Neuroplasticity and epilepsy: Why our ever-adapting brain cells are a blessing and sometimes a curse

Neuroplasticity and epilepsy: Why our ever-adapting brain cells are a blessing and sometimes a curse

Brain plasticity is often touted as a miracle cure, but it does have a dark side. Addiction, for example, occurs as a result of neuroplasticity within the brain’s reward system. Now, an animal study by a team of researchers from Stanford University shows that a newly described form of plasticity likely contributes to the progression of epilepsy.

The new study, led by Juliet Knowles, was performed on an inbred strain of rats that grow to develop spontaneous ”absence” seizures (which involve a lapse in consciousness) similar to those in humans.

The results, published in Nature Neuroscience, show that the electrical activity associated with epileptic seizures increased both the proliferation of immature oligodendrocytes and the number of mature oligodendrocytes in the corpus callosum, leading to abnormal overproduction of myelin that in turn promoted the progression of epilepsy.

It is, however, too soon to directly extrapolate the findings to epilepsy in humans. Epilepsy takes various forms in humans, which differ in cause, age of onset, and location and severity of seizures, and so the role of myelin plasticity is also likely to differ between each form. Nevertheless, further investigation of maladaptive myelination may eventually lead to novel strategies for treating epilepsy and other neurological conditions.

 

Source: geneticliteracyproject.org, Mo Costandi

Santa Barbara Neuroscience Institute Offers New Surgical Option for Brain Tumor, Epilepsy Treatment

Santa Barbara Neuroscience Institute Offers New Surgical Option for Brain Tumor, Epilepsy Treatment

Cottage Health’s Santa Barbara Neuroscience Institute (SBNI) is the first healthcare provider on the Central Coast to use the latest image-guided laser technology to treat brain tumors, lesions and epilepsy.

The NeuroBlate System delivers Laser Interstitial Thermal Therapy (LITT), a minimally invasive surgical technique using MRI-guided laser light to ablate unhealthy brain tissue.

It can be an effective treatment option for recurrent and hard to reach brain tumors and lesions. It is also used to treat certain types of epilepsy.

“LITT provides patients with difficult-to-access lesions, recurrent brain tumors and epilepsy with an alternative treatment method,” said Dr. Nicole Moayeri, a neurosurgeon affiliated with the Santa Barbara Neuroscience Institute.

“Being the first in the region to offer LITT is a testament to Cottage’s commitment to staying at the forefront of neurosurgery,” she said.

LITT provides the benefits of traditional brain surgery with less risk and a shorter recovery time. Unlike traditional brain surgery, LITT does not require a large opening in the skull.

Because LITT is MRI-guided, the neurosurgeon can visualize the specific area of the brain to be ablated. The precise nature of the procedure helps to lessen the likelihood of harm to nearby healthy brain tissue.

“Because LITT is a minimally invasive surgery, it is generally well tolerated and has a short recovery time,” said Dr. Moayeri. “We are excited to offer LITT as an alternative treatment option for patients who meet the criteria.”

To learn more about LITT and services offered by SBNI, contact nurse navigator Chelsea Brooks, 805-450-8820 or cbrooks@sbch.org.

 

Resource: noozhawk.com, Cristina Cortez

Depriving yourself of sleep can lead to serious health conditions

Depriving yourself of sleep can lead to serious health conditions

There are things you can to to improve the quality of sleep and avoid complications.

As a part of our sleep week coverage, KHOU 11 is taking a look at sleep deprivation in parents and the resources available in Houston to help.

Tanaya Mitchell was just one of many parents who suffered from sleep deprivation.

“We’re supposed to get a woman is supposed to get between eight and 12 hours,” she said. “That is not feasible, especially for a mother who is single and with a full and busy schedule like I had with both of my daughters.”

Mom of two, Tanaya’s case lack of sleep led to the discovery of an epilepsy diagnosis.

I was talking to my girls and I came out of the bathroom and I was communicating with them and my eyes were all in the back of my head and I fainted in front of them,” Mitchell said.

Little sleep triggered her condition.

“So, there’s a lot of health consequences. And even in the acute phase, one or two nights of sleep deprivation can affect you,” Dr. Puneet Patni Pulmonary, critical care and sleep medicine physician, said.

Dr. Patni said that includes increased risk of diabetes, viral infections, cholesterol issues, and cardiovascular troubles.

He works at Kelsey-Seybold sleep center in Houston and can have sleep examined for patients in hotel-style rooms that are comfortable.

“The typical routine is that the patient comes in in the evening and they’ll get some monitors put on them that record airflow or oxygen saturation and body movements and position EEG data,” Dr. Patni said.

Then in a control room next door, medical tech staff look for problems with airflow, respiration, excessive movements or brainwave patterns.

“That data, you know, needs to be reviewed,” Patni said. “So, it’s first scored by our technicians here in the lab.”

The information is sent over to a sleep physician who interprets it to the patient.

As a parent, if your sleep patterns check out fine, chances are you don’t have a set daily routine for your kids, which might be keeping you from sleeping well.

“It’s a matter of just juggling the competing demands that everybody has with work and being a parent, so trying to maintain steady bedtimes and wake up times is important,” Patni said .

Tanaya started doing this to put her health first.

“I had to manage my sleep better. I noticed that when I’m really tired or if I’m not getting adequate sleep, I can feel the change in my head again,” said Mitchell.

Dr.Patni said a lot of parents think they can catch up on sleep on weekends.

“If you cut off just one or two hours of sleep every night, in studies, what you see is that every day there’s a degradation in your performance. In addition to having a regular sleep schedule? Are they minimizing caffeine to really only kind of in the morning because caffeine has a half life of five, 6 hours,” said Patni.

And grabbing a glass of wine, after you get the kids settled into bed, might not be ideal.

“Alcohol in the evenings, sounds great. Makes you a little drowsy, but it actually disrupts the sleep quality,” Patni said.

Overall, in order to get better sleep as a parent, you must cut down on the distractions, which Tanaya said improved her quality of life drastically.

“I’ve been managing my sleep better,” she said. “You know that  means I have to say no to some things, so you know, not hanging out on girls night.

 

Source: khou.com, Ugochi IIoka

How to make workplaces more inclusive for people with invisible disabilities

How to make workplaces more inclusive for people with invisible disabilities

Employees with diabetes, epilepsy, Crohn’s disease, chronic pain, and other invisible disabilities should all be part of your DEI plan, says this HR leader, who is living with a developmental disability.

The conversation around diversity, equity, and inclusion (DEI) has gained significant momentum in recent years, often with a focus on identities related to race, gender, and sexuality. While these discussions are essential and have led to positive changes in the workplace, it’s crucial not to overlook another vital aspect of diversity: disabilities. As we recognize National Disability Employment Awareness Month in October, it’s time to shed light on a significant aspect of disability that often goes unnoticed—the world of invisible disabilities.

Inclusivity in the workplace has come a long way, and many companies have recognized the value of promoting diverse teams and fostering a sense of belonging for all employees. However, as some organizations decide to eliminate Chief Diversity Officers’ roles, we must remain cautious not to alienate employees. It is crucial to ensure that their needs are still met. This is not only because it’s the right thing to do but also because there are legal implications, especially regarding potential discrimination related to disability status.

