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 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
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.
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.
Reduced Brain Volume in Epilepsy Patients
With BrainPost, we hope that everyone can learn more about the scientific process and stay up-to-date with the latest neuroscience findings. It's exciting to know that the research I publish can help make a difference in the lives of those living with neurological conditions, like epilepsy.