Blog/Q&A
Understanding epilepsy through genomic medicine
The vast majority of people with epilepsy are overwhelmingly treated with no knowledge of their genomic makeup. However, the future of medicine would seem to lie in the ability to more accurately target epilepsy treatment based upon knowledge of a person’s genome. This is commonly referred to as precision medicine, personalised medicine, or genomic medicine.
The life of a clinical physiologist…
Neurophysiologists, as well as seeing you in clinic, maybe after your first seizure or to monitor progress on a particular medication, we see lots of patients on the wards including intensive care. As well as epilepsy, EEGs give us a lot of valuable information to diagnose and assist in the treatment of many conditions including managing brain injuries and coma.
The complexity of epilepsy - an overview
As a Genome Scientist, I have spent my career working on the human genome. I am also the parent of two young children who, unfortunately, both suffered brain damage during birth and have severe cerebral palsy. My daughter also developed a rare and catastrophic form of epilepsy at 8 months, called West syndrome, or infantile spasms.
Putting Epilepsy in English!
When scientists and clinicians write research papers, we have to do it in a very particular way, using technical words and following strict ways of working. However, this isn’t particularly helpful for most people with epilepsy who want to read about the research into their condition, but don’t necessarily know all of the technical terms!
Living with HH - a Rare Epilepsy
It is estimated that 1 in around 200,000 people is born with a hypothalamic hamartoma (HH), an epileptogenic lesion attached to the hypothalamus. However, HH syndrome is so rare
Epilepsy - A Part of Me
I was 7 years old when I first had a seizure in school. My doctors told me that this didn’t always mean that a person had epilepsy, but, after having a cluster of 3 seizures just after lunch one day, I went on to have an EEG and MRI, the results of which led to my doctors diagnosing me with epilepsy. They diagnosed me with a rare form of Reflex epilepsy known as Eating Epilepsy.
Rare Epilepsies - An Advocate
First and foremost, I am mum to my 18-year-old twins, Will and Ella. Will has had seizures since day 4 of his life and it wasn’t until he was 14 that we found out that he had a rare genetic epilepsy called SCN2A2. I’m also Founder of SCN2A Australia3, Co-Founder of Genetic Epilepsy Team Australia (GETA)4, and on the Leadership Council for Global Genes5.
Sleep Disruption in Childhood Epilepsy
Sleep and epilepsy have a strong and bidirectional association. Sleep disturbances are commonly experienced by children with epilepsy and can be due to multiple factors. These include seizures, which can disrupt the continuity of sleep, and lead to daytime sleepiness
Dad, Can You Create a Light that Turns On When My Brain Switches Off?
The first time my wife and I saw our son shaking we were in the kitchen. I’ll never forget it. As the shaking occurrences continued, we knew instinctively that they would not just blow over. The hollow gaze, the clinging in the air, the convulsions and especially the anxious, support-seeking look on his face. These continued for a while…
A Day in the Life of an Epilepsy Research Nurse
I am Javier Peña Ceballos and the epilepsy research nurse at King’s College Hospital. Two weeks ago, I had the pleasure of inviting Luke Stevens to take part in the REGAIN study. Luke had a diagnosis of Rolandic Epilepsy as a child and is now involved in promoting research into childhood epilepsy. Luke attended a research appointment at the National Institute for Health Research/Welcome Trust Clinical Research Facility at King’s College Hospital.
Involuntary Laughing - It’s a Seizure
Epilepsy Jo is the woman sitting where I was sitting; from the moment a seizure starts to the moment it ends. It’s Epilepsy Jo who during a seizure picks at her clothes, fiddles with anything within reach, raises her eyebrows, and smacks her lips. It’s Epilepsy Jo who, as a seizure starts, makes a guttural noise like (really terrible) Mongolian throat singing.
Planning the Future for the Epilepsies
The beginning of the year is a great time to compile lists, rankings and proffer awards from the former. I am not tempted to laud my ‘patient of the year’, nor hand out laurel wreaths to ‘Anti-Epileptic Drug of the decade’ – but I wanted to tell you about my favourite conference
A Rare Tumour & Epilepsy
Previously Charlie’s paediatricians had diagnosed childhood autism and ADHD. It was only when I read up about odd bursts of laughter and discovered gelastic epilepsy that I was able to insist upon an MRI scan which revealed his hypothalamic hamartoma.
How I Discovered Brain Art
If you have epilepsy, you might see your brain as your enemy. It acts out when you least expect it. It steals your cognitive gifts and harms the body you’ve tried so hard to protect. But if you take a step back from investigating it at the molecular level and really look at the brain one cell at a time, you’ll see that it’s actually quite beautiful.
Epilepsy - Enriching Lives Through Music
For about a year now I have been working with a pupil with epilepsy - and Torie has been great fun to teach! I always look forward to our lessons where I know a laugh or two awaits – as well a good discussion on something pressing on one or both of us that week.
I’m Not My Epilepsy - I’m My Art
Whilst pregnant with my daughter my life changed drastically in so many ways: during my first trimester, I started having tonic-clonic seizures and was diagnosed with epilepsy.
I have always had a not-so-secret love affair with art: it has saved me during the two major health crises’ over the past few years; from losing my sight and becoming legally blind to then being diagnosed with epilepsy.
Suicide & Epilepsy
Studies of those with epilepsy in the US have shown that about a third of people with focal seizures suffer from anxiety disorders and that depression is 4-7 times more common in those with epilepsy. Another US study showed that people with epilepsy are at a 22% higher risk of suicide that the general population
Epilepsy: A Misunderstood Disorder in India
People around me used to make fun of me all the time as I stood there: in the spotlight, frozen, trying to recollect something, or to locate the words in my brain about the story I was telling them or the presentation I was giving. Whatever the occasion, by the time that I’d come to, I knew that I’d screwed up. But I don’t blame the people for being mean either…
Podiatry for People with Epilepsy & Down Syndrome
Epilepsy is a diagnosis with uniquely differing characteristics in every patient.
As stated above, while each case is treated differently it is important to be cognizant of the etiology of epilepsy in patients. I’d like to break it down simply into two categories: people that have epilepsy with no other medical manifestation versus people with Down syndrome.
Epilepsy to an Employer - In India
Hostel ragging was unfortunately very common back when I was at college and my batchmates (those in the same year as me) were being ragged. During all of this one of my batchmate’s who had epilepsy suddenly dropped to the floor and started shaking in what turned out to be a generalised tonic-clonic seizure. We rushed him to the hospital