Epilepsy – Kepplah http://kepplah.com/ Mon, 21 Nov 2022 15:21:05 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://kepplah.com/wp-content/uploads/2021/05/kepplah-150x150.png Epilepsy – Kepplah http://kepplah.com/ 32 32 CBD emerges as a meaningful therapy for epilepsy, but considerable questions remain https://kepplah.com/cbd-emerges-as-a-meaningful-therapy-for-epilepsy-but-considerable-questions-remain/ Mon, 21 Nov 2022 15:21:05 +0000 https://kepplah.com/cbd-emerges-as-a-meaningful-therapy-for-epilepsy-but-considerable-questions-remain/ Investigators still don’t fully understand how cannabidiol (CBD) works in patients with seizures, according to a new review.

Cannabidiol (CBD) may be a meaningful therapy for children and adults with certain types of seizure disorders, but there remain a series of important questions related to how the drug works and how best to use it, according to a new report. summary article.

The review, published in Experimental Neurology, highlights the advances and limitations in science surrounding the use of the therapy, which is derived from the cannabis plant.

Review author Doodipala Samba Reddy, PhD, RPh, of Texas A&M University Health Sciences Center, noted that cannabis has been used for therapeutic purposes for thousands of years. Although derived from the same plant as marijuana, Reddy said CBD does not have the same high properties as marijuana, due to its lack of Δ9-tetrahydrocannabinol (THC).

“When carefully extracted and isolated, CBD oil contains no or very little THC; however, the extraction procedures require significant standardization and quality controls to ensure the separation of these two components,” he wrote.

The FDA has approved Epidiolex, a CBD product, to treat severe seizures in patients with Dravet syndrome, Lennox-Gastaut syndrome, and tuberous sclerosis complex.

Reddy said efforts to study CBD for treating epilepsy have shown the drug can be effective in patients with difficult-to-treat seizures, but he added that such studies have not yet been able to tell. explain the mechanisms underlying these effects. However, he said the existing evidence suggests a wide range of effects, which could explain why CBD also appears to provide anti-inflammatory and neuroprotective benefits.

“Although the underlying anti-epileptic mechanisms of CBD in humans have not yet been elucidated, the identification of novel anti-epileptic targets of CBD preclinically indicates multimodal mechanisms that include non-cannabinoid pathways” , wrote Reddy.

He said cannabinoids seem to trigger pharmacological effects via CB1 and CB2 receptors. The ancient receptor is also involved in THC’s ability to cause psychoactive effects, he said.

In clinical trials in patients with the 3 disorders for which CBD is approved, the author noted that the therapy appears to be effective against a wide range of seizure types and has an acceptable safety profile in children and adults. adults. He also added that, unlike marijuana, CBD does not appear to pose a risk of addiction.

“A recent clinical study presents data indicating that CBD has minimal abuse potential and a mild side effect profile,” he wrote. “Therefore, patients are not at risk of getting high on purified CBD-only formulations.”

Still, the association with marijuana has led to controversy and “hype”, he said. Additionally, the proliferation of CBD products in states where recreational or medical marijuana is legal has created a market where not all CBD products are of equal quality, he said. One way to disconnect CBD from marijuana would be to better understand its mechanism of action and possibly develop synthetic forms of CBD.

“Understanding how CBD controls seizures is essential and will facilitate the design of new synthetic compounds to treat epilepsy without the challenges associated with obtaining CBD from plants, such as extraction, purification and standardization” , he wrote.

For now, Reddy said the FDA approval of CBD has helped make the therapy widely available and has also led to new research into CBD and its benefits.

However, he said it would be important for CBD therapies to stand out in the market to help resolve inconsistencies and ultimately lead to wider effective use of CBD to treat epilepsy. .

Reference

Reddy DS. Therapeutic and clinical basis of cannabidiol therapy for difficult-to-treat seizures in children and adults with refractory epilepsy Exp Neurol. Published online October 4, 2022. doi:10.1016/j.expneurol.2022.114237

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Charlotte Studham, daughter of Geelong, dies after being diagnosed with epilepsy while creating GoFundMe https://kepplah.com/charlotte-studham-daughter-of-geelong-dies-after-being-diagnosed-with-epilepsy-while-creating-gofundme/ Fri, 18 Nov 2022 13:19:23 +0000 https://kepplah.com/charlotte-studham-daughter-of-geelong-dies-after-being-diagnosed-with-epilepsy-while-creating-gofundme/

A young girl who died suddenly in her sleep after suffering from epilepsy for years, including up to 80 seizures a day, has been remembered for her “wicked sense of humour”.

Charlotte Ivy Studham, from Geelong, south-west Melbourne, died days before her 14th birthday on November 3 from suspected sudden unexplained death epilepsy (SUDEP).

Similar to SIDS in babies, the condition refers to the sudden death of someone with epilepsy, despite appearing otherwise healthy.

Charlotte was diagnosed with the condition when she was five years old, but she ‘tumbled’ four years ago and started suffering from daily seizures.