THE UNSEEN SIDE OF DISABILITY

Disability status is often considered when shaping workplace policies, but too often, these policies focus primarily on physical disabilities. While accessible buildings, adaptive technology, and workspace accommodations are essential in maintaining an inclusive workplace, true inclusivity requires us to go beyond adapting only to the disabilities we see. Numerous disabilities are not immediately apparent, such as diabetes, epilepsy, Crohn’s disease, chronic pain, and visual or auditory disabilities, which can significantly impact how people work. Individuals with these conditions often require additional accommodations to thrive in their roles.

Moreover, we must recognize and destigmatize learning and developmental disabilities that affect social interactions and communication styles, such as autism spectrum disorders, ADHD, mental illness, and other social disabilities. As both an HR leader and someone who lives with a developmental disability, I can personally attest to the challenges we face in the workplace. Our unique communication styles can be misunderstood, and we may be perceived as too direct, unsociable, or in some cases, even unprofessional.

Many of us with learning or developmental disabilities struggle with social interactions or compulsory gatherings, leading to anxiety and discomfort. We may need to make excuses for not staying long at work events or choosing to sit apart to alleviate the anxiety of close proximity. Unfortunately, this can lead to us being seen as aloof or unapproachable when, in truth, we struggle with many social cues others rely on. The isolation we often feel is exacerbated when the work environment fails to educate other employees on interacting with us and making us feel welcomed and valued rather than different.

Over the years that I have worked on adapting to what is considered “normal,” most people do not even realize I have a disability. However, stigma remains a significant concern, especially for non-physical disabilities, which are so unique to the individual that there is no one-size-fits-all approach. For example, accommodations for a full-time wheelchair user can be straightforward. However, accommodating someone with chronic pain who experiences fatigue and only sometimes use a mobility aid is much less so. The spectrum of limitations varies from person to person, making it essential to treat each individual and their needs with the understanding and empathy they deserve.

One of the main challenges faced by individuals with unseen disabilities is the reluctance to disclose their condition at work. Research shows that a staggering 88% of employees with invisible disabilities choose not to reveal them to avoid stigma and discrimination. This fear of being judged or misunderstood can lead to further isolation, resulting in lower morale and reduced productivity. We must create an environment that encourages employees to feel comfortable seeking the accommodations they need without fear of repercussions.

CREATING AN INCLUSIVE ENVIRONMENT FOR UNSEEN DISABILITIES

As we celebrate National Disability Employment Awareness Month this October, let us renew our commitment to improving disability awareness in the workplace. Here are some important steps that companies can take to foster a more inclusive environment for employees with unseen disabilities:

  • Educate and Raise Awareness: Offer training and workshops to employees and managers to increase awareness and understanding of unseen disabilities. Create an open dialogue where employees can share their experiences and challenges without fear of judgment.
  • Implement Flexible Accommodation Policies: Implement flexible accommodation policies, recognizing that accommodations may vary widely depending on the person and their disability and that it’s essential to be responsive to their needs.
  • Promote a Culture of Acceptance: Foster a culture of acceptance and empathy where employees feel comfortable being their authentic selves without fear of discrimination. Embrace and celebrate diversity, including those with unseen disabilities, and recognize their strengths and contributions to the organization.
  • Create Employee Resource Groups (ERGs): Establish ERGs for employees with disabilities to provide a support network and platform for sharing experiences and advocating for positive change.
  • Review Existing Policies: Regularly review existing policies to ensure they address the needs of employees with disabilities. Make necessary adjustments to promote inclusivity.

By recognizing the importance of unseen disabilities in the workplace and destigmatizing disabled workers, we can create a more inclusive and supportive environment for all employees. Let us take this National Disability Employment Awareness Month as an opportunity to reflect on our practices and commit to fostering a workplace that embraces diversity in all its forms. Together, we can build a stronger, more inclusive, and compassionate workforce for the future.

 

Source: fastcompany.com, Yolanda Slan

U-M scientists develop a new model for understanding sudden death in epilepsy

U-M scientists develop a new model for understanding sudden death in epilepsy

Researchers at the University of Michigan have developed a model for studying one type of familial epilepsy, opening the door to understanding—and eventually targeting—the mechanisms that lead to the disorder and its associated fatalities.

The research, published in the journal Annals of Neurology, has already revealed important insights into interactions between breathing, heart rate and brain activity during fatal seizures.

Mutations in a gene called DEPDC5 are a common cause of familial focal epilepsy and increase the risk of sudden unexpected death in epilepsy (SUDEP), a devastating consequence of epilepsy that ranks second only to stroke in potential life-years lost due to neurological diseases. But scientists have been unable to determine the underlying processes that lead to SUDEP in DEPDC5-related epilepsy.

“Without a clear understanding of the precise mechanisms that drive SUDEP, it is extremely difficult to predict its occurrence in patients,” said Yu Wang, associate professor of neurology at the U-M Medical School who also works with epilepsy patients at Michigan Medicine. “Having an accurate model that we can study at the molecular level is essential for understanding the complex pathophysiology of this condition and identifying therapeutic targets.”

Model organisms are an important tool for gaining insights into human health and disease that have significant implications for treating patients. By understanding how a genetic mutation alters activities within cells, or even communications between various systems in the body, researchers can uncover specific proteins to target with therapeutics, for example. To date, however, the field lacked an accurate animal model of DEPDC5-related epilepsy.

Now, a team led by Wang and U-M neuroscientist Peng Li has accurately recapitulated a model of DEPDC5-related epilepsy in a mammalian model organism, allowing researchers to better understand what takes place within patients with DEPDC5-related epilepsy and what leads to their increased risk of SUDEP.

“This genetic model offers us a way to further check what is causing the physical changes that take place before SUDEP, and what is causing the epilepsy,” said Li, a faculty member at the U-M Life Sciences Institute and assistant professor of molecular and integrative physiology at the U-M Medical School. “It will help us to really zero in on the cell types that are affected and then to figure out—and ultimately target—the molecular pathways causing these changes.”

With the model, the team has identified a unique pattern in DEPDC5-related fatal seizures.

It starts with breath

Once they determined that the animals were closely recapitulating the characteristics found in humans with DEPDC5-related epilepsy—including the type and frequency of seizures and the approximate age when SUDEP occurs on average—the researchers began to record data on their breathing patterns, cardiac function and neuronal activity. Their goal was to gather baseline information about the animals’ health, as well as to observe how these functions change during naturally occurring seizures.

In instances of fatal seizures, the animals’ breathing rate increased significantly, even before changes in heart rate or the brain’s electrical activity, and then stopped completely. When the seizures ended, the heart rate resumed—but breathing ceased completely and never recovered, leading to a fatal lack of oxygen.

The researchers also found breathing irregularities during nonfatal seizures, and even in the animals’ baseline breathing rates. The team believes these results point to a defect in the brain’s breathing control circuit that makes the animals more vulnerable during seizures, which could contribute to the increased rate of SUDEP in DEPDC5-related epilepsy.

“It appears breathing is the first physiological function being affected in epilepsy, even before we can detect any changes in electrical activity in the brain,” said Li, who is also an assistant professor of biologic and materials sciences at the U-M School of Dentistry. “These findings hint at both a potential treatment—ventilating the animals during an epilepsy episode to rescue breathing—and a potential biomarker for predicting the risk of epilepsy patients who may develop SUDEP.”

Jack Parent, co-director of the Michigan Medicine Comprehensive Epilepsy Center and one of the study’s co-authors said that SUDEP is the epilepsy complication most feared by patients and families.

