Their findings were published in March 2025 in the top-tier scientific journal Nature Portfolio Journal Digital Medicine. The article explains how the research team designed and trained a machine-learning tool to specifically locate the seizure starting point in children and teenagers.

During their two-year study, the researchers came up with an automated system that works by analyzing recordings of electrical activity in the brain. The researchers entered the data into the framework, and the system learned to identify where the drug-resistant seizures started.

“The system provides as an output to the epileptologists and neurosurgeons the brain area to resect in order for the patient to become seizure free,” said Christos Papadelis, Ph.D., Assistant Vice President of Neuroscience Research at the Jane and John Justin Institute for Mind Health at Cook Children’s Health Care System.

Dr. Papadelis teamed up with his postdoctoral research fellow Hmayag Partamian, Ph.D., to come up with the project’s concept and experimental design. Dr. Partamian developed the mathematical formulas and codes. The work took place in labs at Cook Children’s Medical Center in Fort Worth and at the University of Texas at Arlington, where Dr. Papadelis serves as Professor of Research in Bioengineering and Director of the Pediatric Brain Health and Neurosciences Center.  

The study utilized data from 43 children with drug-resistant epilepsy who underwent resective surgery. The goal of resective surgery is to stop seizures from occurring by removing the brain tissue where the seizures originate.  

Dr. Papadelis said the new AI-based tool could help improve the outcome of those surgeries by precisely defining which tissue to remove, giving those patients hope for a seizure-free future.

Where Seizures Begin

Nearly 500,000 children nationwide live with the chronic disorder of epilepsy. They suffer from seizures, which are misfiring of electrical activity in the brain. Someone experiencing a seizure might have a blank stare, muscle spasms, or loss of consciousness. Medications control seizures in about 70% of epilepsy patients. The others have what’s called drug-resistant epilepsy. 

The AI tool created by Dr. Papadelis and his team requires just five minutes of recorded brain electrical activity to determine the area of seizure origin. This presents a significant advantage compared to conventional methods that typically require recording the brain activity for several days -- or even weeks -- in order to capture a seizure.

The tool then transforms the electrophysiological data into color-coded maps of brain activity across time and corresponding these maps into active epileptic regions in the brain. Researchers trained the AI tool to automatically discriminate epileptic from healthy brain regions in these maps. Surgical resection of the epileptic regions in these brain maps can predict a good prognosis for the patient.

Dr. Papadelis pointed out important features of the automated process:

• Less chance for human error from manual interpretation of the data
• Reduced costs, time and risks from the presurgical evaluation process

“We have developed an AI, patient-specific method that automatically identifies the brain area that generates seizures in patients with drug-resistant epilepsy. This method requires little to no input from clinicians,” Dr. Papadelis said. “Our method eliminates the need for manual data inspection, reduces prolonged monitoring and enhances surgical planning.”

The study is in collaboration with Boston Children’s Hospital and is funded by a grant from the National Institute of Neurological Disorders and Stroke.

Dr. Papadelis plans to seek extra funding for the study’s next phase: applying the tool prospectively to patients who are candidates for surgical intervention at Cook Children’s.

Dr. Papadelis believes that the findings of this study represent a significant step toward improved surgical procedures for drug-resistant epilepsy.

“Such a framework would be particularly useful to epilepsy centers that lack the multidisciplinary expertise to delineate accurately and precisely the epileptogenic brain regions in complex cases,” the article states.  

Dr. Papadelis credited the dedication of all the researchers, and in particular he highlighted Dr. Partamian’s talent for scripting. The study shows direct benefits that align with the Cook Children’s Promise to improve the well-being of every child in our care and communities, he said.

“This is one of the moments that makes you feel really proud of the work that you have accomplished together with your team,” he said. “We keep our Promise to do our best for improving the lives of children suffering from devastating neurological disorders.” 

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Nearly 500,000 children nationwide have epilepsy. For 70% of them, medication successfully controls their seizures. But for 30% of children with epilepsy, medications fail to control seizure activity, making them candidates for surgical intervention.

“For kids whose seizures can’t be controlled with anti-seizure medication, this is a huge burden for the family and the children,” Dr. Papadelis said. “Sometimes these kids have several seizures per day. Often, the best available treatment for them is brain surgery where the neurosurgeon dissects the area of the brain where the seizures originate. If we successfully disable this area, either with laser ablation or with resective or disconnective surgery, we are able to control the seizures and the child can become seizure-free.”

Critical Precision

For successful brain surgery with minimal complications, precise brain and seizure mapping is crucial to interrupting seizures while also preserving crucial physiological functions of the brain, such as language and movement. In many cases, current techniques in brain mapping for seizure localization can precisely pinpoint where seizure activity originates in the brain, known as the epileptogenic zone. These techniques include electroencephalography (EEG), computed tomography (CT) and magnetic resonance imaging (MRI), as well as other modalities.

But not all seizures have a single point of origin. Some seizures originate from a synchronized network of abnormal electrical activity in the brain. In these cases, one test may point to one location for seizure origin, while another localizes a different area of the brain as the culprit.

“There are several new studies, including ones published by my research teams, that show in these cases it's not a single area of the brain which is involved in the generation of the seizures but, rather, is the whole brain network that is somehow synchronized during seizures,” Dr. Papadelis explained.

Neurosurgeons can use intracranial-EEG (iEEG) to help identify epileptogenic networks within a patient, but this test also has limitations, one of them being its invasiveness.

“Many children with epilepsy require an invasive surgery in which we implant electrodes directly into the brain to help us better understand where their seizure activity is starting, prior to us offering a more definitive surgery intending to stop the seizures,” said Daniel Hansen, M.D., a Cook Children’s pediatric neurosurgeon and medical director of Neuro-Trauma. “Dr. Papadelis’ research may potentially lead to not needing this step for some children.”

In addition to being invasive, an iEEG only records activity within the area of the brain where the electrodes are placed rather than throughout the entire structure. These testing variations and limitations make it difficult for surgeons to pinpoint the entire zone within the brain where surgery should be performed in order to interrupt the whole of an epileptogenic network.

Seizure-free Future

Dr. Papadelis aims to give neurosurgeons and epileptologists a new method to localize seizure onset more completely.

“A more detailed understanding of seizure networks will allow us to better counsel patients on their true chance of being seizure free after surgery, while also allowing us to be more precise and targeted with our surgeries,” Dr. Hansen said.

Dr. Papadelis’ study will explore the effectiveness and accuracy of combining the outputs of two types of non-invasive imaging and brain mapping techniques as they’re performed simultaneously — magnetoencephalography (MEG) and high-density EEG (HD-EEG). The MEG test measures the magnetic fields produced by the brain’s electrical activity, while the HD-EEG records brain activity using more than 500 closely spaced electrodes placed all over a patient’s head. Such a setup is unique in the country.

In addition to improved seizure mapping and surgical precision, this new technique may also open the door for children whose cases were previously considered inoperable. 

“This type of work potentially helps not only the many difficult cases we currently encounter, but could uncover other cases that would be good surgical candidates, whereas previously they would not have been considered,” said M. Scott Perry, M.D., epileptologist and head of the Jane and John Justin Institute for Mind Health at Cook Children’s. “Take cases of apparent generalized epilepsy, which is essentially epilepsy coming from the whole brain, as an example. In some instances, this is just a more diffuse network that may still be eligible for treatment if we locate the primary hubs.”

The study will begin in March 2024 and continue for five years. Dr. Papadelis and his colleagues believe this new seizure mapping technique will give physicians a better read on the scope of their patient’s epilepsy, giving more children the chance for a seizure-free future.

Today, Cook Children’s Medical Center - Prosper launched a new testing and diagnostic service that allows children experiencing seizures to receive care closer to their homes and communities. The test, called continuous electroencephalogram (EEG) monitoring, reads electrical activity in the brain and is an essential tool for detecting and diagnosing a seizure disorder. 

Prosper resident and father of two, Kevin Greene knows all too well the challenges of having to leave your community to seek medical care and how that impacts a family. In February, the vice president and administrator at Cook Children’s – Prosper, Greene and his wife Christy, took their 9-month-old son Matthew to the emergency department at Cook Children’s Medical Center in Fort Worth after he experienced what appeared to be a seizure episode at their home.

The Greenes began to notice symptoms in Matthew a couple of weeks prior to the event and consulted with Damian Campbell, D.O., a Prosper-based pediatric neurologist and member of Cook Children’s Physician Network.

“We took Matthew to see Dr. Campbell, who is amazing, and we were watching his condition closely, but following this episode he encouraged us to go to our medical center in Fort Worth for further evaluation,” Greene said. “Our medical center in Prosper was open, but I knew we did not offer continuous EEG monitoring at the time and would not be able to provide the appropriate services to be able to monitor and capture what was happening. Upon arriving in Fort Worth, Matthew was examined in the emergency department where he was ultimately admitted to our epilepsy monitoring unit.”

The new EEG monitoring service at Cook Children’s – Prosper is made possible through collaboration with the Neurosciences team in Fort Worth, an effort that began months before Greene and his family had their own emergency.