His broken family said the crises “impacted every aspect” of his young life, as well as the lives of his loved ones.

Charlotte Ivy Studham, from Geelong, south-west Melbourne, died just before her 14th birthday on November 3 from suspected sudden unexplained death epilepsy (SUDEP)

Her mother, Brooke Studham, said her daughter suffered from both epilepsy and a functional neurological disorder (FND), which also caused her to suffer from non-epileptic seizures.

Ms Studham said it was difficult to distinguish between seizures and those that were not.

Charlotte would often fall to the ground and start convulsing for 30 seconds, while other times a seizure would involve her staring for a brief moment – otherwise known as an absence seizure.

“When she was convulsing Charlotte could hear everything but she couldn’t move, she said she felt like she was trapped inside her body,” Ms Studham told Daily Mail Australia.

Ms Studham said while her daughter was receiving mostly excellent medical care, as information about the FND was so limited, some doctors believed Charlotte was bringing it to attention.

“It was disgusting,” the mother said.

“They would say ‘it’s all in his head’.”

Charlotte loved to dance and was preparing for her first dance concert

Charlotte loved to dance and was preparing for her first dance concert

Charlotte died days before her birthday, her mother still battling for answers

Charlotte died days before her birthday, her mother still battling for answers

Ms Studham said there were no warning signs before Charlotte lost her life.

“She went to bed and didn’t wake up,” she said.

She spoke about her daughter’s story to raise awareness about epilepsy and SUPED.

The family were constantly monitoring Charlotte and had cameras in her bedroom to monitor her regularly, but say they are still looking for answers as to why her illness took her life.

Ms Studham said even the autopsy was unable to determine whether Charlotte had had a seizure in her sleep.

The 13-year-old spent years in and out of hospital and, at worst, suffered 80 seizures a day, most of which would have been non-epileptic.

In August, she was hospitalized for five days after suffering 11 seizures.

“It was like she had had a stroke,” Ms Studham said.

“She forgot things and couldn’t even remember a recent family trip to Cairns, even when I showed her pictures she couldn’t remember.”

Charlotte's family have launched a fundraiser to help raise awareness of the complications of epilepsy

Charlotte’s family have launched a fundraiser to help raise awareness of the complications of epilepsy

During her seizures, her family followed her around the house and waited for her to come back, but sometimes she had to go to the hospital.

“I think we’ve met all the paramedics in Geelong,” Ms Studham said.

“She couldn’t go to the toilet by herself, she couldn’t shower by herself, we had to watch her.”

But her family was determined to give Charlotte as normal a life as possible, letting her take dance lessons and even ride a motorcycle.

Charlotte attended school, but only 12 hours a week, although under her mother’s supervision she was able to participate in the school camp.

WHAT IS SUDEP?

‘SUDEP refers to sudden unexpected death in epilepsy

In cases of SUDEP, no other cause of death is found at autopsy

Each year, more than 1 in 1,000 people with epilepsy die from SUDEP. It is the leading cause of death in people with uncontrolled seizures

The person with epilepsy is often found dead in bed and does not appear to have had a seizure

More than a third of the time there is a witnessed seizure or signs of a recent seizure near the time of death. They are often found lying face down

No one is sure of the cause of death in SUDEP and it may differ from case to case

Some researchers believe that a seizure causes an irregular heartbeat. Other research has shown that breathing difficulties following a seizure lead to death.

Source: Epilepsy Foundation

Ms Studham said her daughter was bubbly, always tried to make people laugh and loved to dance.

“Her first gig was next Saturday, she had an outfit picked out and I was ready to be a dance mom,” her mom said.

“She was so full of life, even when she was in hospital at her worst, she was still trying to make everyone laugh.

“Most adults can’t find the strength to do that.”

Prior to Charlotte’s death, she suffered from one non-epileptic seizure a day.

“We’ve spent a lot of time inside and outside of hospitals, so many tests and investigations which unfortunately don’t provide any clear answers,” Ms Studham said.

“But she took it all in her stride and never let it stop her.”

Ms Studham hopes that by sharing her story she will help ‘normalize’ epilepsy and ensure that people living with the disorder are included.

“These children are so much more than their diagnoses,” she said.

“Epilepsy is a silent killer.”

Ms Studham said her daughter loved music, animals, their pet dogs, dancing and playing with dolls.

“Charlotte had a sense of humor and wasn’t late to show up,” she said.

“She touched everyone she met with her huge smile and dimple in her left hand.”

His family have since launched a GoFundMe page to help raise awareness of SUDEP, with funds going to Geelong Hospital and Epilepsy Australia.

In the case of people who died with SUDEP, no other cause of death is found at autopsy.

Each year, more than one in 1,000 people who suffer from epilepsy will die from SUDEP, according to the Epilepsy Foundation.

It is the leading cause of death in people with uncontrolled seizures.

A private funeral will be held for Charlotte on Monday.