“This work offers them some hope that the epilepsy research field is making progress towards understanding SUDEP mechanisms, identifying potential biomarkers for those at risk, and devising interventions to prevent these catastrophic events,” he said.

 

Source: news.umich.edu, Emily Kagey

Sudden Unexpected Death In Epilepsy: Know The 7 Warning Signs Of SUDEP

Sudden Unexpected Death In Epilepsy: Know The 7 Warning Signs Of SUDEP

Epilepsy, a neurological condition affecting millions of Indians, can be a challenging journey. While most people with epilepsy lead fulfilling lives with proper management, there’s an aspect that often goes unnoticed: SUDEP, or Sudden Unexpected Death in Epilepsy.

SUDEP is a rare but devastating event where a person with epilepsy dies suddenly, without warning.

We will walk you through the seven crucial signs of SUDEP that everyone should be aware of.

Sudden Unexpected Death In Epilepsy: Know The 7 Warning Signs Of SUDEP

What is SUDEP, and why is it a concern for people with epilepsy?

SUDEP can occur in individuals living with epilepsy. While rare, WHO (World Health Organization) states that it is a grave concern because it can happen without any prior indication or prediction.

7 Warning Signs Of SUDEP Recognizing the signs of SUDEP is crucial for early intervention and prevention. Here are the seven warning signs:

  • Frequent seizures: If you or a loved one experiences an increase in the frequency and intensity of seizures, it could be a red flag for SUDEP.
  • Difficulty breathing during seizures: Struggling to breathe during a seizure is a significant risk factor. Seek medical attention if this occurs.
  • Night-time seizures: SUDEP often occurs during sleep, so night-time seizures should be closely monitored.
  • Unusual posture after seizures: If someone remains in an unusual position or appears to have difficulty moving after a seizure, it is a cause for concern.
  • Seizures while alone: Seizures in solitude can be particularly dangerous. Ensure someone is aware and can provide assistance if needed, highlights the National Institutes of Health.
  • Failure to recover after a seizure: If a person doesn’t regain consciousness or appears confused for an extended period after a seizure, seek immediate medical help.

Young age and epilepsy: SUDEP risk is higher in younger individuals with epilepsy. Extra precautions are essential in these cases.

Preventing SUDEP: What You Can Do

While SUDEP can be frightening, as per the Journal of Neurology, Neurosurgery and Psychiatry there are steps you can take to reduce the risk:

  • Medication: Consistently take prescribed epilepsy medications as directed by your healthcare provider.
  • Regular check-ups: Attend regular check-ups with your neurologist to monitor and manage your epilepsy effectively.
  • Seizure safety: Create a safe environment by removing potential hazards and sharing seizure action plans with friends and family.
  • Lifestyle modifications: Adequate sleep, stress management, and a healthy lifestyle can contribute to seizure control.

On A Final Note… SUDEP, or Sudden Unexpected Death in Epilepsy, is a serious concern for individuals living with epilepsy. Understanding the seven warning signs and taking preventive measures is essential for safeguarding yourself or your loved ones.

Disclaimer: This article is for informational purposes only and should not be considered medical advice. If you have epilepsy or know someone who does, please consult a healthcare professional for expert guidance.

 

Source: boldsky.com, Amritha K

Social media is under scrutiny following world-first epilepsy law

Social media is under scrutiny following world-first epilepsy law

Key points:

  • Epilepsy contributed to about 1,100 deaths in 2019 according to the AIHW National Mortality Database
  • In a world-first, Zach’s Law was passed in the United Kingdom on September 19, 2023
  • The breakthrough new law has made it a criminal offence for anyone to try to trigger a seizure in someone with epilepsy by targeting them with flashing images online

 

After three years of campaigning from the Epilepsy Society in the United Kingdom, a new law has passed the House of Commons and House of Lords — making it an official criminal offence to target someone with flashing images online.

At just eight years of age, Zach Eagling, a schoolboy with epilepsy and cerebral palsy, became one of the first victims of a nasty online attack from trolls that was designed to trigger a seizure.

Now, 12-year-old Zach is the namesake of a new law included in the UK Online Safety Bill. Under the passing of this legislation, attackers could face up to five years in jail due to the emotional and physical harm this has caused for people with epilepsy.

However, the impact of Zach’s Law may extend to many platforms that are used by millions of Australians with disability. The Epilepsy Society has been in contact with a number of social media platforms to work on risk reduction for people with epilepsy online, including Twitter, TikTok, GIPHY, Tenor and Facebook.

Zach’s mother, Claire Keer, celebrated the victory after a harrowing experience and multiple years dedicated to the cause.

“When Zach was first attacked on Twitter by internet trolls, sending flashing images to try to trigger a seizure, I could not believe how mindless and malicious people could be,” Ms Keer said.

“My faith in humanity has been completely restored by the unfailing support we have received. I’ve been so proud of Zach as figurehead of the Epilepsy Society’s campaign to make the law on this barbaric behavior fit for the 21st century.”

“I could not be prouder of what Zach has achieved. For the past three and a half years, he has been spearheading the Zach’s Law campaign run by the Epilepsy Society to bring these trolls to justice.

“He has taken time out of school to meet with politicians, policymakers and the media. He has taken on the internet trolls and won.”

The law is a world first for people with epilepsy as unsuspecting people with epilepsy may be impacted through the ongoing work from the Zach’s Law campaign. President of Epilepsy Australia Wendy Groot commended Zach and his mother for their efforts.

“We are fully in favor of laws that protect the rights and well-being of people with epilepsy,” Ms Groot said.

“While this type of behavior has not been an issue here in Australia, as far as I am aware, we abhor the deliberate nature of it and applaud Claire Keer and her son Zach for the work they did to change the law in the UK to fight against it.”

Generally, photosensitive epilepsy is rare in the use of computer monitors and those with a sensitivity to screen flicker should seek a screen filter. Only in exceptional cases would it be necessary to restrict computer work.

High-quality monitors, liquid crystal or LCD screens with a flicker (refresh) rate of at least 60Hz may not pose a problem, according to Epilepsy Australia. The risk, for people with epilepsy, is more likely to be the images on the screen that trigger a seizure — such as in concerted harassment campaigns.

 

Source: disabilitysupportguide.com.au, David McManus

Disturbing graffiti fueling epilepsy stigmatization

Disturbing graffiti fueling epilepsy stigmatization

The Caristas Malta Epilepsy Association expressed profound concern regarding recent incidents involving graffiti that associate epilepsy with monetary symbols.

Such actions significantly contribute to the existing stigmatization that individuals living with epilepsy confront daily. The graffiti emerged after a news story revealed that hundreds of individuals were illicitly receiving social security benefits claiming to have disability. Some 141 have so far been ordered by the courts to return the funds that they were not entitled to, for a total of €2.1 million.

Epilepsy is a neurological condition that affects 1% of the Maltese population, the Caritas Association said.

While the majority of people with epilepsy are capable of leading normal lives, it is crucial to acknowledge the challenges, including psychological ones, that accompany this condition. Individuals living with epilepsy face genuine and often debilitating obstacles that warrant support and understanding from society. The emergence of graffiti connecting epilepsy to monetary symbols is deeply troubling.

This graffiti not only distorts the reality of epilepsy but also perpetuates harmful stereotypes, wrongly insinuating that individuals with epilepsy seek financial gain at the expense of others. Such portrayals are not only false but also deeply hurtful to those who grapple with this condition. Epilepsy, like any other chronic medical condition, deserves to be met with compassion, empathy, and support from our community.