Patients experiencing a potential seizure are admitted to the inpatient unit at Cook Children’s – Prosper where an EEG technician sets up mobile monitoring equipment and attaches monitoring electrodes to the patient’s scalp. The test livestreams to clinicians in the Epilepsy Monitoring Unit at Cook Children’s Medical Center in Fort Worth for observation and reading. The monitoring process typically takes at least 24 hours and requires an overnight stay in the hospital.

“This is a relationship that we've been working on for multiple months with the Jane and John Justin Institute for Mind Health team in Fort Worth led by M. Scott Perry, M.D., head of Neurosciences and Cynthia Keator, M.D., Medical Director of Neurology,” Greene said. “It is another great example of how the children and families we care for at Cook Children’s – Prosper will have the full weight and expertise of the entire health care system behind them.”

Several obstacles were overcome to make this remote monitoring service a reality, including building the technological infrastructure to support high-speed and secure data-sharing channels between the two medical centers for real-time monitoring of the patient’s EEG patterns and events.

“We’ve been fortunate to have the support of our main campus while we grow and bring various systems online,” said neurologist Damian Campbell, D.O. of Cook Children’s – Prosper. “Their support has offered us an opportunity to really plan out our own approach here in Prosper. We’re excited to now be able to provide continuous EEG monitoring to our community; another step forward toward our promise of delivering the highest quality care to every child in our care and communities.”

Communication and collaboration protocols between the monitoring team in Fort Worth and clinical team members in Prosper were established to coordinate care activities, share essential information and maintain seamless operations during the monitoring process. 

“The project's success can be attributed to the dedication, expertise, and commitment of professionals from Cook Children's in Prosper and Fort Worth working together to achieve a common goal of providing the best possible care for patients,” said Rickey Ross, manager of the Neurodiagnostics Lab at Cook Children’s – Fort Worth. “Not only does this enhance access to specialized care and more timely interventions for kids in Prosper and the surrounding communities, but it offers convenience and comfort for patients and families, promotes knowledge sharing and optimizes resource utilization, all of which ultimately improve patient outcomes and well-being.”

Monitoring technicians in Fort Worth and nurses in Prosper underwent comprehensive training and education to prepare to support the service. 

“Our nurses and clinical care team members at Cook Children’s – Prosper are excited to be able to care for patient’s needing this critical service,” said Sheralyn Hartline, RN, assistant vice president of nursing and patient care at Cook Children’s – Prosper. “Through the collaboration with our medical team in Fort Worth, we are forever changing the way families are able to access world-class pediatric neurological services close to home.”

“Our family is truly grateful for the amazing care and kindness that was provided to our son during our time in Fort Worth,” Greene said. “It brings me great joy knowing we are now able to extend the same high-quality care and experience to our families seeking care at Cook Children’s Medical Center – Prosper.”

It’s hard to imagine how a stroke could be a blessing in disguise, but Joseph and Allison Turner believe it was for their son, Owen, when he was just 8 months old.

“The stroke caused all kinds of battles that we’re still battling today, eight years later, but it saved his life,” Turner said.

When Joseph noticed Owen wasn’t moving the right side of his body while playing with his baby on a Sunday morning in January 2014, he and Allison knew something was terribly wrong. In addition to the loss of movement, their otherwise happy and content baby was fussy and irritable. He was suddenly behaving differently than he had been just a few days earlier when Allison took Owen to his pediatrician to check out a few bumps that appeared on the top of his head. Initially thought to be cysts, the doctor scheduled Owen for a return visit the following Monday to have them rechecked. But the changes they saw in Owen that Sunday morning led them to rush to the nearest emergency room in Cleburne, Texas, just one day before their scheduled follow-up appointment with Owen’s pediatrician.

Things moved quickly at the ER. It was apparent to doctors there that Owen’s condition warranted a more specialized level of pediatric care than could be given at their hometown hospital, so doctors called a helicopter ambulance to transport Owen to Cook Children’s Medical Center. Joseph wanted to be at Cook Children’s as soon as the helicopter landed with his son, so he jumped in his truck to make the 30-minute drive to Fort Worth. Allison stayed behind with Owen to travel in the helicopter with him.

As they were waiting for the air transport doctors were simultaneously running a number of tests to try and determine the cause of his stroke and interrupt further damage as quickly as possible. A diagnosis came quickly, and it was beyond belief for Allison—acute myeloid leukemia (AML), a fast-growing blood cancer that worsens quickly if not treated.

“Absolutely not,” Allison said describing her initial reaction. “There must be something else. It can’t be. This is my perfectly healthy baby.”

But Owen was critically ill. Abnormal leukemia cells were quickly building up in his blood and crowding out normal cells, which Allison says thickened his blood and led to the stroke. The bumps that appeared days before turned out to be clusters of leukemia cells sitting on top of his head. Had the stroke not prompted the Turners to take Owen to the ER, doctors told the family he may not have lived to make it to his scheduled doctor’s appointment the next day.

Allison rode with Owen in the helicopter to Cook Children’s in shock. Their lives had just changed forever, but there was no time to dwell on their disbelief. At Cook Children’s, Owen was immediately admitted to the pediatric intensive care unit (PICU) and met by Kenneth Heym, M.D., a pediatric oncologist and medical director of Cook Children’s oncology program. Dr. Heym wasted no time treating Owen’s cancer. That very Sunday night, the Turner’s baby boy began his first round of chemotherapy.

For the next four months, Cook Children’s was the family’s home while Owen underwent chemotherapy treatment. They left twice, but only to stay a few days just down the road from the hospital at Ronald McDonald House Fort Worth. After completing the intense AML treatment protocol, Owen was discharged from Cook Children’s in May 2014 and returned home for the first time in months.

In a matter of days, Allison and Joseph went from knowing little to nothing about AML to becoming experts on the topic. They credit their relationships with other cancer families at Cook Children’s for learning the ropes. Allison recalls that Cook Children’s chaplains would often stop by for a visit with Owen, and she would sometimes take that opportunity to step out and visit with other moms on the unit.

“Talk to the other cancer families if you're on the cancer floor,” Allison said about the advice she gives to families facing a new cancer diagnosis. “Those people were our family. We still send Christmas cards every year to the families that were inpatient while we were inpatient. They were such a support system. They share in something that nobody else on the outside would ever understand. Meet, find and talk to other cancer moms and cancer families that are going through the same thing.”

Today, 9-year-old Owen is cancer free and loving life, despite having a few lingering issues as a result of the stroke, like weakness on the right side of his body for which he continues weekly therapy. The stroke also led to daily seizures. In 2018, Owen became the first patient at Cook Children’s to undergo a trailblazing endoscopic surgery that disconnects part of his brain to stop seizures.

Even with these challenges, Allison says her son is a happy, easy-going kid looking forward to a future full of possibilities. If Owen has anything to do with it, that future will include lots of golfing and fishing, scoring a few goals for his soccer team, and cheering on Dude Perfect as they attempt their epic stunts.

About AML

Acute myeloid leukemia (AML) is a fast-growing blood cancer that originates in the bone marrow where blood cells are made. It starts with the abnormal growth of cells that form white blood cells, red blood cells or platelets. The abnormal cells end up crowding out normal blood cells, which can lead to infection, anemia and a tendency to bleed easily.

Of the more than 10,000 children diagnosed with cancer each year, nearly one in three cases are a form of leukemia. There are two main types of acute leukemia, with AML being the least common one in children.

Symptoms may be hard to spot. In Owen Turner's case, his symptoms began with bumps on the top of his head and escalated quickly resulting in a stroke. 

Other symptoms may include:

●     Easily tires, is weak or dizzy

●     Pale or ashen skin

●     Shortness of breath, trouble breathing or an unexplained cough

●     A fever or infection that doesn't get better

●     Bleeds or bruises easily, the gums may bleed often when brushing the teeth, recurrent nosebleeds

●     Continual bone or joint pain

●     A swollen belly

●     Swollen lymph nodes on the sides of the neck, underarms or groin area

●     Headaches, seizures, vomiting

●    Non-itchy rashes caused by bleeding under the skin

Acute myeloid leukemia is aggressive. It can move into other parts of the body and, if left untreated, can lead to death within six months or less.

If your child experiences any of the above symptoms, it is wise to talk with your pediatrician about them.

Her head and arms lift. Her eyes open, turned to the side. Her body goes rigid and she loses bladder control. Sometimes she moans; usually the episodes unfold silently. The next morning, Baylie doesn’t remember.

“It’s very tough to watch. It never gets easy,” said her mom, Brandi Williams. “Most of the time she just goes right back to sleep.”

Diagnosed at age 2, Baylie is among the estimated 12% of epilepsy patients who experience nighttime seizures. An electroencephalogram (EEG) monitoring study at the epilepsy monitoring unit at Cook Children’s found that her seizures occur six or seven times a night – even more than her parents initially realized.

Dave Shahani, M.D. an epileptologist at Cook Children’s, explained that nocturnal seizures cause special concern because of the risk that a child in the throes of a seizure might suffocate on fluffy bedding or soft toys.