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Kerry man will swim at sea every day in honor of his son with rare epilepsy syndrome https://kepplah.com/kerry-man-will-swim-at-sea-every-day-in-honor-of-his-son-with-rare-epilepsy-syndrome/ Mon, 14 Nov 2022 18:58:50 +0000 https://kepplah.com/kerry-man-will-swim-at-sea-every-day-in-honor-of-his-son-with-rare-epilepsy-syndrome/ Freddie, the son of Tralee man John Verling, was born with Dravet Syndrome, an epilepsy syndrome that causes developmental delays and many other disabilities.

Freddie, the son of Tralee man John Verling, was born with Dravet Syndrome, an epilepsy syndrome that causes developmental delays and many other disabilities.

There is currently no cure for Dravet syndrome, which begins in early childhood and affects 1 in 20,000 children.

“Freddie had his first seizure at nine months old, but due to lack of awareness he wasn’t diagnosed until he was 18,” John wrote online.

“The diagnosis gave us hope, something to focus on and helped improve Freddie’s life by finally getting him on medication that reduced the ferocity of his seizures.”

To raise funds for Dravet Syndrome Ireland so they can “raise awareness of the syndrome and provide support to families”, John undertakes the grueling task of swimming in the sea every day during the month of November.

The writer and documentary filmmaker swam at Fenit or Banna Beach in Kerry without a wetsuit for five minutes each day.

“The Atlantic is cold this time of year and getting changed before and after isn’t fun either,” he added.

John created a GoFundMe page for the campaign and set a goal of €5,000.

To date, €4,700 has been raised through fundraising for Dravet Syndrome Ireland.

Those wishing to donate to the cause can do so here.

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Edinburgh mum urges UK government to help fund high costs of medicinal cannabis for children with epilepsy https://kepplah.com/edinburgh-mum-urges-uk-government-to-help-fund-high-costs-of-medicinal-cannabis-for-children-with-epilepsy/ Sat, 12 Nov 2022 03:50:02 +0000 https://kepplah.com/edinburgh-mum-urges-uk-government-to-help-fund-high-costs-of-medicinal-cannabis-for-children-with-epilepsy/

An Edinburgh mum, who has campaigned for years for cannabis oils to be prescribed by the NHS, has met politicians in London to raise money for families paying for expensive ‘life-changing’ drugs for treat epilepsy.

Karen Gray, whose 10-year-old son Murray suffers from a rare form of epilepsy, has paid nearly £60,000 over the past three-and-a-half years for privately purchased medicinal cannabis oils after seeing the positive transformative effects it had on her son. condition.

Karen, from East Craigs, joined parents whose children also suffer from rare epileptic conditions, for a meeting at Portcullis House in Westminster last week, to speak with MPs and voice the concerns shared by more than 100 families in the Kingdom UK who are forced to pay thousands of pounds on a monthly basis to treat their children’s epilepsy.

The photo on the left shows Murray in 2019 before he had access to cannabis oils. Murray’s mother Karen said the transformation has been “incredible” and he has now been in crisis for over two years.

The 47-year-old explained: “For years families have felt they have to fundraise in their own way to pay for these very high costs.” The mother-of-three, who has been buying cannabis oils since March 2019, compared the astronomical monthly payments to having “another mortgage”.

This week letters containing the signatures of 16 MPs who believe government intervention is needed to help affected families were sent to the Prime Minister and the Chancellor of the Exchequer asking for financial support.

The decision to seek government help comes after Karen and three other families launched a new charity, Intractable, four months ago – the UK’s first charity helping families with sky-high medical bills to treat epilepsy.

The November 1 meeting took place exactly four years after the UK government made it legal for the NHS to prescribe THC-containing cannabis oils. But, despite the 2018 law change, only three known patients have been prescribed the drug, and only one patient has been prescribed cannabis oils since the law changed.

Karen Gray joined campaigners last week, calling on the UK government to help families across the country pay their monthly medical bills. The Edinburgh mum said: “If you can’t afford this medicine your child is going to have a lot of seizures and he’s going to go back to hospital. It’s really terrifying.”

Around 30-40% of people with epilepsy in the UK do not respond to traditional NHS prescribed medicines, but doctors remain reluctant to prescribe THC oils, citing high costs and a lack of research and trials in the UK to make an informed decision – forcing families to buy cannabis oils from private clinics.

“It changed your life”

Karen, who is co-founder and secretary of Intractable, said: “The fact that we felt we had no choice but to go the private route is a damning accusation of the system. How can it be fair that the law in this area has been changed by campaigns from families with children with severe epilepsy, but almost all families in a similar situation are denied an NHS prescription? »

Karen’s son Murray, who has Doose Syndrome, had breathing problems and up to 100 seizures a day, but since taking specialist medication he now has a more active life, goes to school full time and has been seizure free for over two years.

Karen joined other campaigners last week in London to speak with MPs about the financial pressure families are under to pay for expensive cannabis oils.

She said, “It’s the THC that helps these kids. We no longer have the stress of watching Murray 24/7 because he has constant tantrums. It was life changing. Murray and other children have had no side effects since starting cannabis oil and they have been taking the drug for longer than an NHS trial would last.

