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.

Read More

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.

Read More

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.

Read More
Research, Genetics, Epilepsy Nurses Javier Peña Ceballos Research, Genetics, Epilepsy Nurses Javier Peña Ceballos

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.

Read More