“It’s not that they are any different from other seizures per se, but we tend to worry about them more,” he said. Seizures while sleeping are less likely to be witnessed by a parent, he pointed out. “Any number of nighttime seizures is a high number. Even one a month is a high number.”

The U.S. Centers for Disease Control and Prevention estimates that epilepsy affects 470,000 children nationwide. Irregular electrical activity in the brain characterizes this chronic disorder, which encompasses a wide variety of seizure types. Symptoms of epilepsy can look very different in different people.

Someone having a seizure might collapse, twitch or spasm, stiffen, blink rapidly, stare into space, or lose consciousness, for instance. Nighttime seizures pose the added challenge of sleep disruption. And studies have indicated a higher risk for Sudden Unexplained Death in Epilepsy (SUDEP) during sleep. SUDEP is poorly understood but suspected to involve cardiac or respiratory complications.

Damian Campbell, D.O., a pediatric neurologist at Cook Children’s in Prosper, said Baylie’s frequent and consistent sleeping seizures stand out as “the most extreme case that I’ve experienced.” But he’s encouraged about the prospect of surgically correcting her epilepsy.

Doctors think Baylie’s seizures originate from the right frontal lobe of her brain due to focal cortical dysplasia, a jumbling of the neuron cells as her brain developed before birth. In a surgical procedure scheduled for December, her medical team expects to pinpoint the abnormality’s exact location – and eventually reduce or even eliminate her seizures.

In November, as we observe Epilepsy Awareness Month, we’re highlighting Baylie’s story to illustrate the complexity of epilepsy, to share hope, and to feature the work of the neuroscience experts at Cook Children’s who treat the seizure disorders of more than 13,000 infants and children per year.

Starting to Find Answers

Baylie loves to sing and dance, can charm someone she’s just met, and in her dad’s words “she’s amazing.” So the discovery of their daughter’s epilepsy several years ago came as a surprise to Jabyrie and Brandi Williams. None of Baylie’s five older siblings has seizures. And judging just by appearance, nothing seemed obviously wrong with the toddler. But the family noticed occasional behavior they thought was unusual.

“Every once in awhile she would start staring off into space and then she would start laughing after she came out of it. We would snap our fingers and say ‘Baylie, Baylie,’ and she wouldn’t say anything,” Brandi remembered.

“We didn’t think it was anything at first,” Jabyrie said. “She would look around and laugh, and we thought it was an imaginary friend.” The Williamses referred to these strange bouts as “blanks.”

Then they picked up on other odd signs… dizziness after her blank spells, dark circles under her eyes, and complaints about feeling tired. She struggled to follow directions at home. At gymnastics, she couldn’t focus enough to complete a step-by-step routine. “Walk the beam and then do a handstand and do a cartwheel,” Brandi said. “Her mind couldn’t process doing those things in a certain order.”

After a referral from a pediatrician, Baylie underwent various tests, including an MRI, spinal tap and electroencephalogram (EEG). In 2020, they sought a second opinion at Cook Children’s, where she came under the care of both Dr. Campbell and Dr. Shahani. Further tests showed that Baylie’s “blanks” and trouble concentrating stemmed from the disorganized layering of neuron cells on one side of her brain.

She currently takes two medications that mostly control her daytime seizures. At full-day pre-kindergarten she hasn’t had a seizure during nap time. But a stressful day, Brandi said, might trigger a breakthrough seizure during waking hours. And the nighttime seizures still happen regularly.

“Focal cortical dysplasia can’t be fixed with medication. You can suppress the seizures, but you can’t fix anything. Surgery is the only thing that could fix it,” Brandi said.

Dr. Campbell characterized Baylie as a good candidate for epilepsy surgery. He cited the higher likelihood for surgical success in patients whose seizures onset lies in just one part of the brain instead of generalized in multiple locations. A lesion in Baylie’s right frontal lobe “as a result of being malformed, doesn’t respect the organization of how the brain produces electricity,” Dr. Campbell said.

Dr. Shahani concurred in the assessment of good surgical potential. The four medications Baylie tried didn’t stop her nighttime seizures. “Without any change in her treatment plan, she will continue to have seizures for the rest of her life,” he said.

Next Step, Surgery

A stereo EEG is scheduled for Dec. 13 to precisely locate the source of her brain’s erratic electrical waves. Daniel Hansen, M.D. a neurosurgeon at Cook Children’s Jane and John Justin Neurosciences Center, will make small incisions in Baylie’s scalp and skull to place electrodes that record brain activity. Those findings could pave the way next spring for either a resection (removal of a small amount of brain tissue), or thermal ablation (a probe that uses heat to destroy the area causing the seizures). Cook Children’s performs more than 30-40 epilepsy surgeries annually.

The odds are stacked in Baylie’s favor. Dr. Shahani explained that the target area doesn’t involve critical parts of her brain that control language or motor skills. ‘She presents as a very good candidate for potential seizure freedom,” he said.

For epilepsy patients whose seizures resist medication, alternatives may include dietary therapy or implanted devices such as vagus nerve stimulators. “Early recognition and early treatment always lead to better outcomes,” Dr. Shahani said. And from Dr. Campbell: “Earlier detection is better because uncontrolled seizures can affect patients cognitively over time.”

They encouraged parents to call a neurologist or epileptologist if they suspect their child might be having seizures. Videos can be a valuable diagnostic tool by capturing a recording of the twitches, spasms, “blanks” or other concerns. Seizures often go undiagnosed or misdiagnosed because they occur so uniquely in each person, Dr. Shahani said.

“It makes it challenging and extremely rewarding to help identify what is a seizure. Parents are our greatest asset because they know their child the best.”

Back in Rowlett, the Williams family keeps Baylie on an evening routine – dinner, medicine, bath, in bed by 8:30pm. She sleeps in her own bedroom, protected from falls by a guard around the edge of her mattress. A camera keeps watch.

“In the beginning she was sleeping with us because we were nervous,’ her mom said. “But we had to come to the agreement that we have to let her be a kid.”

Brandi and Jabyrie expressed optimism that this treatment path will put an end to Baylie’s nighttime seizures and allow her to come off the meds. They urged other parents to know that the signs of epilepsy can be silent and easy to miss. Their advice? Ask questions, pay attention to seizure triggers, and advocate for your child.

“We want answers, and that’s what Cook Children’s gave us,” Brandi said. “If we never would have switched to Cook Children’s we just would have been chasing seizures for the rest of her life. We want her to be as independent and normal as possible. Being on medication for the rest of her life just wasn’t what we wanted for her, if we could help it.”

Left uncontrolled over time, seizures can cause buildup of brain scarring, Dr. Campbell said. Nighttime occurrence interferes with the restorative sleep that children need. He applauded the Williamses for their willingness to follow the recommendation for surgery to stop Baylie’s seizures.

“I hope that this article helps other families with the expected fear with hearing someone say ‘Maybe we should consider surgery,’” Dr. Campbell said. “It is a scary conversation. But I think over time we’ve become optimistic that her story will make it less anxiety-producing for families.”

But for some patients with severe seizures who have not responded to medications or who have had significant side effects with medications, epilepsy surgery might be the best option. The goal of epilepsy surgery is to identify and resect the area of the brain that is responsible for the generation of seizures. However, identifying this brain area can be challenging.

Thanks to new techniques developed by Christos Papadelis, Ph.D., director of Research at the Jane and John Justin Neurosciences Center at Cook Children’s, the ability to better locate the source of epilepsy has improved. Working with researchers at Boston Children’s Hospital, Massachusetts General Hospital, and Harvard Medical School, Dr. Papadelis developed a novel biomarker, or medical sign, that can identify the area in the brain causing seizures with non-invasive strategies and high precision. Using premiere imaging technology such as magnetoencephalography (or MEG) and high-density electroencephalography (or EEG), the team measured the magnetic and electric activity generated by the human brain to locate the biomarker and source of seizures. This work was recently published in the Annals of Neurology, a widely-respected journal produced by the American Neurology Association.

Improvement in precision of locating the source of seizures decreases the risk that a child will suffer from disability due to surgery. It also increases the odds that children will recover function and improve their quality of life without negative consequences. While still not easy, this research will allow parents to feel even more confident about their decision to move forward with such a complex procedure as epilepsy surgery.

To help raise awareness of this rare genetic cause of neurodevelopmental disease, M. Scott Perry, M.D., medical director of neurology and director of the Genetic Epilepsy Clinic at Cook Children’s, shares basic information about the disorder and exciting advancements towards treatment for this rare disease.

What do SCN2A-related disorders look like? 

Children with genetic variants in SCN2A can develop early onset epilepsy with various levels of severity. SCN2A was first discovered as a cause of benign familial neonatal infantile seizures (BFNIS), a syndrome that often occurs in multiple family members. These children can develop seizures as newborns or infants, but can develop normally with good seizure control.

Later, SCN2A was discovered as a cause of infantile spasms and other early onset severe epilepsies of childhood, the so-called early infantile epileptic encephalopathies. The gene has also been linked to Ohtahara Syndrome, Dravet Syndrome, Migrating Partial Epilepsy of Infancy and West Syndrome amongst others. In addition, SCN2A variants are a major cause of intellectual disability, schizophrenia, and autism which may occur without associated epilepsy. A variety of other medical conditions may be present in people with SCN2A-related disorders, including sleep problems, cerebral palsy, and movement disorders to name a few.