She added: “It’s just up to the government to do something about it. If it was their child and they were in our situation, what would they do? »

Writing to the Prime Minister asking for financial help, Jo Griffiths, co-founder and vice-chairman of Intractable, said worried families “can no longer afford to pay privately” and that “children’s lives are now put to danger”.

Ronnie Cowan, SNP MP for Inverclyde and trustee of Intractable, remarked that the government lacked ‘compassion’ and said: ‘A promise was made and broken. The UK Government must engage with parents and seek to provide a solution now. Four years of waiting is four years too long.”

SNP MP and hard-nosed administrator Ronnie Cowan joined the families in Westminster last week to support their cause.
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The clock timing behind epileptic seizures explored https://kepplah.com/the-clock-timing-behind-epileptic-seizures-explored/ Wed, 09 Nov 2022 10:09:42 +0000 https://kepplah.com/the-clock-timing-behind-epileptic-seizures-explored/

For many who suffer from epilepsy, seizures happen like clockwork. But everyone has a different clock.

A new study co-led by researchers at Rice University and the University of California, San Francisco (UCSF) sought to formalize how these clocks work to give people with epilepsy a better sense of how and why their seizures occur, and perhaps better recognize the early warnings.

In the process, the project led by Rice alumnus Sharon Chiang, a clinical teacher and researcher at UCSF, and her mentor Marina Vannucci, a Noah Harding professor of statistics at Rice’s George R. Brown School of Engineering, have established that aging itself, as well as common triggers, may contribute to how disease affects seizure-prone individuals.

Their study appears in Proceedings of the National Academy of Sciences.

Epilepsy is a disorder in which surges of electrical activity in the brain cause seizures. Often these crises are cyclical and can be triggered by many events. But why different patients experience seizure cycles of different lengths is unknown.

“We developed a new statistical model to explicitly capture the effect of factors that can drive transitions in seizure risk,” Chiang said. “We looked at anti-epileptic drugs and different triggers like illness and menstrual cycles. These are some of the factors commonly thought to increase or decrease the risk of a seizure.

“The relationship between cycle length and age was an interesting finding,” she said. “We are able to see that there are shorter cycles in older age groups and then longer cycles in younger age groups. A shortening of cycle length with age may have potential ramifications in future clinical practice.

In previous studies, the group analyzed patients’ seizure diaries to assess their risk of seizures and looked at brain scans to find markers for epilepsy patients most likely to benefit from brain surgery.

The new work by Chiang, Vannucci and lead author Emily Wang, who earned her Ph.D. at Rice this year, seeks to underscore the importance of forest seizures – and lack thereof – on a day-to-day and long-term basis. This will help establish individual chronotypes or rhythms for patients who experience cyclical seizures and want to understand why seizures occur when they occur, what may trigger them, and how best to treat them.

An online diary that tracks seizure activity both simplifies the process for patients and provides researchers with a wealth of data to mine for their dynamic statistical systems models, with the “dynamic” part capturing changes over time. Seizure Tracker, founded by co-author Robert Moss, provides tools to help patients, physicians, and researchers understand the relationships between seizure activity and therapies that will improve patient care.

For the current study, diaries of more than 1,000 patients aged 2 months to 80 years helped the team model the relationship between “attractor states”, internal and/or external events such as the onset of a new drug or disease, and the peaks and valleys of seizure activity in an individual patient.

“The point of this model is to try to guide the patient and the doctor, in particular,” Vannucci said. “We want to help doctors say, ‘OK, this medicine is really important for this patient with this type of seizure’ and better control their seizures. »

The relevance of a patient’s age also emerged from Seizure Tracker data. “Quiet periods between attacks seem to shorten for patients as they age,” Vannucci noted.

“Triggers and age are the two factors that we found to be important for the state change of attractors,” she said. “The data shows that with age, patients have shorter cycles. This seems obvious, but the link had not been formally established.

The data is accurate for patients who can recognize and record every seizure every day, but researchers know people aren’t always able to do this. This is where the team’s experience in Bayesian modeling helps fill in the gaps.

Vannucci said the new study is the product of research that began in 2017. “Doctors and patients sit down and see when their seizure frequency is increasing or decreasing or stable,” she said. . “We realized that we could formalize in a statistical model the attractors and the latent states and deduce the changes of states.”

This culminated in a 2018 Epilepsia Open study that suggested a Bayesian model could better define seizure risk for patients. From there, she says, the team incorporated attractors and other covariates like drugs to build the model detailed in the current study.

“We hope this study is the best of all and the most useful for patients and doctors,” Vannucci said.

Reference: Wang ET, Vannucci M, Haneef Z, Moss R, Rao VR, Chiang S. A Bayesian Switched Linear Dynamical System for Estimating Seizure Chronotypes. Proceedings of the National Academy of Sciences. 2022;119(46):e2200822119. doi:10.1073/pnas.2200822119

This article was republished from the following documents. Note: Material may have been edited for length and content. For more information, please contact the quoted source.

