Epilepsy is a common disease in the Australian population affecting 3 percent of individuals. It incurs lifelong medical, social and educational costs, and in some cases can be fatal. It is a large burden on public healthcare in Australia. Focal epilepsies are the most common type of seizure that arise from specific parts of the brain. This study has two aims and a future strategy relevant to gene discovery and clinical testing for focal epilepsy.
Unravelling The Genetics Of The Common Epilepsies Using Discordant Monozygotic Twins
Funder
National Health and Medical Research Council
Funding Amount
$673,778.00
Summary
Epilepsy is a common disease in the Australian population affecting 3% of individuals that has a significant genetic contribution. To improve patient care we will study a unique set of identical twins discordant for different types of common genetic epilepsies. Identification of novel genes involved in common epilepsies will provide information relevant to prognosis, recurrence risks and treatment options for patients and their families. It will enhance long established Australian clinical and r ....Epilepsy is a common disease in the Australian population affecting 3% of individuals that has a significant genetic contribution. To improve patient care we will study a unique set of identical twins discordant for different types of common genetic epilepsies. Identification of novel genes involved in common epilepsies will provide information relevant to prognosis, recurrence risks and treatment options for patients and their families. It will enhance long established Australian clinical and research expertise in epilepsy.Read moreRead less
I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such as intellectual disability and autism, I will describe new epilepsy syndromes, and together with gene discovery, implement novel targeted therapies. This translational program will transform clinical practice by informing diagnosis, prognostic and genetic counseling, and lead to targeted precision therapies to improve outcomes for each patient.
Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Cell Swelling And EEG Ripples: Components In The Transformation Of Normal Brain Activity Into Seizure
Funder
National Health and Medical Research Council
Funding Amount
$370,090.00
Summary
Epilepsy is a highly debilitating conditioned and seizures are often poorly controlled. Using a novel multidisciplinary approach, the aim of this proposal is to define the participation of cell swelling and nerve cell brain activity during the start and spread of seizures. This research introduces a novel seizure induction mechanism and provides a paradigm shift in focus for epilepsy research, as well as suggests new pharmacologic targets for seizure-intervention.
Epilepsy: Is It An Inherent State Of Cortical Hyper-excitability?
Funder
National Health and Medical Research Council
Funding Amount
$370,640.00
Summary
Transcranial magnetic stimulation (TMS) is a safe way to study the human brain and changes associated with epilepsy. I will use TMS to examine the effect of refractory epilepsy and recurrent seizures on the brain over time and how this differs to well controlled epilepsy and provoked isolated seizures. I will also explore the potential of using TMS to predict responsiveness to medication soon after starting treatment.
Monitoring Cortical Excitability Using A Probing Stimulus For Epileptic Seizure Anticipation
Funder
National Health and Medical Research Council
Funding Amount
$392,997.00
Summary
Millions of people with epilepsy suffer from seizures that cannot be controlled by medication. Life-threatening seizure may strike at any time, restricting patients from leaving their homes due the constant fear of a seizure. This research offers hope for people with epilepsy by developing a method of anticipating seizures. Successful outcomes will not only provide a warning of impending seizures, but also an opportunity for intervention, thereby preventing seizures.