What is the cause of SCN2A-related disorders? 

SCN2A is a gene which makes a sodium channel found primarily in the nerve cells that generate electricity. Two issues can occur with SCN2A. The first is a change in the gene which causes a gain of function – a change that allows too much sodium to enter the nerve cell and thus increases electricity – often presenting with epilepsy as a main symptom.

For others, SCN2A variants cause a loss of function – a change that decreases sodium entering the nerve cell and thus decreases electricity – more often presenting with autism and intellectual disabilities. Many mutations in SCN2A are de novo, meaning they occur spontaneously and were not inherited from the parents. This is often the case in more severe disease presentations. There are instances where SCN2A may be inherited from a parent and this is more commonly seen in benign presentations such as BFNIS.

How are SCN2A mutations diagnosed? 

Often, genetic testing can diagnose SCN2A mutations. The Behind The Seizure program provides free testing for children in the U.S. under the age of 8 years.

Magnetic resonance imaging (MRI) scans are often normal and electroencephalogram (EEG) findings may vary.

Is there a treatment for SCN2A-related disorders? 

While there is not yet a cure for SCN2A-related disorders, a significant amount of research is leading to exciting new therapies. Certain traditional sodium channel seizure drugs (for example, phenytoin, lamotrigine) have demonstrated more favorable responses for seizure control in select patients (often gain of function), while in others, sodium channel drugs may aggravate seizures.

New drugs are being developed that specifically target the abnormal channel produced by SCN2A. These treatments may provide more precise control of the channel without disrupting the function of other sodium channels like many traditional sodium channel seizure drugs. This may result in better seizure control with less side effects.

Potentially most exciting is the development of genetic approaches to therapy, treatments that don’t just treat symptoms, but aim to correct the genetic abnormality. Antisense oligonucleotides (ASO) are small pieces of genetic material that can be given to help increase or decrease production of SCN2A. This approach has been used in other genetic conditions (spinal muscular atrophy and Dravet syndrome) with success and represents a promising therapy for SCN2A disorders as well. This is just one of several genetic approaches to therapy on the horizon.

Where can you find more information about SCN2A disorders?

For more information about SCN2A and SCN2A Awareness Day, visit www.scn2a.org. The SCN2A Foundation serves as an excellent resource for information about SCN2A related disorders and helps connect a community of people living with these rare conditions. The site provides updates on SCN2A research as well.

Seizures aren’t as uncommon as one might think. In fact, one in 26 people in the United States will develop epilepsy at some point in their lifetime, according to the Epilepsy Foundation. Apply that statistic to a typical school classroom, church, workplace or family gathering, and it’s likely that at least one individual you know or love may have seizures.

Because a seizure can occur any time, anywhere, without any warning at all, it’s important for those with epilepsy to have an action plan for emergency seizure response, and for those close to them to be familiar with that plan. Seizure Action Plan Awareness Week, which kicks off Monday, Feb. 8, in conjunction with International Epilepsy Day, aims to demystify seizure disorders and arm those who live, work and spend time with someone with epilepsy with the information they need to help during a seizure emergency.

“Having a seizure action plan helps those close to you know how to best protect you from injury during a seizure, gives direction on the most appropriate medical response or rescue therapy and provides important information to first responders about your seizure type and medical condition,” said M. Scott Perry, M.D., epileptologist and medical director of neurology and the Genetic Epilepsy Clinic at Cook Children’s Medical Center. “These situations are often high-stress, so being prepared with a clear and precise plan will help you and those who love you confidently and successfully manage your epilepsy.”

Make A Plan

Some seizures, especially those that are prolonged or occur in clusters, can be life-threatening. Having a plan that dictates accurate intervention reduces response times, and decreases the risk of death and the need for additional rescue medications, according to the Seizure Action Plan Coalition.

A good plan includes tailored guidelines specific to the individual’s seizure type, medical circumstances and needs. It clearly and concisely organizes all of this vital information into a document that can be put into the hands of loved ones, friends, co-workers and caregivers so they are prepared to respond in the event of a seizure.

Components of a seizure action plan should include:

• Information about your seizure type.
• How one should respond to your seizures to help protect you from injury and get you the appropriate medical assistance.
• When to use rescue therapy medications, their names and dosing information.
• The type of help you need following a seizure and special instructions for first responders.
• A list of seizure triggers and other important information about your condition.
• Emergency contacts.

Parents of children with epilepsy should have a plan for their child. Anywhere the child frequents—be it school, church, sports activities or camp—should have a copy and teachers, school nurses, coaches and counselors should be familiar with your child’s plan. Experts say it’s important to include children in the planning process to help them feel more confident and secure that they’ll get the help they need when a seizure occurs.

“Seizure action plans are so useful for our families,” said Aubrey Esparza, neurosciences clinical nurse leader at Cook Children’s Medical Center. “They give them a guide on the best plan of action during those emergency situations when you really need a step-by-step approach to provide the safest care so that the patient has the best possible outcome.”

Enhancing Action Plan Efficiency

Esparza is spearheading an effort at Cook Children’s to improve the process of developing, accessing and updating seizure action plans for patients. Currently, paper plans are scanned into a patient’s electronic medical record making them difficult for clinicians to electronically search, track, edit and update. In some cases, there may be multiple copies—some outdated—in different places within a single chart. Working together with Esparza, a multidisciplinary team of nurses, physicians and IT professionals are developing a digital tool for building a seizure action plan directly within a patient’s electronic medical record.

The digital enhancement would mean patients’ action plans would be located in a dedicated space within the medical record and allow clinicians to easily search and update electronically. The tool will alert health care providers when it’s time for a patient’s annual action plan update, ensuring that patient caregivers have the most up-to-date rescue instructions at their fingertips. The plan can be printed for use at home, school or other places the patient frequents. The electronic seizure action plan tool will launch in 2021.

“The thing parents report most frequently about seizure action plans is that they have increased confidence in being able to manage their child’s seizures at home because they have clear-cut instructions on what to do when that seizure occurs,” Esparza said. “It helps them know when to be concerned, when to give medication and when to call 911.”

Information about Seizure Action Plan Awareness Week and the Seizure Action Plan Coalition, along with tips and tools for creating a personalized plan, can be found at seizureactionplans.org. The Epilepsy Foundation also provides helpful resources about aiding someone having a seizure at First Aid for Seizures Procedure.

Log on to cookchildrens.org to learn more about Cook Children’s Comprehensive Epilepsy Program, recognized by the National Association of Epilepsy Centers as a level 4 epilepsy center providing the highest level of care for patients with complex epilepsy.

“Virginia has intractable localization related epilepsy or drug-resistant epilepsy. If we break that down, that means she has epilepsy that has been uncontrolled by two or more medications,” said M. Scott Perry, M.D., medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s. “’Localization related’ meaning it arises from one area of the brain, as opposed to the entire brain at one time.” 

In early December, Virginia had minimally invasive brain surgery. It’s been nearly three weeks and for the first time in 16 years, she’s seizure free.

“We did laser thermal ablation. This means we used electrodes to pinpoint the problem area and used a laser fiber to burn that area of the brain,” Dr. Perry explained. “She went home the next day. Now we enter the patient waiting game to see how it’s going to go.”

Though epilepsy is common to children, Virginia’s story is unique. She says she was in 4th grade when she realized how much impact seizures had on her life. She began looking down on herself and looking at herself differently. She felt as if she wasn’t the same as her peers in a bad way.“

When I was younger, I definitely hid a lot more, because I was afraid that people would look at me a lot differently. I only really told people if they were coming to sleepover. As I got older, I told more people, mainly my friends and I began accepting it more,” Virginia said. 

As years passed, things became normal to her. She played field hockey with her friends and was able to do most of the same things as her peers. It wasn’t until her sophomore year in high school when the “different” feelings came up again, because her friends were beginning to drive. 

“I really noticed it again when everyone was getting their permits. But when I was a junior, things were back to normal again because driving was routine and not everyone was excited about it anymore,” Virginia said. 

Virginia’s mom, Kate, has been her advocate every step of the way. She said when Virginia first started having seizures, she thought she was just making a funny face. Her dad was holding her the next day, and it happened again. When they took her to the doctor, Virginia had a seizure in front of them and the neurologist. It was then that they started on a path to find out the cause.

 “It’s very hard to watch a child suffer from a disease that is tragically underfunded and tragically understudied, and under researched and misunderstood,” Kate said. 

Over the years, Virginia has failed 12 drugs. Medical professionals say if an epilepsy patient fails two drugs, it’s unlikely that any others will work. She has seen several doctors in her home state of Virginia and across the country. Doctors have tried several things with her case and could never pinpoint where the seizures were coming from. 