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neurology today https://kepplah.com/neurology-today/ Thu, 03 Nov 2022 21:23:07 +0000 https://kepplah.com/neurology-today/

According to a study published on November 2 in Neurology suggests.

“Our work amplifies the findings of three previous reports of influenza-associated death cases in SCN1A-DS, and [it] highlights how susceptible patients with SCN1A-DS are to the life-threatening sequelae of influenza infection,” wrote lead author Katherine B. Howell, PhD, of the Royal Children’s Hospital, University of Melbourne, and Murdoch Children’s Research Institute, all in Melbourne, Australia “Neurological complications of influenza are more common and more severe in people with SCN1A-DS than in general pediatric patients. [sic] population.”

According to the researchers, 7 to 120 out of 10,000 children in the general population are hospitalized with the flu each year, and 9 to 20 percent end up developing neurological complications, such as simple febrile seizures. Most patients recover despite the severity of the complications, the researchers said, but those with pre-existing neurological complications generally have higher rates of flu-related neurological complications and even death.

Dr. Howell and colleagues sought to determine the range and frequency of complications from influenza infection in people with SCN1A-DS, a developmental, epileptic encephalopathy that researchers say occurs in 6.5 per 100,000 live births. According to the study, vaccine-near seizures or vaccine-near status epilepticus (SE) occur in 27 to 40 percent of people with the disease.

“As a result, rates of vaccination hesitancy and refusal as well as incomplete vaccination are high in this patient population,” the researchers said. “However, [Dravet syndrome] is also associated with a high risk of seizures and SE with febrile illness, underscoring the critical need to protect patients against the sequelae of vaccine-preventable illnesses.

The researchers found the 82 study participants through neurologists at two Melbourne hospitals and through searches of EEG databases, the Victorian PAEDS FluCan database and the program database. of Genetic Research in Epilepsy from the University of Melbourne. They reviewed medical records and spoke to families of patients seen at Austin Hospital Dravet Clinic in 2019 and 2020 to identify participants who had the flu; they then confirmed these infections via pathology reports.

“Influenza infection is common, occurring in a quarter of our cohort of individuals with SCN1A-DS,” the researchers said.

Specifically, 21 people had a total of 24 documented influenza infections (17 type A and seven type B) at a median age of 4 years. Seventy-five percent sought treatment in a hospital for SE or exacerbations of seizures.

“One child died of influenza pneumonia and long-term neurological sequelae were observed with four infections,” the researchers said. [SE]; brain imaging in two showed cerebral edema, with one also having imaging features of laminar necrosis. All have ongoing neurological deficits from baseline, with one having profound global impairment.”

Six participants developed sequelae of influenza infection at a median age of 7.5 years; seizures occurred for less than a month to several times a week. Two patients developed sequelae after brief hospital stays.

“Follow some [two to eight] years after influenza infection found that sequelae remained severe in two individuals and were moderately severe in one, affecting most or all domains of function,” the researchers said. “The most severely affected individual is unresponsive, has poor head control and is fed via gastrostomy. The sequelae were cumulative in the individual with two infections, who needed help to move around and feed himself by gastrostomy after his first infection, and who needed a wheelchair to move around after the second.

While patients with SCN1A-DS could potentially develop vaccine-near seizures (VPS) or vaccine-near SE, the researchers concluded that “it is likely that influenza vaccination is safer than ‘influenza infection in patients with SCN1A-DS’.

“Our data suggest that influenza vaccine can be safely administered in this population, although it is unclear whether antipyretics and additional ASM [antiseizure medications] should be used consistently,” they said. “Prior to influenza vaccination in children with SCN1A-DS, it may be prudent to review the regular ASM regimen, discontinue contraindicated ASMs where possible, and ensure a management plan emergency seizures, including rapid administration of benzodiazepines. , is in place.”

In an accompanying editorial, Katherine C. Nickels, MD, and Elaine C. Wirrell, MD, FRCP, Divisions of Childhood and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, stated that researchers have demonstrated that antipyretics or other ASMs can mediate the exacerbation of seizures that can occur in patients with SCN1A-DS when they receive a vaccination.

“While all children can experience acute encephalopathy with influenza, those with Dravet syndrome are likely to be at greater risk of permanent neurological sequelae, even with aggressive treatment. … Therefore, the benefits of a proactive approach to routine vaccinations far outweigh the risks,” said Drs Nickels and Wirrell. “All children can suffer from acute encephalopathy with viral illnesses, such as influenza, making adherence to Vaccination essential for all.

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PODCAST: THRIVE Part 17: Gauteng woman with epilepsy shares her story – SABC News https://kepplah.com/podcast-thrive-part-17-gauteng-woman-with-epilepsy-shares-her-story-sabc-news/ Tue, 01 Nov 2022 11:35:54 +0000 https://kepplah.com/podcast-thrive-part-17-gauteng-woman-with-epilepsy-shares-her-story-sabc-news/

A Gauteng woman, Linda Dias Menezes, was diagnosed with epilepsy in 1999 at the age of 13.

