚𝐢𝐧 𝐈𝐦𝐚𝐠𝐢𝐧𝐠: Reviewing or requesting specialized EEG and MRI protocols tailored specifically to look for subtle structural differences.
• 𝐓𝐚𝐫𝐠𝐞𝐭𝐞𝐝 𝐌𝐞𝐭𝐚𝐛𝐨𝐥𝐢𝐜 𝐚𝐧𝐝 𝐒𝐩𝐞𝐜𝐢𝐚𝐥𝐢𝐳𝐞𝐝 𝐓𝐞𝐬𝐭𝐢𝐧𝐠: In select cases, using blood, urine or specialized spinal fluid testing to check how the brain processes energy and rule out rare conditions like GLUT1 deficiency.
• 𝐂𝐨𝐦𝐩𝐫𝐞𝐡𝐞𝐧𝐬𝐢𝐯𝐞 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐓𝐞𝐬𝐭𝐢𝐧𝐠: Utilizing advanced epilepsy gene panels, whole genome sequencing or trio testing (the testing of parents alongside the patient) to pinpoint the exact root cause.

Learn more: https://sequencemd.com/adult-genetic-epilepsy-the-value-of-a-diagnosis/

Epilepsy isn’t just a single condition. For many adults, it traces back to a single gene. And because every genetic variant behaves differently, finding the right treatment can often feel like endless trial and error. Some genetic epilepsies respond great to specific medications, while others require avoiding certain drugs entirely to prevent worsening symptoms.

Identifying the exact gene responsible changes the entire treatment path. It can unlock personalized treatments, targeted therapies (like the GLUT1 deficiency diet) and give access to life-changing clinical trials. Beyond medication, it gives families a clearer picture of what the future may hold through genetic counseling.

Learn more epilepsy and genetics: https://sequencemd.com/adult-genetic-epilepsy-the-value-of-a-diagnosis/

Navigating a suspected genetic condition can be overwhelming, especially when long wait times delay critical answers. SequenceMD is here to close that gap. With immediate openings and significantly shorter waiting times than traditional providers, we deliver expert evaluations for infants, toddlers and children with complex needs.

We collaborate closely with pediatricians and care teams to provide actionable recommendations and coordinate long-term multidisciplinary care. From recommending advanced diagnostic testing (like exome or genome sequencing) to providing results counseling, family testing and advocacy resource connections, our team serves as a centralized medical genetics resource every step of the way — even assisting with the transition to adult care.

Learn more: https://sequencemd.com/pediatric-genetics/

At SequenceMD, pediatric genetic evaluations start with the patient, not just the referral. Instead of testing for a single suspected condition, we look at the complete picture, incorporating full clinical history, cross-system findings and family risk assessments. Our holistic approach weighs genetic, environmental and familial factors to establish a comprehensive genomic health profile for your child.

Learn more: https://sequencemd.com/pediatric-genetics/