Virginia’s mother refused to allow her disease to hinder her from living a full life and doing everything her siblings could do. Kate says Virginia has traveled with her family extensively. She’s gone paragliding in South Africa and swimming with manta rays in Hawaii. She ran cross country and is even on a competitive rock climbing team. All things they knew were a risk, but a risk they were willing to take.

“I would rather have a child with a broken arm than a broken spirit,” Kate said.

While searching Twitter in the fall of 2019, Kate came across Dr. Perry’s professional profile where he regularly posts about advancements in treatment for epilepsy. She decided to seek his opinion. After securing an appointment, mother and daughter flew to Texas. In her initial appointments, Dr. Perry ran tests to see Virginia’s seizures for himself. 

“From the beginning, it felt like a very collaborative relationship and a very transparent relationship, and that just stood out to me from other patient and caregiver experiences that we’ve had in the past,” Kate said. “I felt like everyone was familiar with her case history, everyone knew why we were there, everyone knew what we were hoping for. Again, not overpromising and not being overly optimistic, but really understanding our goals and what we had already tried." 

Virginia agrees that Cook Children’s was different from other appointments she’d been to. She was happy to finally have doctors that focused solely on her case.

“At Cook Children’s, they didn’t compare my case to anyone else, but looked at it as a singular case. I think that was the difference and they also had a more positive outlook. All of the doctors were good at explaining things in a way that I could understand them, but also not making me feel dumb,” Virginia said. 

After observations, running tests, and reviewing hundreds of pages of paperwork from Virginia’s doctors over the years, Dr. Perry was confident that he’d pinpointed where the seizures were coming from. He then recommended her for epilepsy surgery. Virginia was able to have her surgery and fly home two days later.

While visiting Cook Children’s, Kate and Virginia also met Cynthia Keator, M.D., medical director of the Epilepsy Monitoring Unit at Cook Children’s who made an impact on the Cooper family. Kate says the moment she met Dr. Keator, she felt immediately encouraged and appreciated how transparent she was about what she was seeing in Virginia.

Dr. Keator said she knew from the minute she saw the data on Virginia’s EEG that she could help her, and as a doctor that is always the best feeling.

“There is something about teenagers in general and just knowing that they’ve got the rest of their life ahead of them. You’re excited to get to their breakthrough and get them better, so they can start to have an independent life,” Dr. Keator said.

Since returning home, Virginia has gone back to school to complete her senior year and study for the ACT exam. While she was at Cook Children’s waiting for her surgery, she was excited to receive two college acceptance letters. She will soon apply for her top choice, McGill University, in Montreal where she hopes to attend next year. 

Virginia says it still hasn’t hit her that she’s had a surgery that could potentially change her life. She says the best part is the hope of having a normal college experience. 

“If it works, I don’t have to tell my professors about it, and my roommates, or my friends and have that complicate my whole experience too,” Virginia said.

Dr. Perry hopes the surgery was all Virginia needs to live a normal life and that her story is a testament to why epilepsy surgery should be considered more often. 

“People don’t pursue epilepsy surgery, despite it being the one thing we can do for epilepsy where we might be able to cure it and get you off of medication,” he said. “Epilepsy surgery is vastly underutilized.” 

Dr. Perry’s ultimate goal is for her to be seizure free, off of medication, and living happily ever after.

 Kate and Virginia both agree that having a support system while dealing with epilepsy is important. Having people who are there to listen with no judgement and willing to jump in when you need them most has been helpful to them both. 

“It’s really important to find one or two super close friends who you can talk through everything with and never feel insecure when talking to them,” Virginia said. “It really helps.”

As a mother who’s dealt with epilepsy for 16 years, Kate has three pieces of advice that she hopes will help other parents:

1. Build your support group. Seek out people who might be going through something similar and that you can lean on.

2. Take care of yourself. Do things for yourself and practice self-care.

3. Listen to your gut. Don’t be afraid to seek guidance from other physicians who specialize in your child’s disorder.

Virginia has one piece of advice for anyone dealing with epilepsy.

 “Never to doubt yourself. Just because sometimes your life is a little bit harder for you than for others doesn’t mean you can’t do the exact same things as they can or get as far as, or further in life.”

“The impact of this treatment device can be pretty dramatic for the lives of the people who are candidates for it,” said Daniel Hansen, M.D., a neurosurgeon at Cook Children’s Jane and John Justin Neurosciences Center. “These are children who, five years ago, we would have told them there’s really nothing else we have to offer and you’re going to have to continue with medications for the rest of your life and manage it as best you can.”

The RNS System is a small, titanium neurostimulator about one-third the size of a credit card. During implantation, surgeons remove a portion of the skull in the same shape and size as the device and place the stimulator flush with the skull. It sits virtually undetected under the skin. Tiny wires, or leads, connected to the device are placed into the area of the patient’s brain shown to be the origin of their seizures. The RNS System monitors electrical activity in the brain and, when it detects unusual seizure-inducing electrical patterns, delivers an impulse, or stimulation, to disrupt the oncoming seizure. The technology is similar to that of a pacemaker that monitors and stimulates abnormal heart rhythms.

While approved by the FDA for use in adults, RNS can be used in select pediatric cases where all other treatments have been exhausted and where surgical removal of the area of the brain where seizures originate would cause significant permanent defects. Unlike anti-seizure medication, which can cause dizziness, drowsiness, depression or confusion, the RNS System does not cause chronic side effects. Patients do not feel the impulses it delivers.

“There are lots of kids who have responses to medicine or who are candidates for more aggressive surgeries, but there’s a good percentage of kids who we tell there’s really nothing left we can do,” Dr. Hansen said. “Now we have the ability to offer families another option and data shows, over time, you actually have a good chance of getting impressive seizure control.

A Glimmer of Hope

Wyatt Keele and his family had little hope left for relief from his lifetime of debilitating seizures. They tried everything from a ketogenic diet to multiple medications to thermal ablations of brain tissue to removing the portion of the brain where Wyatt’s seizures first originated. None of the interventions gave him significant, long-term seizure reduction or control.

“We were out of options,” Jennifer Keele, Wyatt’s mother, said. “There's no more medications for us. There's no more surgeries as far as taking out more of his brain. We were just kind of stuck.”

In February, doctors at Cook Children’s Medical Center told the Keele’s about the RNS device and its potential as a new treatment option for Wyatt. During the following months, physicians spent time mapping out the electrical activity in Wyatt’s brain using previous brain scans and electroencephalograms (EEGs) in order to pinpoint seizure location and determine potential placement of the device’s leads. By July, the Keele’s were convinced this was the right next step for Wyatt.

“My husband and I had already said that we weren't going to put Wyatt through anymore surgeries,” Keele said. “But after talking to his physicians we started researching and saw that this is a big deal and it has helped so many adults. The success rate is so high that we just couldn’t say no.”

It was the hope they longed for. The potential for Wyatt to be independent, attend school without worry, take part in activities with other kids and do all of the things his older siblings get to do without suffering from daily or weekly seizures.

“We do hope that the RNS is able to, over time, significantly control Wyatt’s epilepsy,” said Cynthia Keator, M.D, Wyatt’s epileptologist and medical director of the epilepsy monitoring unit at Cook Children’s Jane and John Justin Neurosciences Center. “We’re not sure if he’ll be able to fully come off of seizure medications, but we do hope that it'll decrease his medication burden while also decreasing the seizure burden and restoring some of his quality of life.”

The RNS device will continuously monitor and collect data related to Wyatt’s brain and seizure activity and, as it learns more and more, will adjust and improve its seizure-preventing interventions. In other words, the more data points the device collects about the electrical patterns in Wyatt’s brain, the smarter it will get in knowing when to send an impulse to interrupt a seizure, potentially improving Wyatt’s outcomes year after year.

Clinical studies of the effectiveness of the RNS System demonstrated a continuous improvement in seizure reduction over time. According to NeuroPace, at 9 years post implantation, patients experienced a median of 75 percent reduction in seizures and 28 percent experienced seizure-free periods equal to or greater than six months. Quality of life also improved, with patients reporting a rebound in cognitive function and physical and mental health.

The device will be teaching Wyatt’s doctors along the way, too. Data collected by the RNS System can be downloaded wirelessly, providing physicians with important feedback on the intensity, duration and location of seizures. This type of long-term monitoring can help physicians better pinpoint seizure activity origin and guide them in treatment decisions and options as the child grows.

“I think what will be most interesting is what data these devices provide us,” Dr. Keator said. It's another advancement in how we understand epilepsy networks and allows us to continue to find the best ways to ideally help these patients and hopefully find a cure for them.”

Dr. Hansen believes the lessons learned from RNS data collection has the potential to help more than just the device recipients.

“This really does give us the opportunity to capture that long-term data that we never had before, which I think will also be hugely impactful in the overall research of epilepsy,” Dr. Hansen said. “So all of these children and adults who have the device implanted are really creating a unique research population that we never had before. And they all understand that they're getting to contribute something to our understanding of epilepsy and how that electrical activity propagates throughout the brain and that what we find out may help someone else, too.”

#1in26

One in 26 people in the United States will be diagnosed with epilepsy in their lifetime, according to the Epilepsy Foundation. For Wyatt, that diagnosis came at just 10-months old.