According to the World Health Organization (WHO), epilepsy is a chronic, non-communicable disease of the brain that affects approximately 50 million people worldwide.

It is characterized by recurrent seizures, which are brief episodes of involuntary movements that may involve part of the body or the whole body, and are sometimes accompanied by loss of consciousness and control of bowel or bladder function.

Seizures are the result of excessive electrical discharges in a group of brain cells. Different parts of the brain can be the site of such discharges.

According to the Department of Health, about one in 100 people have epilepsy and 75% of people had their first seizure before the age of 20 in South Africa.

Menezes shares his journey with disability, his personal achievements, his aspirations and his challenges with SABC Digital news producer Lebo Tshangela in this bi-weekly feature, Thrive.

She says, “People with epilepsy are able to keep their jobs and do well academically. I think the key is to just take care of yourself, know what your triggers are, and take your meds.

Below is the full podcast:

Related: PODCAST: THRIVE Part 1: A Paraplegic Former Western Cape Councilor Shares His Story

Related: PODCAST | THRIVE Part 2: Visually impaired rapper and radio host shares his story

Related: PODCAST: THRIVE Part 3: Paraplegic Former JSE Employee Shares Her Story

Related: PODCAST: THRIVE Part 4: Amputee Bachelor Randi Ndele Shares Her Story

Related: PODCAST: THRIVE Part 5: Disability Shouldn’t Be A Barrier In Your Life, Says Visually Impaired Community Leader

Related: PODCAST: THRIVE Part 6: Gender and Equality Commission Commissioner with Albinism Shares Her Story

Related: PODCAST: THRIVE Part 7: Journalist and Para-Athlete Star Palesa Manaleng Shares Her Story

Related: THRIVE Part 8: Mosala Makhetha shares her experience of being a deaf person in South Africa

Related: PODCAST: THRIVE Part 9: Northern Cape Woman With Erb-Duchenne’s Palsy Shares Her Story

Related: PODCAST: THRIVE Part 10: Single Amputee Robert Masambo Shares His Story

Related: PODCAST: THRIVE Part 11: Visually Impaired Bank Clerk Shares His Story

Related: PODCAST: THRIVE Part 12: Politician Poppy Mocumi Shares Her Disability Story

Related: PODCAST: THRIVE Part 13: Visually Impaired Businessman Shares His Story

Related: [WARNING: GRAPHIC CONTENT] PODCAST: THRIVE Part 14: Dancer Amputee Seun Stew Shares His Story

Related: PODCAST: THRIVE Part 15: Former MP Andrew Madella Shares His Disability Story

Related: PODCAST: THRIVE Part 16: KZN woman with humeral facio scapula muscular dystrophy shares her story

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People are urged to get a COVID-19 reminder https://kepplah.com/people-are-urged-to-get-a-covid-19-reminder/ Fri, 28 Oct 2022 16:29:02 +0000 https://kepplah.com/people-are-urged-to-get-a-covid-19-reminder/

The Department of Health and Social Care is urging those eligible to receive their COVID-19 booster shot this winter.

Anyone over the age of 50 will be offered the COVID booster shot, as well as anyone aged 5 to 49 in a clinical risk group, including people with epilepsy. This will increase protection against the virus during the winter.

Daniel Jennings, Senior Policy and Campaigns Manager at Epilepsy Action, said: “COVID-19 continues to have a significant impact on all of our lives and it is important that we continue to protect ourselves – and others – We are joining with other charities to encourage people in Priority Group 6, including those with epilepsy, to get the COVID shot this winter.

“Studies have shown that people with epilepsy may have a slightly increased risk of being hospitalized or dying from coronavirus. Vaccination is a key part of beating the virus and keeping people safe.

“That’s why it’s so important that people with epilepsy who have already been vaccinated receive the booster to give them the best possible protection through the winter and beyond.”

“It is important to remember that vaccines approved for use in the UK have met the strict safety standards set by the medicines regulator. They have also been deemed safe for people with neurological conditions, including epilepsy, by the Association of British Neurologists.

There is more information on the UK government website.

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Huge Growth of Dravet Syndrome Treatment Market in the Future Scope 2022-2028 | pygenix Therapeutic, Ovid Therapeutics, GW Pharmaceuticals, Zogenix https://kepplah.com/huge-growth-of-dravet-syndrome-treatment-market-in-the-future-scope-2022-2028-pygenix-therapeutic-ovid-therapeutics-gw-pharmaceuticals-zogenix/ Wed, 26 Oct 2022 11:33:06 +0000 https://kepplah.com/huge-growth-of-dravet-syndrome-treatment-market-in-the-future-scope-2022-2028-pygenix-therapeutic-ovid-therapeutics-gw-pharmaceuticals-zogenix/

📝 Dravet syndrome (DS), also known as polymorphic epilepsy and polymorphic epilepsy of infancy (PME), is a serious and rare inherited brain dysfunction (epileptic encephalopathy). It normally begins in the first year of life and lasts for the rest of life. Seizures in children with Dravet syndrome include myoclonic seizures, tonic-clonic seizures, absence seizures, atypical absence seizures, atonic seizures, focal conscious or altered seizures (formerly called partial seizures) and status epilepticus. Dravet syndrome is often treated with a combination of medications. Medications most often used to treat seizures and Dravet syndrome include anticonvulsants such as Stiripentol, Topiramate, and valproic acid. Some devices are used to treat Dravet syndrome when medications do not decrease the severity of seizures. One such device is a vagus nerve stimulation device, which sends electrical impulses to the vagus nerve.