Stigmatization only serves to isolate those who require assistance the most and discourages them from seeking the medical and emotional support they need. We implore community leaders, local authorities, and citizens to unite in addressing this issue. It is imperative to cultivate an inclusive and understanding environment for individuals living with epilepsy, enabling them to access the resources they genuinely require without fear of judgment or discrimination.

We firmly believe that such discriminatory and harmful actions must be treated seriously by the authorities. Preserving the cherished right to freedom of speech should always be accompanied by a commitment to sensitivity and respect, especially when it comes to avoiding the mocking of individuals with disabilities. Together, we can forge a more inclusive and empathetic society that benefits everyone

 

Source: independent.com.mt

Flexible thin-film neural electrodes show promise for the diagnosis and treatment of epilepsy

Flexible thin-film neural electrodes show promise for the diagnosis and treatment of epilepsy

Flexible thin-film electrodes placed directly on brain tissue show promise for the diagnosis and treatment of epilepsy, as demonstrated recently by scientists at Tokyo Tech. Thanks to an innovative yet straightforward design, these durable electrodes accurately match the mechanical properties of brain tissue, leading to better performance during electrocorticography recordings and targeted neural stimulation.

Measuring brain activity is a useful technique for diagnosing epilepsy and other neuropsychiatric disorders. Among the several approaches adopted, electroencephalography (EEG) is the least invasive. During EEG recordings, electrodes are typically placed on the scalp. However, this limits the resolution of EEG as the electrical signals from the brain are attenuated and distorted by the time they reach the scalp.

In contrast, electrocorticography (ECoG) involves placement of neural electrodes directly on the surface of the brain. Being in close contact with the region of interest, ECoG electrodes provide better recordings of brain activity. Moreover, it is also possible to send electrical pulses through them to stimulate specific groups of neurons with the aim of managing epileptic seizures. However, conventional ECoG electrodes have a major drawback. They usually do not match the mechanical properties and curvature of brain tissue, resulting in increased brain pressure and other adverse effects. Although soft neural electrodes have been developed to mitigate this issue, they either lack durability and strength or require complex fabrication processes.

To address these problems, a research team guided by Associate Professor Toshinori Fujie of Tokyo Institute of Technology (Tokyo Tech) has developed a new type of flexible neural electrode. Their design and findings, recently published in Advanced Materials Technologies, can revolutionize how ECoG recordings and direct neural stimulation are performed.

The substrate of the proposed electrode consists of a thin film made of a flexible material called polystyrene-block-polybutadiene-block-polystyrene (SBS). The researchers used an inkjet printer to fabricate conductive wiring on the electrode with gold nanoink. Finally, they covered the circuit by stacking another SBS layer as insulation, with laser-perforated microchannels as measurement or stimulation points.

Through extensive mechanical testing and simulations, the researchers demonstrated that the electrode accurately conforms to the shape of brain tissue containing many irregular ridges. Its straightforward design and fabrication process is a major advantage as well, since it is conducive to the widespread adoption of the proposed electrode in practical applications.

As far as we know, this is the first study to demonstrate such ultra-conformable ECoG electrodes based on printed electronics, which closely match the mechanical properties of brain tissue.”

Dr. Toshinori Fujie, Associate Professor, Tokyo Institute of Technology

To showcase the potential of their design, the team conducted several experiments on epilepsy rat models. Using the newly designed ECoG electrodes, they could accurately measure the neural response in the brains of these rats when one of their whiskers was mechanically stimulated. Additionally, they could visualize seizure activity during a chemically-induced epilepsy. Further, by triggering movement in the rats’ whiskers and arms via electric pulses sent through specific channels, the researchers demonstrated that the proposed electrodes can stimulate different regions of the brain.

Overall, these findings highlight the potential of flexible thin-film neural electrodes for the diagnosis and treatment of epilepsy and other brain diseases. Notably, the electrodes did not cause any inflammation or adverse effects in the rats’ brains even several weeks after the procedure, highlighting their compatibility with biological tissue.

The researchers plan on improving their design further to make it suitable for clinical applications. “The integration of our thin-film electrode with an implantable device could make it even less invasive and more sensitive to the brain’s abnormal electrical activity,” explains Dr. Fujie. “This would enable improved diagnostics and therapeutic strategies for the management of intractable epilepsy.”

And we sure hope his visions are realized soon!

 

Source: news-medical.net, Lily Ramsey, LLM

Florida legislators must ensure patient Rx affordability | Opinion

Florida legislators must ensure patient Rx affordability | Opinion

My daughter and I are two of more than 220,000 Floridians living with epilepsy, and I’ve served as a resource to our local epilepsy community helping to wade through the red tape to ensure people receive the medicine they need to have the best quality of life. What many people might not know is that  up to 70% of people living with epilepsy can become seizure-free with access to antiseizure medicines and an often extensive trial-and-error process to find the medications that work best for each person.

Unfortunately, anti-patient policies practiced by health insurance companies and health care middlemen known as pharmacy benefit managers (PBMs) impose unnecessary access and affordability barriers for epilepsy patients – things like fail first or step therapy requirement, prior authorization, and pocketing billions in discounts without passing savings onto patients.

Many patients benefit from copay coupons and copay assistance, which often come in the form of discounts from drug manufacturers and charitable organizations to help patients afford their medicine. But for patients whose  insurance plans contain a copay accumulator which according to studies, more than 90% do, insurers and PBMs don’t  count the assistance towards a patients deductible – forcing the patient to pay additional expenses out of their own pocket, even though the insurer has already received payment from another source.

In other words, insurance companies and PBMs have created a pathway to double dip from the pockets of patients.

For example, my daughter takes a single antiseizure medicine, which significantly reduces seizures. However, this medicine alone, which she has been using successfully for more than a decade, costs almost $1,500 a month. If we used a $1,000 copay coupon from the drug manufacturer, we would only pay $500 at the counter. But, on a plan with a copay accumulator, only $500 would count toward our health insurance deductible/out-of-pocket maximum – even though the insurer and PBM received a total of $1,500 each month.

As someone who has spent years navigating the system from my volunteer work with the Epilepsy Agency of the Big Bend and previous career at the Florida Department of Health, this is an issue with an easy fix that would have a substantial impact on patients. Copay accumulator programs dramatically diminish patients’ ability to reach their deductibles/out-of-pocket maximums, and greatly impact patients living with inherited chronic conditions such as epilepsy, cystic fibrosis, hemophilia etc.

I’m encouraged by the dialogue at both the federal and state-levels to address affordability while ensuring access and innovation, but we must start by directly lowering out-of-pocket costs for patients.  Here in Florida, State Senator Tom Wright introduced Senate Bill 46 for the 2023 Legislation Session to end copay accumulator programs as 16 states nationwide review similar legislation to ensure that copay assistance – regardless of its form – is contributed toward patient’s deductibles/out-of-pocket maximums.

Please join me in encouraging our state and federal lawmakers to support patient-first policies like Senate Bill 46 in Florida, and the HELP Copays Act in Congress, to make life saving medicine accessible and affordable to Florida’s patients.

Nicole Hill is a patient advocate and volunteer with the Epilepsy Association of the Big Bend. 

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Source: tallahassee.com, Nicole Hill

Blood test could help diagnose epilepsy

Blood test could help diagnose epilepsy

A blood test could help identify epilepsy, according to new research from scientists at Lund University in Sweden.

