Severe childhood epilepsy

Severe childhood epilepsy can affect newborns, infants and children, manifesting in a range of seizure types that are often accompanied by developmental and cognitive delay, autism and movement disorders.

These conditions, known as developmental and epileptic encephalopathies, are usually caused by genetic variants that can be found in more than 800 genes. Patients on the severe end of the spectrum often don’t respond to currently available anti-seizure medications and require long-term care and management due to the complex nature of their condition.

How the Florey is making a difference

One of our key focuses is assessing disease-causing variants in a range of disease models, including mice and stem cells. By using these models, we’re able to investigate how the gene variation changes the function of neurons or how it impacts brain development.

Our research extends to actively screening drugs and identifying precision medicine strategies tailored to the specific needs of individual patients. For instance, we’ve developed antisense oligonucleotide therapies that show the potential to treat certain forms of developmental and epileptic encephalopathy. Our work has also led to identifying drugs that may benefit patients with HCN1 variants.

These advancements highlight our commitment to translating scientific discoveries into tangible clinical applications, ultimately improving the lives of children and their families affected by developmental and epileptic encephalopathy.

Research groups

More information

While The Florey researches epilepsy, we do not offer medical advice or crisis support. For support or further information about epilepsy, contact the Epilepsy Foundation on 1300 761 487 or Epilepsy Action Australia on 1300 37 45 37.