“Neither my husband or I had ever dealt with anybody that's had epilepsy before,” Keele said. “So this was a big learning experience for both of us. In the very beginning, we were scared to death all the time because of what we didn’t know and all the scary things that you hear about epilepsy.”

It’s a disease wrapped in a lot of stigma and misunderstanding, Keele said, and their family—Wyatt especially—has experienced the resulting isolation. But they remain guardedly optimistic about the future.

“As parents we try very hard to make sure Wyatt doesn’t feel like he is different,” Keele said. “We feel that is so important because he always says he just wants to be normal. Unfortunately, this is our normal, but we try to tell him God made him this way because he’s one tough kid and can handle anything thrown at him. We are excited because this could be life-changing for him.”

The Seizure Recognition and First Aid Certification program helps individuals understand and recognize types of seizures, identify signs and symptoms of each, learn how to administer first aid when witnessing a seizure and outlines when to call for help.

“We sought to develop the program in-house knowing that Cook Children’s was an ideal venue to demonstrate how a company could institute wide-scale implementation of the Epilepsy Foundation's training to get large numbers of people educated,” said M. Scott Perry, M.D., epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s. “Several of our nurses completed the necessary instructor education and, subsequently, took the training and made it an online course available to our staff. We’re encouraging all staff to complete the training in an effort to make Cook Children’s seizure safe.”

Dr. Perry sits on the professional advisory board for the Epilepsy Foundation of America and chairs the Public Health and Education Committee that reviews the course’s content.

About one in 10 people may have a seizure in their lifetime, according to the Centers for Disease Control. Although common, seizures are as varied as the individuals they impact. While some may result in a visible loss of consciousness or uncontrolled movement, others may be invisible to those who lack experience with or are unaware of the nuances of seizure disorders.

“This program breaks through stereotypes about seizures, even among health care professionals,” said Aubrey Esparza, MSN, RN, CPN, neurosciences clinical nurse leader at Cook Children’s. “Seizures can present in many different ways. Some can be subtle, so it is important to know the signs to look for.”

Oftentimes, unrecognized seizures are incorrectly labeled as behavioral problems, attention deficits or even substance abuse, resulting in a lapse of timely medical treatment, according to Esparza. Knowing what to look for and being able to describe the seizure activity in detail is key in getting individuals the help they need. The certification program emphasizes the importance that seizure description plays in diagnosis and treatment and the types of information health care providers need from a witness for better diagnosis and treatment.

“When a seizure is presumed to be something else, a child is unable to receive timely medical treatment," Esparza said. "Knowing what to look for and being able to describe that seizure activity in detail gives providers so much information as to how to diagnose and treat an individual. The more we know about what an individual’s seizure looks like, the better.”

Certification was first offered in-house to Cook Children’s inpatient neurosciences staff members in September. Since then, 56 members of the neurosciences team have completed certification—now a mandatory part of their continuing education employee training. But understanding how to recognize a seizure is also very valuable for those on general medical floors and in high-traffic areas like patient registration or the cafeteria, and the training is suitable for both medical professionals and non-medical employees. All Cook Children’s staff are encouraged to complete the optional one-hour course through the hospital's employee education portal.

The certification program is also offered to families of patients at risk for seizures or newly diagnosed with epilepsy. So far, nine families have completed the training and have reported increased confidence in managing seizure activity as well as the ability to better recognize and describe seizures. Even families who have children with epilepsy for multiple years have reported that the course is extremely valuable. Training for patient families is currently offered once a week via Zoom and will be provided in-person once it is safe to do so.

The Epilepsy Foundation’s course is open to any adult interested in increasing their confidence in recognizing seizures and providing seizure first aid. It is designed for anyone who works, lives or plays in a setting where seizures could occur or who interacts with someone who has seizures, according to the Foundation.

For more information on how you or members of your organization can become Seizure Recognition and First Aid Certified, visit www.epilepsy.com/firstaid or contact your local Epilepsy Foundation.

Miller Queen suffers from a severe and debilitating form of epilepsy known as Dravet syndrome, but you’d never know it by looking at him. At 7 years old, Miller is doing things that never seemed possible like playing soccer and going to school.

“Daily life when you don’t have seizure control is just a rollercoaster,” his mother Chelsea Queen told NBC 5. “You’re kind of always on edge waiting on the next seizure to happen.”

Starting at 6 months old, Miller was having as many as 10 seizures a day. Every treatment he tried failed and his parents were afraid to take their eyes off of him for even a moment.

Then, they found Cook Children’s and M. Scott Perry, M.D.,  an epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children's.

“When you deal with epilepsies that are so difficult to control, it certainly becomes difficult not to feel that there’s not an answer,” Dr. Perry said.

Miller was enrolled in a clinical trial for the drug fenfluramine, which was once used as a popular appetite suppressant. Only a handful of hospitals nationwide were involved in the trial and Cook Children’s happened to be the only one in Texas. The drug completely stopped Miller’s seizures.

“The treatment completely changed his life,” Queen said in the interview with NBC 5. “He’s always been such a happy kid but now he’s able to experience life to the fullest.”

Overall, the clinical trial showed fenfluramine reduced seizures on average by about 70%. The research helped lead to approval from the Federal Drug Administration, opening up fenfluramine as a treatment for everyone with Dravet syndrome.

“The next medication to try and make you seizure-free is probably 2%, but you know what, you might be that 2% so that’s why we keep looking for it,” Perry said.

For Miller’s parents, they know this to be true.

Matt Queen, Miller’s father told NBC 5 “If something doesn’t work, don’t lose hope.”

What is photosensitivity?

Photosensitivity is a phenomenon that occurs in approximately 3% of people with epilepsy, so this risk impacts a small percentage of people with epilepsy overall. For those with photosensitivity, exposure to certain patterns and frequencies of flashing light over a period of time may induce a seizure. For many, the trigger can be very specific and vary from person to person – certain colors or wavelengths of light, particular frequencies (often between 5-30 flashes per second), and specific patterns could be triggers.

Movies with flashing lights aren’t the only potential photic triggers in our environment. Other potential examples include:

• Strobe lights used at dances or when part of fire alarms
• Sunlight flickering off water, shining through Venetian blinds or through roadside trees
• Lights hanging down through bridges or tunnels
• Television or computer screens with rolling images

How do you know if you are photosensitive?

The easiest way to know if you are at risk for photosensitivity is through electroencephalogram (EEG) results. Often, as part of the EEG exam, patients are exposed to strobe lights at various frequencies during the study. The neurologist reviews the EEG to see if there were changes to the brainwave pattern during the lights suggesting a higher risk of seizures. This is called a photoparoxysmal response (see the image to the right). If that pattern is present, sometimes the technicians will then repeat the test using colored filters over the strobe light to see if they can make the trigger disappear. If they can, some people can wear polarized colored glasses to filter out the triggering light and avoid the photic response.

Certain epilepsy syndromes are known to have a higher association with photosensitivity. These include the idiopathic generalized epilepsies and some named syndromes below.

• Dravet Syndrome
• Juvenile Myoclonic Epilepsy
• Jeavons Syndrome
• Sunflower Syndrome
• Unverricht-Lundborg Disease

What steps can you take to avoid photic-induced seizures?

Disney did not indicate which scenes in the film may contain potential photic triggers, so the viewer must remain aware of potential triggers. There are multiple easy steps people can take to avoid photic triggers and still enjoy the film and other environments where photic triggers may be present.

• Close one or both eyes and look away during scenes with sustained flashing lights.
• If you are playing a video game or watching TV/movie and you start to get jerks in your arms/legs, turn away from the screen immediately.
• Use computer screens with glare guards.
• Turn off the autoplay features on social media (videos can automatically play on social media platforms that have strobe effects and may trigger seizures) – not sure if we want to comment on the court case Monday of Kurt Eichenwald who -was the victim of a strobe attack.
• Turn down the brightness of TV/computer screens.

While photosensitivity can be a seizure trigger for some people with epilepsy, it should not be a deterrent from enjoying these activities. Being aware of the potential for photic triggers and taking steps to avoid sustained exposure can help prevent seizures while still enjoying the event.

So go forth, grab a popcorn, and enjoy the movie – and may the Force be with you!

"Bubbles. Bubbles. Up. Up. Pop!"

The nurse taking Aaden's vitals before his doctor's appointment can't help but smile too. She's blowing the bubbles as she takes Aaden's blood pressure and weight at the Jane and John Justin Neurosciences Center at Cook Children’s.

It’s a routine visit for a little boy whose life has been entirely unpredictable until recently.

Stephanie Balderamos, Aaden's mom, smiles and soaks the moment in for all it's worth. Smiles didn't always come so quickly to Aaden or his mom. Aaden was born with tuberous sclerosis complex (TSC), a genetic disorder that causes benign or nonmalignant tumors to form in many different organs in the body.

"I had a mantra when we were adjusting to all of the lifestyle changes that come with being a parent to a child with special needs – This is our new ‘normal.’ The meaning behind that has changed so much for me after Aaden's surgery,” Stephanie said. “I know he still has TSC, and it's possible the seizures could come back, but he's not having them right now. That's a big change for us because Aaden's happy now. We're not used to that. We're used to Aaden waking up every day and having at least four or five seizures by 9 a.m. Now he can go play and be a happy little boy."