Matilda Ahl and colleagues published their research in Heliyon in March, in which they found that there are higher rates of a protein called IL-6 in the blood in people with epilepsy.

The researchers investigated 56 people with epilepsy, split into four groups: those with temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), psychogenic non-epileptic seizures (PNES), and combined TLE and PNES.

The scientists confirmed patients’ seizures using video EEG and knew if they were taking blood samples before or after seizures.

The study found that levels of IL-6 in the blood were higher in people with FLE and TLE, including in the group of people who had both TLE and PNES, compared to people without epilepsy or PNES. After a seizure, the levels of the protein increased even more in people with TLE, but not in people with FLE.

The results also showed that the IL-6 levels were not increased in people with PNES.

Marie Taylor, part of the research team, said that investigating whether someone has epilepsy or PNES takes a lot of resource. She said: “It may require the patient to be admitted to hospital for several days with constant video and EEG surveillance, with medical staff on hand around the clock. It is hard on the patient that it takes time to reach a diagnosis.”

The researchers said the next step is to repeat the research in a broader group of people, including both adults and children.

 

Source: epilepsy.org.uk,

Super-Refractory Status Epilepticus Linked With Unknown Etiologies, High Mortality Rates

Super-Refractory Status Epilepticus Linked With Unknown Etiologies, High Mortality Rates

In a meta-analysis understanding the differences of super-refractory status epilepticus (SRSE), findings showed that patients with SRSE had more often acute or unknown etiologies, and that established prognostic factors for first-time overall SE did not reliably predict in-hospital mortality in patients with SRSE. While treatment was successful in stopping seizures for most patients, the risk of death or severe disability at discharge was high, with an in-hospital mortality rate of 24.1%.

To assess clinical characteristics, causes, outcomes, prognostic factors, and treatment approaches for patients with SRSE, investigators pulled 95 articles and 30 conference abstracts that included 1200 patients with nonanoxic SRSE. Senior investigator Christoph P. Beier, medical specialist in neurology at the University of Southern Denmark, and colleagues included all studies of patients diagnosed with SRSE, which was defined as SE that continues or recurs 24 hours or more after the onset of anesthetic therapy, including cases where SE recurs on reduction or after withdrawal of anesthesia.

Aside from the high in-hospital mortality, 81.3% of all patients had their SRSE successfully ceased through treatment. Of all patients analyzed in the meta-analysis, 26.8% were discharged from the hospital with no or minor to moderate disability. The remainder were either dead or severely disabled at discharge. Notably, the rate of successful seizure termination continued to rise with increasing duration; however, the proportion of patients with substantial disability defined as a modified Rankin Scale (mRS) score of 3 to 5 also increased substantially with longer duration of SRSE.

“Patients with reported SRSE differed significantly from unselected patients with first-time overall SE,” Beier et al wrote. “The treating physicians may have prioritized patients with an expected more favorable overall prognosis and unknown diagnoses and avoided treatment with poorer prospects, eg, patients with brain tumors or more fragile, older patients. This may explain why established prognostic factors for in-hospital mortality, such as age and etiology, did not apply for SRSE.”

The investigators continued, “The plateau in mortality after 28 days of treatment might be due to a combination of survival of the most robust patients and the reluctance of the treating physicians to terminate treatment once they had decided to continue treatment for more than 1 month (effort justification bias). The continuously increasing rate of seizure cessation after 28 days of treatment probably results from a combination of genuine treatment successes, reporting bias, and, conceivably, substantial brain damage destroying the epileptic focus after many weeks of continuous seizures.”

Patients with SRSE had a distinct pattern of etiologies where acute cerebral events and unknown etiologies accounted for 41.6% and 22.3% of all etiologies, respectively. While there were only slight differences between patients with SRSE in the meta-analysis and those in larger cohort studies, investigators observed substantial differences between patients in the meta-analysis and those with first-time overall SE from a historical, retrospective, unselected cohort.

In an analysis of clinical characteristics of patients with SRSE according to their outcome, findings showed that favorable functional outcome was associated with younger age and lower number of ASMs tried but not duration of SE. In addition, the status epilepticus severity score was not consistently associated with in-hospital mortality (nonsignificant for a cutoff of 3), and there were insufficient data for the analysis of other prognostic scores.

Additional findings from the meta-analysis revealed that half (50%) of the cohort tried between 3 to 6 antiseizure medications (ASMs), with levetiracetam, valproic acid, phenytoin, and lacosamide as the most frequently used. The number of ASMs reported was associated with higher disability at discharge but not with reduced in-hospital mortality or higher rates of treatment success. Investigators also found no data indicating altered outcomes after treatment with barbiturates, ketamine, vagus nerve stimulator, or ketogenic diet.

 

Source: neurologylive.com, Marco Meglio, Christoph P. Beier

Diagnosing, treating and managing epilepsy

Diagnosing, treating and managing epilepsy

It’s estimated that about 3.4 million people in the United States have active epilepsy, and that about 1 in 26 people will develop epilepsy at some point in their lifetime. That’s why it’s important to understand the condition, including treatment and management options, and when to seek medical care for yourself or someone else.

What is epilepsy?

Epilepsy is a brain disorder that causes recurring, unprovoked seizures. A person may be diagnosed with epilepsy if they have two unprovoked seizures or one unprovoked seizure with a high risk of more. Not all seizures are the result of epilepsy. For example, some people may have seizures due to their blood glucose being too low or their sodium being off. The word “epilepsy” simply means “seizure disorder.” It does not tell us anything about the cause of a person’s seizures or their severity.

What are the common presentations of an epileptic seizure?

Seizures themselves can have different appearances or physical manifestations, depending on which parts of the brain are being affected during the event. This can include temporary confusion, episodes of staring blankly, uncontrollable jerking movements or twitching, loss of consciousness or awareness, psychological symptoms like fear or anxiety, intense feelings of euphoria or unconsciously performing actions.

What happens in a seizure may look different from one person to another. However, seizures are usually stereotypic, which means the same things or behaviors tend to occur in a person each time they have a seizure. The seizure behavior may be inappropriate for the time and place, but it is unlikely to cause harm to anyone.

Are there any risk factors or trends for epilepsy?

Seizures may relate to a brain injury or a family trait, but often the cause is completely unknown. Risk factors for epilepsy include febrile seizures as an infant/child, family history, history of meningitis/encephalitis, traumatic brain injuries, CNS malignancy, history of stroke or other structural brain lesions.

Some things that can be associated with people who have epilepsy include depression, anxiety and cognitive symptoms/poor memory.

How does epilepsy typically present and at what age?

Anyone can develop epilepsy at any age. In fact, seizures start for the first time in people over age 65 almost as often as they do in children. The most common ages to develop epilepsy are very young children and geriatric patients. Seizures in the elderly are often the after-effect of other health problems such as a stroke or brain tumor.

If someone has a seizure, is this a clear indicator of epilepsy?

People who have recurrent, unprovoked seizures meet the diagnosis of epilepsy. However, people can have seizures that are due to a provoking cause such as low blood glucose, sodium levels being off, alcohol withdrawal, etc.

Some people have events that can appear from the outside to look a lot like epilepsy but may be due to underlying stress or anxiety, such as shaking or convulsing that is not actually related to an epileptic seizure. Other people have conditions that make them prone to fainting and convulsing, but this is not considered a seizure.

How is the condition diagnosed?

