Funded Research

In line with our commitment to high-quality research and high-quality researchers, the Epilepsy Foundation supports cutting-edge Australian research. This research aims to help find novel treatments for epilepsy, with the aim of one day finding a cure, and to identify the best information for supporting people living with epilepsy today.

Projects funded through the AERF:

The Epilepsy Foundation would like to congratulate the recipients of funding through the inaugural round of the Australian Epilepsy Research Fund – we are excited to be able to fund such cutting-edge research, examining the genetic basis of epilepsy and mood disorders in epilepsy, with the hope of improving the lives of those living with epilepsy.

Project: Reducing epileptic seizure frequency with transcranial direct current stimulation in patients with drug-resistant temporal lobe epilepsy: A placebo-controlled randomised trial

Lead Researcher: Dr. Maryam Zoghi

Funding: $50,000

Timeline: 2 years

Dr. Maryam Zoghi is leading research on whether transcranial direct-current stimulation over the temporal lobe reduces the seizure frequency for people with drug-resistant temporal lobe epilepsy.

Temporal lobe epilepsy is a common type of focal epilepsy. It can be challenging for people with this type of epilepsy to be seizure-free with medication alone.

Transcranial direct current stimulation is the process of running a low current of electricity through electrodes placed on two areas on the head to decrease the activity of the epileptic area in the brain; this process is painless and non-invasive. In this study, the treating electrode is placed over the temporal lobe.

A comparison will be made against a group receiving a placebo stimulation to determine whether this treatment is effective. This placebo group will continue to receive their regular medication.

The aim of the study is to achieve a significant reduction in a person’s seizure frequency by four weeks and an overall improvement of their health-related quality of life by two months compared to the placebo group.

This study is currently recruiting participants.

Project: Improving first seizure assessment and management

Lead Researchers: Professor Terence O’Brien and Dr Emma Foster

Monash University

Funding: $235,596.70

Timeline: 2020 – 2022 (complete)

Patients attending Emergency Departments after a first seizure receive variable and not always evidence-based management. The extent to which this impacts health and economic outcomes had not been systematically studied.

This project aimed to improve healthcare for people living with epilepsy, identifying important comorbidities accompanying first seizures and limiting or preventing adverse consequences of seizures.

The research identified outcomes for 10,863 first seizure patients who attended four Melbourne hospitals over a 10-year period, and assessed the impact of First Seizures Clinics, a health intervention aiming to optimise first seizure care.

Outcomes: Key findings were that failure to attend First Seizure Clinic after presenting to the Emergency Department with a seizure event was associated with a 2-3x increased risk of future hospital attendances. These data support First Seizure Clinics as an effective healthcare intervention.

Project: Preparing Australia for precision medicine in the developmental and epileptic encephalopathies

Lead Researcher: Laureate Professor Ingrid Scheffer

The University of Melbourne, Austin Health

Funding: $686,537

Timeline: 2020 – 2024 (complete)

Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies and are defined by frequent seizures (often with multiple seizure types), frequent epileptiform activity and developmental slowing or regression.

Our Australian-wide genetic epilepsy network (EPILEPSY-PM) brings together clinicians, researchers and families of children with genetic epilepsies, with a particular focus on DEEs. The project has built a Natural History Study of all patients with genetic DEEs in Australia and beyond.

A complex battery of neuropsychological instruments has been developed to identify changes in development, motor skills and comorbidities in patients with DEEs, to enable fine-grained phenotyping of each child’s skills and to assess their developmental progress over time.

Outcomes: Our research program will provide critical translational data informs that will underpin development and evaluation of novel therapies and precision medicine for individuals with DEEs, as the natural history data is used to compare the efficacy of novel therapies. This will lead to appropriate treatment pathways including when is the best time to treat a child to give them the potential to lead healthy, fulfilling lives.

Project: Uncovering the hidden genetics of non-lesional focal epilepsy

Lead Researcher:  Associate Professor Piero Perucca

Monash University and The University of Melbourne

Funding: $249,815

Timeline: 2020 – 2023 (complete) 

Genetic determinants of focal epilepsies have long been underestimated, owing to the widespread perception that these disorders are largely attributable to acquired brain lesions. However, in most cases, no epileptogenic lesion is detectable on MRI brain (i.e. ‘non-lesional focal epilepsy’).

This research project set out to uncover the hidden genetics of non-lesional focal epilepsy through a novel approach combining clinical and molecular research.

The researchers interviewed close family members of people with non-lesional focal epilepsy to investigate if they had unrecognised epilepsy. The team also collected DNA samples from people with epilepsy (as well as from their close family members) and investigated if there were underlying genetic changes that may link to their focal epilepsy.

Outcomes: A significant finding of this project is that many non-lesional focal epilepsies have a genetic basis. This research is key for improving patient care, and for designing novel and more targeted therapies in the future.

Project: A Clinical Liquid Biopsy to Diagnose Epilepsy

Lead Researcher: Associate Professor Michael Hildebrand

Department of Medicine, University of Melbourne, Austin Health

Funding: $224,640

Timeline: 2020 – 2023 (complete)

A key goal in understanding genetic epilepsies is new approaches to discover genes and reveal underlying genetic mechanisms. This research project investigated an alternative strategy to access brain DNA to enable gene discovery.

The researchers investigated a cutting-edge technique to detect the ‘hidden genetics’ of epilepsy through identification of somatic mutations. The technique involves the detection of somatic genetic variation in the brain by using a minimally invasive lumbar puncture to sample cerebrospinal fluid. The research team were the first to identify causative somatic variants in the cerebrospinal fluid of individuals with focal epilepsy. 

Outcomes: This study demonstrated the feasibility of using spinal fluid to reveal a genetic diagnosis for some types of epilepsy.

Project: Phenotyping depression and anxiety in people with epilepsy

Lead Researcher: Dr Genevieve Rayner

Funding: $570,022.20

Timeline: 4 years

Dr Genevieve Rayner is a clinical neuropsychologist and outstanding early career researcher in the field of epilepsy and mood disorders.

Depression and anxiety commonly co-occur with epilepsy and can often go undiagnosed, significantly impacting the quality of life of people with epilepsy. Dr Rayner and her team from the University of Melbourne are taking an exciting and novel approach to understanding depression and anxiety in epilepsy by examining whether genes that cause specific epilepsies are associated with depression and anxiety. This will help to expand our understanding of the different ways in which depression and anxiety may manifest depending on the underlying genes, and may open up exciting new opportunities for the treatment of mood disorders in epilepsy.

Currently this project has recruited and started collecting data from dozens of participants from more than 20 different families. To this point, the data collected from this project has contributed to one peer-reviewed Q1 journal articles.

Florey Syngap-1 Gene Project

The first project funded through the AERF scheme is being conducted by a team from the Florey Institute of Neuroscience and Mental Health, led by Professor Steven Petrou. This team is hoping to establish a sustainable program of “precision medicine” – in other words undertaking research that helps to deliver targeted diagnostic techniques and treatment options for rare genetic conditions of the brain.

The current project funded by the AERF is an important step in this direction – this project is looking at the SYNGAP-1 gene. Mutations in the SYNGAP-1 gene can cause a rare form of early-onset epilepsy commonly associated with developmental delay and intellectual disability.

This research is in the early stages – examining how the gene is expressed and how different treatment approaches work in mice with the SYNGAP-1 mutation. The research, however, is well underway and we are very excited to hear more about the outcomes as the study progresses – watch this space!

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