Living with TSC

Tuberous sclerosis affects approximately 50,000 people in the U.S. The brain, heart, kidneys, skin, lungs and eyes are some of the more critical locations tumors appear. When tumors form in the brain, they can cause seizures, developmental delays, intellectual and mental disorders. TSC is also considered a leading cause of medically-intractable epilepsy and autism.

M. Scott Perry, M.D., an epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children's, began treating Aaden when he was only 4 days old.

Aaden's first seizure occurred when he was 4 months old. Stephanie grabbed her phone to record Aaden's seizure and sent the video to Dr. Perry.

Aaden's infantile spasms lasted about a month, and doctors controlled his seizures with medicine (vigabatrin). But a new battle began in February 2017 when Aaden developed focal onset seizures.

His seizures were frightening to watch. With some seizures, Aaden wouldn't speak. With others, he babbled incoherently. His lips and eyelids would sometimes turn blue. Other times, he would shake and convulse. Some seizures lasted as short as 10 seconds, while others would last for minutes at a time. One seizure lasted more than an hour and a half.

Aaden's eyes twitched, and sometimes he held his eyes and head because they hurt so bad. Following one scary incident, Aaden stopped breathing, and he had to be rushed by ambulance to Cook Children's.

Robotic Surgery: A Precise, Life-changing Operation

By this point, Aaden had tried numerous treatments from conventional medications to research trials. While each helped reduce his seizures, none got rid of them completely. The neurology team recommended epilepsy surgery would be an option. But first, there was work to be done.

The Epilepsy Monitoring Unit at Cook Children's gathered tons of data, including EEGs and multiple types of brain scans. The information showed numerous areas in Aaden's brain had the potential to cause his seizures. Still, the data began to point to one area as the primary cause.

The data captured from video EEG and brain scans painted a picture for Dr. Perry, Neurosurgeon David Donahue, M.D., and Hayden Head, M.D., a neuroradiologist. Each test characterized the seizures differently – the PET scan measured metabolism and energy production in the brain, while the SPECT scan measured blood flow and the EEG gathered electrical activity data. All contributed like colors on a canvas to paint the picture of where in Aaden's brain, his intractable seizures arose.

For Aaden, the seizures took place in the right hemisphere of his brain. The good news was motor and language functions are a distance away from where the seizures started, so they were unlikely to be at risk during surgery. The bad news was the pathways that control vision are located near the suspected region of seizure onset. This area has the most significant potential for concern for the doctors and his mother, Stephanie.

Dr. Perry and the team narrowed the search for Aaden's seizures to a single section of his brain. However, they still needed to be more precise – to locate the smallest area of brain possible causing his seizures and to avoid damage to critical visual pathways.

Dr. Donahue performed a stereoelectroencephalography on Aaden in November 2018. This minimally-invasive surgical procedure was used to help Dr. Perry identify more precisely where Aaden's seizures began. Dr. Donahue then placed the electrodes in specific, targeted brain areas using robot assistance and imaging in the operating room.

Dr. Perry recorded additional seizures and narrowed down the region of the brain responsible for Aaden's epilepsy. With the new areas identified, Dr. Donahue found it easier to resect, or remove, the location or locations causing the seizures during surgery on May 8, 2019.

The Freedom of Living without Seizures

On Nov. 11, 2019, Stephanie sits in a room at the Jane and John Justin Neurosciences Center, waiting to see Dr. Perry and Dr. Donahue for the second follow-up visit since the surgery.

Six months after the surgery and Aaden has not had one seizure.

"I'm so glad we had the surgery. Of course, everybody is going to be scared when you think of brain surgery. But it's the best decision we've ever made," Stephanie said. "He's been seizure-free ever since. Not one seizure since the surgery."

The Disney Channel is on, and Aaden, who will turn 4 on Dec. 13, doesn't seem to have a care in the world. Well, he does have one.

"Paw Patrol?"

Stephanie breaks the news that one of her little boy's favorite shows isn't on right now. One can't help but smile that this is Aaden's biggest issue while waiting to see a neurologist and neurosurgeon.

With Aaden doing so well, it means less time at Cook Children's. Before the surgery, Stephanie looked at the medical center as a second home.

"We were here all the time. We had so many different appointments, and it wasn't just Neurology. Sometimes we would have two appointments on the same day with other departments like Urology or Cardiology," she said. "It's almost weird now not being at Cook Children's all the time. We were here a lot. But that's something that's changed for us. We were here all the time, and now we don't have as many doctor's appointments. We get to do a lot of fun things now we couldn't before. Even though we love Cook Children's."

As Stephanie finishes her thought, the door knocks and in walks Dr. Perry. The visit is to see how Aaden's doing following the surgery and to talk about the eventual goal of taking him off one of his two remaining medications for seizures. The decision is quickly made after a discussion between Dr. Perry and Stephanie to continue both medicines for now. Things are going too well after surgery.

"There are still nerves there," Dr. Perry said. "Do you start taking away some medication right away? Yeah, you could. I would love to have him on less, but I don't want to mess up the good stuff we have going on right now. You know there's a lot of work involved. There's a lot of training. There's a lot of constant learning that goes into figuring out how to do the best we can to cure a child's epilepsy. It's what makes us glad we do what we do."

Next up is Dr. Donahue. Even after years of experience as a neurosurgeon, he marvels at the child standing in front of him.

"How's his scar looking? Looking good?" Then he takes a look at Aaden. "My Lord, that's amazing."

Dr. Donahue said there's a balance when operating on children with TSC. He wants to remove as much epileptogenic tissue as possible without damaging the child.

"You have to find the fine line between aggressivity and being sensible," Dr. Donahue said. "Looks like we hit the sweet spot with Aaden. The hardest thing is to find where the seizure focus is, but our epileptologists are good, and that's what they did here. They were the ones to find that spot. It makes me amazed at how strong these children are and how they can recover. Kids bounce back. They are so resilient. Of course, it makes me feel great inside to see how well he's doing and that what we did worked, but the main thing is the kids themselves and how strong and courageous they are."

Dr. Donahue talks to Stephanie for a few more minutes and tells her he will see her again in a few months. Then he's off to his next case.

The entire visit lasts less than 30 minutes. It's happily routine. So far from where they've come, but Stephanie says much work remains. Aaden remains in speech and occupational therapy. He speaks and has the maturity level of a 2-year-old right now.

Stephanie remains cautiously optimistic about Aaden's future. She knows that there's a chance Aaden could begin having seizures again someday.

But for now, Aaden and Stephanie are living in the now and enjoying every minute of it.

"When I read about side effects before the surgery, I read about behavioral changes,” Stephanie said. “The one that stuck out in my head was ‘bad behavior.’ But it was different. We can go to the store. We can go to Target now and before I wasn't able to go anywhere. We can go to birthday parties now. For me, going to Target for 30 minutes is a significant accomplishment for us. Now, it's just like things have calmed down. It's an amazing feeling to be able to let Aaden play independently without having to keep a constant eye on him anxiously waiting for a silent seizure."

Moments earlier, the 15-year-old Weatherford, Texas teen was watching a movie with his younger sisters when all of the sudden, a fit of cursing and yelling came over him. He wasn’t doing it on purpose, but he couldn’t stop. The strangers staring at him didn’t know what was happening.

Feeling he had no other choice, it was then that Damian decided to stop going out in public.

“Everyone in the theater began pointing and laughing at him. People didn’t get it, they looked at him like he was crazy,” said Patricia Wells, Damian’s mother.

Being misunderstood is something Patricia had grown used to over the years of caring for Damian. Teachers, family members and even some doctors couldn’t comprehend how a boy who seemed so normal one moment could have frightening, emotional outbursts for no apparent reason the next.

WARNING - Some may find this video difficult to watch. It shows Damian Wells during a seizure. 

It’s hard to say how Damian ended up at this point.

At the age of 5, he was diagnosed with epilepsy. Patricia remembers holding her little boy as he would scream, a look of terror on his face. She used to call these spells, but in reality they were seizures. The medication he was prescribed helped keep the seizures at bay for many years, but something changed around the time he turned 12.

“He could be watching the Disney Channel and he would go into a rage, just out of the blue,” said Patricia. “It was like watching a horror movie and your child was right in the middle of it.”

Damian underwent an electroencephalogram (EEG), used to detect abnormal electrical activities in the brain. The test should have revealed if the fits were caused by epilepsy. It didn’t. Instead, doctors were left with little explanation and suspected his problems were psychological.

“I knew that couldn’t be right,” said Patricia. “Over time, we were told he had Tourette’s, PTSD (post-traumatic stress disorder) and many other mental disorders. None of them ever made sense.”

Damian’s life began to deteriorate. He experienced up to 50 fits a day, and by the tenth grade could no longer go to school. Scared he would hurt someone or himself, his family turned to a psychological facility for help. Shortly after, Damian ended up in the Pediatric Intensive Care Unit (PICU) at Cook Children’s. He’d been given a toxic dose of a drug used to treat behavioral issues.