A diagnosis of epilepsy is generally made by a neurologist after taking a careful history and examination of the patient. If others have witnessed an epileptic event or taken a video of an epileptic event, reviewing this information with the provider can be helpful in making a diagnosis.

Certain tests can also be performed to provide more information, such as an MRI of the brain to look for structural changes as well as an EEG, which is a recording of the brain’s electrical activity that can sometimes show abnormal discharges and give us a clue that a patient may be at risk for seizures and which part of the brain the seizures may be coming from.

What treatment options are available?

There are many different medications available to treat epilepsy, as well as surgical options and neuromodulation that is used to alter nerve activity to help with seizures. Although many people can receive treatment for their epilepsy, treatments do not work for all patients.

Some patients with refractory epilepsy may benefit from a strict ketogenic diet. In general, staying well-hydrated, trying to avoid getting sick, sleeping well and managing stress are all lifestyle modifications that can help reduce seizures (or reduce the risk of breakthrough seizures). Although beneficial, these measures should not replace anti-seizure medications.

 

When should someone seek medical attention?

If someone without a history of seizures or epilepsy has a seizure, they should be evaluated for epilepsy.

Patients with epilepsy should also seek medical attention if they have a prolonged seizure lasting more than five minutes or have a cluster of seizures in the same day without returning to normal in-between their seizures.

What should someone do if they witness an epileptic seizure?

If you are with someone who appears to be having an epileptic seizure, it’s important to remember this saying: STAY. SAFE. SIDE.

  • STAY. Stay with the person and start timing the seizure. Stay with them until they are awake and alert after the seizure.
  • SAFE. Keep the person safe. Do not put anything in their mouth and do not restrain them.
  • SIDE. If they are not awake and aware, turn the person on their side.

Call 911 if the person has:

  • A seizure that lasts longer than five minutes
  • Repeated seizures
  • Difficulty breathing
  • A seizure in water
  • A seizure while injured, sick or pregnant
  • A seizure for the first time

If the person does not return to their usual state or is asking for medical help, call 911.

Is epilepsy fatal?

While it doesn’t happen frequently, epilepsy is a very serious condition that can lead to death. The most common cause of death is sudden unexpected death in epilepsy (SUDEP). While there is a lot we still don’t know about SUDEP, experts estimate that 1 out of every 1,000 people with epilepsy die from SUDEP each year.

People can also die from prolonged seizures, with 1.9% of deaths in people with epilepsy due to this type of seizure emergency. This is one of the reasons why it is important to try to get seizures under the best control possible.

If you have questions or concerns about epilepsy, reach out to your healthcare provider for more information.

 

Source: parkview.com, Eric Kimmel MD

Patients With Epilepsy and PTSD Show Executive Attentional Overcontrol

Patients With Epilepsy and PTSD Show Executive Attentional Overcontrol

Patients with epilepsy with PTSD symptoms experienced changes in executive attentional control, weakened emotional inhibition, and improved seizure control perception.

Individuals with epilepsy that have posttraumatic stress disorder (PTSD) display overcontrol of executive attention and have difficulties with emotional inhibition, according to study findings published in the journal Epilepsy & Behavior.

The effects of PTSD on patients with epilepsy are not well understood. Previous studies have shown that PTSD can impair executive functions and memory. Researchers conducted a study to assess the cognitive effects in patients with drug-resistant epilepsy (DRE) who display signs of PTSD.

The study group consisted of 54 patients aged 18 to 54 with DRE, including 27 men and 27 women participants. The control group had 61 participants without long-term illness or psychiatric symptoms, including 43 women and 18 men participants.

All participants answered a questionnaire and performed the Attention Network Test (ANT) tasks to determine executive attentional control. Emotional inhibition was tested using the Go/No-Go task.

Patients with epilepsy presenting PTSD symptoms seem to be characterized by attentional overcontrol and difficulties with emotional inhibition (towards anger-related stimuli).

The researchers used the Post-traumatic Stress Disorder Diagnosis Scale for DSM-5 (PDS-5) to assess PTSD symptoms. After completing the questionnaire, participants were interviewed by a psychologist according to the DSM-5 international guidelines.

Compared with the control group, there were lower attentional executive control scores among participants with epilepsy. When evaluating groups with and without PTSD, however, compared with participants without PTSD, those with PTSD had improved executive attentional control.

Compared with the control group, participants with PTSD also reported better executive attentional control, but the results were insignificant.

When analyzing all participants with epilepsy, the researchers reported a negative correlation between PDS-5 score and attentional executive control. There was a positive relationship between PDS-5 and ANT task performances.

Errors in behavioral inhibition correlated with the severity of PTSD scores. Emotional bias measured using response times showed a negative correlation with hypervigilance.

Participants with more PTSD symptoms showed a faster response reaction time in an aversive condition in the Go/No-Go task.

There were no major differences reported between patients with and without PTSD for anxiety or depression.

There was a positive correlation reported for seizure anticipation among participants with more PTSD symptoms and those who were more alert. Compared with participants without PTSD, those with PTSD symptoms showed improved seizure control.

The researchers wrote, “Patients with epilepsy presenting PTSD symptoms seem to be characterized by attentional overcontrol and difficulties with emotional inhibition (towards anger-related stimuli).”

“These cognitive responses may be associated with hyperactive traumatic memory, which may promote difficulty in managing the threat of re-exposure to traumatic stimuli during inter- and peri-ictal period (epilepsy-specific PTSD symptoms),” they noted. “This cognitive profile could be explained by the maintenance of PTSD symptoms associated with fear and anxiety of seizure occurrence.”

Study limitations included the lack of formal validation of the questionnaires created and the differences and age and gender ratios between study groups.

 

Source: neurologyadvisor.com, Allison Nguyen

New study says sleep loss can damage your brain; experts weigh in

New study says sleep loss can damage your brain; experts weigh in

Altered sleep patterns can lead to addiction and substance abuse. All these can make one more susceptible to cardiac ailments and strokes, said Dr Shobha N, consultant neurologist and stroke physician, Manipal Hospital, Malleshwaram, Bangalore

Lack of sleep not only affects your mood but also impacts your brain health, a new study indicates. A study, published in the American Chemical Society’s Journal of Proteome Research, noted that a protective protein‘s level in the brain declines with sleep deprivation, leading to neuronal death. The mice study claimed that there was “neurological damage in the hippocampus, a part of the brain involved in learning and memory”.

As part of the research, the authors evaluated how well mice navigated a simple maze and learned to recognize new objects after having been sleep-deprived for two days. “They then extracted the proteins in the animals’ hippocampi and identified those whose abundance changed. Then, to further narrow the possibilities, they looked at data linking these proteins to maze performance in related strains of mice that had not experienced sleep deprivation,” it read.

Experts elucidate that sleep deprivation leads to various effects on brain functioning — some of them are short term and some of them are long-lasting. “Lack of sleep can lead to reduced attention and concentration. Memory consolidation happens in sleep, so storage and retrieval of memory are affected. Sleep loss can lead to impaired decision-making and lack of emotional control. Accidents can happen due to impaired judgment while driving,” said Dr Shobha N, consultant neurologist and stroke physician, Manipal Hospital, Malleshwaram, Bangalore.

Concurred Dr Kunal Bahrani, director, neurology, Fortis Escorts Hospital Faridabad, and shared that sleep helps your brain store and organize information. “Sleep problems can also make you feel sad or worried. Not getting enough sleep can increase your chances of feeling depressed or anxious. Sleep is essential for keeping your emotions in check,” said Dr Bahrani.