Download a sample report (PDF of 345 pages with information, graphs, tables, figures):
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⏩ The following key players are covered in the Dravet syndrome treatment market report: Epygenix Therapeutics, Inc., Ovid Therapeutics, GW Pharmaceuticals Plc., Takeda Pharmaceutical Company Ltd, Zogenix, Inc, OPKO Health Inc., Biocodex SA, Biscayne Neurotherapeutics, Inc., and PTC Therapeutics, Inc.

The Dravet Syndrome Treatment market study reveals the risks and restraints in the market along with the impact of different regulatory regimes which helps the executives to create a plan for the business. This document has been written with the aim of helping companies make better decisions and achieve their main objectives. The global market report includes an in-depth analysis of the region with the highest growth rate, graphical representation of geographical distribution, regions with highest market revenue, market size, position, upcoming innovations, geographic distribution, administrative policies, and important corporate profiles and strategies.

⏩ Market segmentation

The analysis splits the Dravet Syndrome Treatment market into segments based on platform, product, capacity, and geography to give readers a comprehensive understanding of the industry. Based on current and forecasted trends, every aspect of this market has been examined. The global Dravet syndrome treatment market is segmented into four categories: company, type, application and geography (country). In-depth segmental analysis now focuses on revenue and forecast by location (country), type and application.

⏩ Dravet Syndrome Treatment Market Segmentation:

By type of treatment

  • Drugs
    • Anticonvulsant
    • Benzodiazepines
    • Others
  • Device

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⏩ Competitive landscape

Global Dravet Syndrome Treatment Market competitive analysis section includes insights and trade insights. The competition, market overview by company status and business outlook by region are some of the information presented. These companies are taking full advantage of product launches, collaborations, technical breakthroughs, agreements and partnerships to increase market compensation.

⏩ Regional outlook

The Dravet Syndrome Treatment market is geographically segmented into several key areas, each with their own revenue, market share, sales, and growth rate. Europe, South America, North America, Asia-Pacific, Middle East and Africa are just some of the regions covered. Latin America is expected to have a modest share of the global market in terms of value, while North America is expected to maintain its global market dominance and gain significant market share by volume and value.

⏩ Conclusion

The study is based on first-hand experience, qualitative and quantitative analysis by industry analysts, and feedback from key market players and industry experts. Segment by segment, the study examines the evolution of the parent industry, the micro and macroeconomic indicators, the determining factors and the attractiveness of the market. The study also demonstrates how various market parameters impact the geography and market segmentation in terms of quality.

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⏩ Table of Contents – Analysis of Key Points

Chapter 1Dravet Syndrome Treatment Description, Specifications and Support, Dravet Syndrome Treatment Applications, Market Segment by Regions;

Chapter 2manufacturing cost structure, commodities and suppliers, manufacturing process, chain of custody structure;

chapter 3Dravet syndrome treatment manufacturing workshop technical data and analysis, commercial production capacity and date, manufacturing workshop distribution, R&D status and technology source, raw equipment source analysis;

Chapter 4Global Demand Analysis, Capacity Analysis (Company Segment), Bid Analysis (Company Member), Bid Price Analysis (Company Member);

Chapter 5 and 6Regional Marketing Research including United States, China, Europe, Japan, Korea, and Taiwan, Dravet Syndrome Treatment Segment Market Analysis (by Type);

Chapter 7 and 8Dravet Syndrome Treatment Segment Market Analysis (by Operation) Dravet Syndrome Treatment Major Manufacturers Analysis;

Chapter 9Market Analysis, Regional Market Trend, Market Trend by Product Type Natural Preservative, Chemical Preservative, Market Trend by Application

Chapter 10regional marketing type analysis, international trade type analysis, supply chain analysis;

Answers to Critical Questions in the Dravet Syndrome Treatment Request Report

Continued…

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EEG, MRI alone are not enough to diagnose CLN2 disease https://kepplah.com/eeg-mri-alone-are-not-enough-to-diagnose-cln2-disease/ Thu, 20 Oct 2022 18:08:02 +0000 https://kepplah.com/eeg-mri-alone-are-not-enough-to-diagnose-cln2-disease/

Although electroencephalogram (EEG) and MRI results can detect early signs of ceroid lipofuscinosis type 2 (CLN2) disease, they cannot independently diagnose the disease, according to a panel of specialists from disease.