While he didn’t know it at the time, this hospital stay would be the turning point for Damian.

This would be the first time he’d meet Scott Perry, M.D. an epileptologist and medical director of the John and Jane Justin Neurosciences Center at Cook Children’s.

“I was consulted by the PICU to check on a child they believed had Tourette’s,” said Dr. Perry. “Once I met the family, I realized that wasn’t the case. They described a look he would get right before a fit. It was a distinct frown, followed by fidgeting and cursing. That information was key.”

The frown they were describing is called Chapeau de gendarme, a tell-tale sign of frontal lobe seizures.

Because Damian had this stereotyped behavior (i.e. he always had a frown, followed by fidgeting, followed by cursing), Dr. Perry was confident epilepsy was to blame. He just had to prove it.

Once again, Damian underwent an EEG and once again, it didn’t reveal much. Dr. Perry wasn’t giving up though. He ordered more tests and compared those tests to the EEG results.

“I knew I was looking for something in the frontal lobe of the brain because of his stereotyped behaviors, the brief duration of each event, and the circumstances in which it occurred. When seizures come from the frontal lobe, strange, hyperactive behaviors develop,” said Dr. Perry. “I’ve never seen anyone curse during a seizure before, though, so that was unique.”

Dr. Perry’s suspicions were right. Using various tests, he was finally able to pinpoint the very spot in Damian’s brain where the seizures were occurring.

“As a mom, I spent every day afraid I was going to lose my son,” said Patricia. “Dr. Perry always said, ‘I’m going to fix this, I’m going to figure this out,’ and he did. He’s an angel. He saved my son’s life.”

In September 2015, Damian underwent a brain resection, meaning the portion of his brain where the seizures were occurring was removed.

Learn more:

• Scott Perry, M.D.
• Jane and John Justin Neurosciences Center 
• Cook Children's plays vital role in successful CBD study involving epilepsy patients 
• Drug in Cook Children's epilepsy trial shows positive results in separate trial
• Texas legalizes non-euphoric cannabidiol for seizures in epileptic patients
• Cook Children's Epilepsy Monitoring Unit

Making a school “seizure ready” can entail a number of steps and it is important to get started on these as soon as possible. M. Scott Perry, M.D., medical director of Neurology and an epileptologist at  Cook Children's, offers the following advice.

Step 1: Does your child have a seizure action plan?

One of the most important components of being prepared for the school year is having a plan in place should a seizure occur. A seizure action plan is a form provided by your medical team which describes the types of seizures a child has and what to do if one occurs. The plan covers the key components of seizure first aid, as well as for instructions on how and when to use rescue medications for the child’s seizures. A standard form is provided by the Epilepsy Foundation and is commonly used.

Click here for a Seizure Action Plan from the Epilepsy Foundation.

For future reference, I encourage parents to begin requesting updated Seizure Action Plans at least a month before the school year starts, as many clinics get thousands of requests before the start of school and completing them may take time.

Step 2: Is your child’s rescue medication appropriate for their current age and weight?

Rescue medications are commonly prescribed to patients with epilepsy and are most often used for seizures that are prolonged or occur in clusters. Each patient will have unique circumstances for which a rescue medication may be appropriate. Some patients may not have a rescue medication as part of their Seizure Action Plan – for example, if their seizures are rare, well-controlled, and typically very brief.

A variety of rescue medications are available. For prolonged seizures, particularly convulsive type, patients may use rectal diazepam or intranasal midazolam. These medications are favored because they can be absorbed quickly for rapid treatment of the seizure and they don’t require putting anything into the mouth of the person that is seizing. Rectal diazepam comes ready to use for the age/weight of the child. Currently, nasal midazolam will have to be measured out by school staff before administration, but a new ready-to-use formulation has been approved by the FDA and should be available soon.

For patients with clusters of brief seizures, rescue medications such as clonazepam can be given by mouth between seizures. Several other medications, such as diazepam, midazolam, and lorazepam, also come in oral formulations that might be swallowed or put between the gum and cheek of a patient for effect.

It is very important that parents and their providers make sure the rescue medication prescribed for the child is appropriate for their age and weight. As a child grows, the dosing of medications will change. For those patients that have rare seizures and rarely require rescue medications, it is possible that the dose prescribed years ago may no longer be appropriate and therefore, may be less likely to work if the dose is too low.

Step 3: Can your child’s school administer the rescue medications provided?

It is important to know what medications your school is able and willing to give. While rectal diazepam is commonly used in schools, there are some school districts in the U.S. that only allow the medication to be given by a school nurse or similar medical personnel, even though the drug was designed to be administered by laypeople. If your school does not have a full-time nurse, there may be times when the medication cannot be given and an alternative rescue plan may be needed. Likewise, some school districts will not administer nasal midazolam because this formulation of the drug is not FDA approved to be utilized in this manner, though in the medical profession, we’ve used it this way for many years. Talk to your school about the seizure action plan recommended by your medical team. If they are unable to give rescue medications suggested, talk to your team to see if there are alternatives or if training can be provided to the school to ensure the rescue plan is followed.

Step 4: Is your child’s school “seizure ready”?

Probably the most important step in making sure your child is safe at school is making sure the people caring for them during the day are prepared to recognize and treat seizures. Despite how common epilepsy is, many people are only familiar with one type of seizure – tonic clonic (previously referred to as “grand mal”).

It is important that teachers and staff understand what seizures look like for each child with epilepsy, so they can recognize when rescue treatments may be needed, but also to keep parents informed if seizures are occurring frequently and may require a visit to the doctor to discuss treatment changes.

Some seizures, such as absence and partial seizures, may only manifest as staring or decreased response. For these cases, it is important that staff are aware so they can recognize seizures and don’t confuse these behaviors with simply ignoring instructions or bad behavior. Finally, for some children, their first seizure may occur at school and it is important that staff be able to recognize seizures in those who may have no prior history.

There are a number of ways for school personnel to become educated about epilepsy. The Epilepsy Foundation provides many resources including online and in-person training of school nurses and staff on seizure recognition and first aid.

Click below for a couple of great tools:

Managing Students with Epilepsy – school personnel and school nurse training

Seizure Training for School Personnel

The Epilepsy Foundation will also provide an ECHO course for school nurses starting October 2019. This is an online, interactive course for school nurses that includes instruction from epilepsy experts and allows for collaborative case presentations to discuss seizure recognition, first aid, and rescue treatments. Information for this course will be available on www.epilepsy.com in the near future. A helpful Seizure First Aid poster can be found by clicking here.

Finally, the Epilepsy Foundation will host a webinar from 7-8 p.m. CST on Wednesday, Sept. 25, 2019, on rescue therapies are open for anyone to attend.

Resources For Parents:

• Cook Chidren's Comprehensive Epilepsy Program
• Epilepsy
• Sam's Law
• Seizure Action Plan
• Seizure First Aid
• Seizure Training for School Personnel
• Managing Students with Epilepsy - School Personnell and School Nurse Training

Watch the full story by clicking here.

The first Texas dispensaries are now opening and selling their products to eligible patients across the state. But Texans who are interested in pursuing the so-called CBD oil treatment say there are several obstacles to getting the medicine.

There’s roughly 30 doctors across the state eligible to prescribe the medicine. Also, CBD oil is still federally illegal, so people have to pay out of pocket to secure it. And there are only three Texas dispensaries who can sell the medicine — two in Austin and one in Schulenburg.

In this video documentary, The Texas Tribune followed two families as they began their journey in pursuing medical cannabis treatment.

Full story here.

"I don’t know that she’s ever had a time where she’s been completely seizure-free," says her mother, Laci.Kadience has a genetic disorder called Tuberous Sclerosis, or "TS."

It affects about one in every 4,000 people, says Dr. M. Scott Perry of Cook Children's Medical Center. He says it affects almost every single organ system and often leads to debilitating seizures.

Read full story here. 

First, protect the child from harm. Position the child in their side. They should not lie on their stomachs. Children have limited protective reflexes during a seizure. They may suffocate if lying face down. Similarly, they should not lie on their back. Children often drool or vomit at the beginning of or during a seizure. They may aspirate. Therefore, rotate them to their side. Do not stick your finger or any other object in the child’s mouth. They cannot swallow their tongue. Protect them from hard or sharp objects.

Look at your watch. Most seizures stop within several minutes. This seems like forever while the seizure is occurring. After it stops, let the child sleep. If—by your watch—the ongoing convulsing approaches five minutes, then call 911. Once that amount of time has elapsed the seizure may not quit on its own.

If this was the child’s first and only seizure, a doctor or emergency-room visit is advisable to determine whether any specific disorder triggered it. Be assured, however, that it is only a very rare seizure that is caused by a brain tumor.

About the Source
Howard Kelfer, M.D. has seen dramatic growth of of the neurology practice at Cook Children's since its inception in 1994. He has been a guiding force in its ability to serve thousands of patients. His nationally recognized team is an admittedly cohesive one which has grown in visibility and ability to change lives.