According to Dr Shobha, the worsening of pre-existing neurologic conditions like migraine and epilepsy is known. “Shortage of sleep can lead to mental health issues like anxiety and depression. Long-term sleep deprivation can have physical consequences in addition. The person will be prone to chronic inflammatory neurologic and systemic diseases. It can lead to other chronic diseases like hypertension, diabetes mellitus, and dyslipidemia. Altered sleep patterns can lead to addiction and substance abuse. All these can make one more susceptible to cardiac ailments and strokes,” noted Dr Shobha.

Neurologists have observed that during deep sleep, the brain performs essential functions, such as clearing out waste products and harmful proteins that accumulate throughout the day, said Dr Vinit Banga, associate director, neurology and head -Neurovascular Intervention Centre for Neuroscience, BLK Max Super Specialty Hospital. “Without proper sleep, this clearance process is impaired, potentially contributing to the development of neurodegenerative conditions,” said Dr Banga.

Sleep deficiency can cause neurodegenerative diseases like dementia and Parkinson’s disease. In a nutshell, a dearth of sleep can have a bearing on neuronal plasticity and pave the way to various neurologic and systemic diseases, added Dr Shobha.

Your decision-making and problem-solving abilities can suffer, too. “When you’re sleep-deprived, you might make quick decisions without thinking much, and it can be hard to adapt to new situations,” added Dr Bahrani.

If you grapple with sleep deprivation, you must recognize the warning signs and seek assistance. “Several proactive steps can enhance sleep quality, such as establishing a consistent sleep schedule, cultivating a calming bedtime routine, and refraining from caffeine and alcohol before retiring,” said Dr Bhakti Gajjar, Neuro Physician, HCG Hospitals, Ahmedabad.

 

Source: indianexpress.com

Navigating Epileptic Lesions within the Complex Human Brain Network

Navigating Epileptic Lesions within the Complex Human Brain Network

Brain regions map lesions associated with epilepsy, guiding interventions, and unclear causes of epilepsy. Researchers conducted a retrospective study and mapped epilepsy-associated lesion locations to specific brain regions and networks, revealing the potential for targeted treatments.

They utilized lesion location and network mapping to pinpoint brain regions and networks linked to epilepsy. Patients with post-stroke epilepsy and stroke controls were included in the dataset. Validation involved 4 independent cohorts, 347 patients with epilepsy and 1,126 without, across all datasets. The therapeutic potential was assessed using deep brain stimulation sites for seizure control. The primary outcomes and measures were categorized as either epilepsy or no epilepsy.

The results showed post-stroke epilepsy patients (76 individuals, 39 male [51%], mean age 61.0 [SD 14.6] years, mean follow-up 6.7 [SD 2.0] years) and stroke control patients (625 individuals, 366 male [59%], mean age 62.0 [SD 14.1] years, follow-up range 3-12 months), lesion locations associated with epilepsy were found across various brain regions. These sites were connected to a brain network with basal ganglia and cerebellum links. Validation across 4 cohorts (772 patients, 271 [35%] with epilepsy, median age 60 [IQR 50-70] years, follow-up 3-35 years) confirmed higher epilepsy risk for network-connected lesions, regardless of lesion type. In 30 drug-resistant epilepsy patients (21 male [70%], median age 39 [IQR 32-46] years, median follow-up 24 [IQR 16-30] months), deep brain stimulation targeting this network improved seizure control.

They concluded the study identifies epilepsy risk after brain lesions through brain network mapping and guiding stimulation therapies.

 

Source: physiciansweekly.com

Rapid Genome Sequencing in Infants With Epilepsy Shows Immediate Benefit

Rapid Genome Sequencing in Infants With Epilepsy Shows Immediate Benefit

— Pilot study suggests early testing for seizures, regardless of treatment setting

The first study to examine rapid whole-genome sequencing in an epilepsy cohort showed high diagnostic yield and clinical utility among infants with new-onset epilepsy.

In the Gene-STEPS study, 43 of 100 infants received a molecular genetic diagnosis. All participants with a genetic diagnosis received the immediate benefit of risk recurrence counseling.

The genetic diagnosis informed treatment decisions in more than half (56%) of the group. Two-thirds (65%) received additional evaluation, while 86% received a more informed prognosis from their medical team focusing on the likelihood of intellectual disability. Eight infants avoided further testing, and two infants were redirected to palliative care.

In some cases, genetic diagnosis suggested a relatively good prognosis, including a high likelihood of weaning anti-seizure drugs and normal development.

Patients’ median age at rapid genome sequencing was 172 days, and the test results came in a median of 37 days from seizure onset, reported Amy McTague, MBChB, PhD, of the University College London in England, and co-authors.

“Our findings provide support to prompt the use of state-of-the-art rapid genomic testing to facilitate early etiological diagnosis that can inform urgent targeted management in this vulnerable population,” the researchers wrote in Lancet Neurology.

More than 800 genes are implicated in infantile epilepsies, and many infantile epilepsies have similar symptoms. Unlike targeted genetic testing to confirm a suspected diagnosis, rapid genome sequencing looks for changes in DNA that might explain symptoms, analyzing the entire genome.

In the prospective pilot study of the International Precision Child Health Partnership, researchers recruited patients from the consortium’s four-member tertiary care centers in Australia, Canada, the U.K. and the U.S. and collected blood from patients and available biological parents.

One hundred infants with new-onset epilepsy were enrolled from September 2021 through August 2022; 41 were girls and 59 were boys. The researchers performed trio genome sequencing when both parents were available, and gleaned clinical data from medical records, parents, and treating clinicians.

Importantly, 83 patients were recruited from non-intensive care settings, with 43 coming from regular inpatient units, and 40 coming from outpatient settings. Only 17 patients were referred from intensive care units (ICUs).

ICUs, however, had the highest association with a genetic diagnosis: 12 of 17 (71%) patients from the ICU received a genetic diagnosis, compared with 19 of 43 (44%) from regular inpatient units and 12 of 40 (28%) from outpatient settings.

The study “supports the notion that patients with genetic epilepsies not only present to intensive care units, albeit being most commonly treated there, but also might present to outpatient clinics. Thus, genetic testing should not be limited to intensive care settings only,” observed Katrine Johannesen, MD, PhD, and Rikke Møller, PhD, MSc, of the Danish Epilepsy Center in Copenhagen, in an accompanying editorial.

Study data showed that a genetic diagnosis was most likely in infants with neonatal-onset seizures, previous developmental delay, and abnormal head size. The diagnostic yield also varied by epilepsy syndrome, with the highest yield in those with self-limited epilepsy (13 of 15 patients; 87%) followed by infants with developmental and epileptic encephalopathies (18 of 51 patients; 35%).

The researchers traced the genetic cases of epilepsy to 34 unique genes or genomic regions; only seven genes appeared in more than one patient.

The study has implications beyond the individual patient, McTague and co-authors pointed out. For example, 12 of 43 patients (28%) received genetic diagnoses that had health implications for parents or led to additional family members being referred for genetic testing.

McTague and co-authors were careful to note that rapid genome sequencing can present some challenges to families, especially as the technology is used today. “Early genetic diagnosis and awareness of future prognosis might contribute to diagnostic shock and parental stress,” they wrote. “Precise prognostication is not always possible early on, and this uncertainty is very challenging for families.”

The research had several limitations, the researchers acknowledged, including its short follow-up time.