For early diagnosis, the committee recommends that genetic testing be initiated soon after the onset of early clinical and EEG/MRI abnormalities.

The experts’ conclusions were published in the Journal of Childhood Neurologyin the study”Role of electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings in early recognition and diagnosis of ceroid neuronal disease lipofuscinosis type 2.”

CLN2, also known as classic late childhood Batten disease, is a rare disease caused by mutations in the CLN2 gene, which carries instructions to create an enzyme called tripeptidyl peptidase1 (TPP1). Such mutations lead to the toxic buildup of waste products inside cells, especially nerve cells. Signs and symptoms usually appear between ages 2 and 4, with early features such as recurrent seizures (epilepsy), language delays, and difficulty coordinating body movements (ataxia).

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CLN2 can be diagnosed by genetic testing and/or by measuring TPP1 activity. However, in the absence of systematic screening, the disease must first be suspected by the doctor making the diagnosis. Due to the rarity of CLN2, many healthcare providers may have limited knowledge of the condition. Even more difficult, early signs and symptoms are not unique to CLN2, increasing the risk of initial misdiagnosis and treatment delays.

Studies suggest that CLN2 patients may show atypical brain wave activity, measured by EEG, and changes in brain structure via MRI images.

Researchers based at Nationwide Children’s Hospital in Columbus, Ohio, brought together a panel of CLN2 specialists to discuss real-world EEG and MRI findings to raise awareness of early indicators of CLN2 in order to promote faster diagnosis and treatment.

The study was sponsored by BioMarin Pharmaceutical, the maker of Brineura (cerliponase alfa), an approved enzyme replacement therapy designed to slow walking decline in CLN2 children by providing an external source of the missing TTP1 enzyme.

Experts collected information on early clinical signs and EEG and MRI findings from 18 CLN2 patients, with the first clinical symptoms appearing between 1 and 3.5 years of age. Language difficulties were observed in all 18 patients and were the first symptom in 15 (83%) patients. The researchers noted that language delay alone was limited as an early indicator of CLN2 due to natural variation in the speed of language development.

Almost all patients (94.4%) had seizures, mainly after language delays. Eight (44%) patients had received other diagnoses prior to their CLN2 diagnosis, most commonly various forms of epilepsy. Diagnoses were revised with further decline or new symptoms. The CLN diagnosis was established from 2 years, 7 months to 4 years, 9 months, and the diagnosis delays extended up to 3 years, 5 months.

In most facilities, an EEG was required after the first seizure. On the initial EEG, 16 (88.9%) showed background slowing, representing developmental slowing in children. Epileptiform discharge, a rare abnormal pattern associated with epilepsy, was observed in 16 (88.9%) patients. An abnormal response to light stimulation occurred in seven of the 17 patients.

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genetic screening for epilepsy |  Batten Disease News |  DNA illustration

Experts agreed that an impaired response to light stimulation was usually not present until a six-month follow-up. Therefore, as an early indicator of CLN2, it might delay diagnosis. Overall, they recommended that each EEG facility develop a light stimulation testing protocol for young children with seizures and that any unusual EEG findings be followed up by a pediatric neurologist.

MRIs were usually performed with early seizures in children under 3 years old. During the first MRI scans, most patients (77.8%) had shrinkage (atrophy) of the cerebellum – the area of ​​the brain that controls coordination and balance. Atrophy of the main part of the brain, or cerebrum, was observed in nine patients (50%), while material abnormalities were found in 11 (61.1%).

However, the extent of atrophy on initial MRI was often subtle and sometimes recognized as abnormal only retrospectively; data on normally developing children were also missing, hampering interpretation. The panel recommended the implementation of age-appropriate tools to aid in the identification of early white matter abnormalities and atrophy in young children.

On follow-up MRIs, all 15 patients assessed had cerebellar and cerebral atrophy and white matter abnormalities. Although MRI results are consistent across patients and may be an early indicator, “atrophy is common to a number of diseases and therefore is not sufficient as a single diagnostic indicator,” the researchers wrote.

Based on the published literature and their own experience, the panel agreed that none of the EEG and MRI findings were unique to CLN2 or occurred at a high enough incidence to be an indicator. in itself. So, to get an early diagnosis, the team recommended that a combination of clinical abnormalities and EEG/MRI should raise a red flag for CLN2 and the need for rapid genetic testing.

Genetic testing is not uniform

Discussions also revealed that criteria for genetic testing differed between facilities and that seizure guidelines do not yet incorporate genetic testing as a first-line measure to assess new seizures.

Considering the impact of early diagnosis and treatment on the rate of progression of CLN2, panelists said that “a case can be made for routine screening of children who present with subtle clinical symptomatology encountered with CLN2, such as autism, global developmental delay or new onset developmental delay seizure.

“Greater awareness of early signs of CLN2, increased adoption of genetic testing early in the diagnostic journey, and better communication between specialties are needed to enable earlier diagnosis and initiation of targeted disease-modifying therapies” , the researchers concluded.

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