Long-term follow-up would be of interest because it would help identify whether these children fare better than those with a late genetic diagnosis, the editorialists noted. Despite its limitations, Gene-STEPS reinforces the benefits of rapid genome sequencing for infants with epilepsy, Johannesen and Møller added.

“Although physicians might currently be able to treat the epilepsy (e.g., with sodium channel blockers for gain-of-function mutations in genes encoding voltage-gated sodium channels), the ability to treat the accompanying developmental delay or intellectual disability, movement disorder, or behavioral issues is still limited,” they wrote.

“As such, as the field moves towards treatments that target the underlying genetic cause, a rapid diagnosis will become increasingly important to counteract the potentially irreversible damage.”

 

Resource: medpagetoday.com, Darcy Lewis

Cork-based researchers’ breakthrough could reduce seizures for those with epilepsy

Cork-based researchers’ breakthrough could reduce seizures for those with epilepsy

Researchers in Ireland have announced a technology breakthrough that will help people with drug-resistant epilepsy.

The team at IPIC, the SFI Research Centre for Photonics at the Tyndall National Institute at UCC in Cork, has partnered with Belgium-based preclinical medical device company, Synergia Medical, to develop new technology that could significantly reduce seizures for people with drug-resistant epilepsy.

Their use of photonics has helped create a metal-free neurostimulator that replaces electrically-conducting wires with non-conductive optical fibers to stimulate the vagus nerve — a nerve that originates deep in the brain.

Vagus nerve stimulation applies electrical current pulses to the nerve like a pacemaker does to the heart. This stimulation can reduce and stop epileptic seizures, and improve patients’ quality of life and health outcomes.

It represents a major breakthrough in the treatment of epilepsy because it can be used in MRI systems, which allow for the individual tailoring of the neuro-stimulation treatment.

According to Epilepsy Ireland, more than 40,000 people here are affected by epilepsy, and a third of them have drug-resistant epilepsy. Seizures can have a devastating impact on people’s lives, affecting their work, education, and social life.

But this use of photonics could also be used in other therapeutic applications including depression and anxiety, while research is ongoing into vagus nerve stimulations to help treat chronic pain, Parkinson’s disease and Alzheimer’s.

Principal investigator at IPIC, Brian Corbett, said the breakthrough again positions Ireland as a center for research excellence in the field of optical powering for medical devices.

He explained: “The science behind the technology is an optical ‘power lead’ utilizing an efficient miniaturized photovoltaic cell subsystem that enables light to be transmitted from a neurostimulator embedded in the body to an electrode, which converts the light to electricity that then powers the electrode.

“This replaces metal cables and thereby makes the system MRI compatible.”

‘Positive impact’

Tyndall CEO, Professor William Scanlon, said they are very proud of the IPIC team’s work.

“Epilepsy is a condition that affects many families across Ireland,” he said. “A member of my own household lives with drug-resistant epilepsy, and so I am acutely aware of the need for new approaches to reducing seizures.

“This technology has the potential to reduce, and in some cases stop, epileptic seizures, which will make an enormously positive impact on the lives of those who suffer from epilepsy, and for their families too.”

Last January, Synergia Medical secured an additional €3.8m in funding, bringing the total to €12.8m, to allow it prepare for the first-in-human clinical trials of this technology in 2024.

 

Source: irishexaminer.com, Eoin English

Holistic Health: Six Proven Benefits You Should Know

Holistic Health: Six Proven Benefits You Should Know

Cannabidiol, or CBD as it’s often known, is a compound found in marijuana. CBD is extracted from the plant and does not contain tetrahydrocannabinol, or THC, which is the psychoactive ingredient that gives users a “high” feeling. CBD users have the option to ingest, smoke, or even apply CBD topically for medical purposes.

CBD use is on the rise, and more and more reputable, peer-reviewed research has been developed to show how useful the compound can be. A growing number of states and localities have decriminalized and even legalized the use of the compound based on this research. Read on to see six of the top medicinal uses for CBD and the benefits it can provide based on evidence.

1- Anxiety and Mood Disorders

Several studies in recent years have shown that CBD helps with mood regulation in both humans and animals. This regulation of mood helps to reduce anxiety and can even lower the effects of depression, PTSD, and other mental health conditions.

2- Pain Management

Continued research finds that CBD can significantly lower chronic pain symptoms in non-cancer patients. It is thought that CBD interacts with receptors in the endocannabinoid system to reduce pain perception. This makes CBD a good fit for managing chronic pain in those who have exhausted other medications or wish to not grow dependent on things such as opioids.

3- Help With Sleep

Many CBD users report getting a better night’s sleep while using the beneficial compound. This is likely due to the relaxing effect CBD has on your nervous system and goes hand in hand with the use of the product for anxiety and pain symptoms.

4- Epilepsy

One of the most common and original uses of CBD is to treat epilepsy symptoms and seizure disorders, especially when conventional medications do not help. This use dates back many years and was instrumental in starting research into CBD and its benefits. In fact, there is an epilepsy medication that has FDA clearance which contains CBD to assist in decreasing seizures.

5- Anti-Inflammatory

CBD is thought to have anti-inflammatory properties, based on research. This fact supports the use of the compound in treating conditions such as arthritis and some autoimmune diseases.

6- Treat Opioid Addiction

In clinical studies, it has been found that CBD can significantly reduce a heroin user’s cravings, withdrawal anxiety, resting heart rate, and salivary cortisol levels. These same studies found no adverse effects to using CBD to control opioid addiction.

Other studies have found that CBD is helpful in reducing drug withdrawal symptoms such as anxiety, insomnia, and pain. Research shows a clear agreement that CBD use is much more beneficial and less dangerous than opioid use.

With further research, scientists and medical professionals may be able to provide more beneficial uses for CBD products. As the research expands, more and more patients may gain access to these products. Head on over and check out the wide range of CBD-infused products and start getting your life back from pain, anxiety, and other conditions.

 

Source: thehackpost.com, Sofia Peterson

New areas of DNA bring hope for epilepsy

New areas of DNA bring hope for epilepsy

The Epilepsy Society is proud to be part of ground-breaking research which has revealed 26 potential new sites for epilepsy in our DNA, including 19 which are thought to be linked to Genetic Generalized Epilepsy. Additionally, the research has identified 29 genes which are thought to contribute to the development of epilepsy in these areas of the brain.

The research is the largest study of its kind and was carried out by the International League Against Epilepsy Consortium, including Epilepsy Society’s Professors Ley Sander and Sanjay Sisodiya, Simona Balestrini and Krishna Chintapalli.

The study looked at the DNA of almost 30,000 people with epilepsy and 50,000 who do not have the condition. It is hoped that the discovery will lead to new and better treatments to control seizures. Researchers will also be looking at existing medications which are already used for other conditions but which may also be used for targeting epilepsy genes.

Professor Ley Sander, Medical Director at the Epilepsy Society, said: “This is very exciting progress. It is an unprecedented collaboration involving researchers across Europe, Australia, Asia and North and South America and demonstrates just what can be achieved by sharing big datasets from across the world. The research will undoubtedly help us to break down the complexities of epilepsy and lead to better treatments in the future for people with epilepsy.

“These moments in research are always very exciting, but the milestone moment for me is when that research is translated into new treatments and, for the first time, someone who has been living with uncontrolled seizures, can finally get on with their life, seizure free. That is the moment we celebrate.”

 

Source: epilepsysociety.org.uk, Nicola Swanborough

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