Tuberous Sclerosis And Epilepsy: Using Resected Tissue To Understand Pathogenesis And Inform Management
Funder
National Health and Medical Research Council
Funding Amount
$339,261.00
Summary
Epilepsy is the commonest neurological disorder in childhood and seizures cannot be fully controlled by medications in 30%, often leading to developmental consequences. A major cause of drug-resistant epilepsy is a malformation of the brain’s surface. Surgery is sometimes used to remove these lesions to treat the epilepsy. We will study this tissue to understand its architecture, genetic basis and how it causes seizures. Our results will guide treatment including the best surgical approach.
Novel MRI Approaches To Map Focal Cortical Dysplasia In Focal Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$465,489.00
Summary
Focal cortical dysplasia (FCD) is a common cause of focal epilepsy that is resistant to medication. When it can be identified clearly, surgical removal can cure the epilepsy but better methods of detecting and mapping FCD are required because standard imaging techniques are negative in 30% of patients. In this project, we plan to develop new MRI methods to diagnose FCD, thereby creating a new MRI-based diagnostic tool for patients with focal epilepsy who are potential surgical candidates.
Non-invasive Methods For Localising Epileptic Brain Activity
Funder
National Health and Medical Research Council
Funding Amount
$662,889.00
Summary
Drug-resistant epilepsy, which arises from areas of damaged brain surface, affects 20 million people. A major challenge is the accurate identification of the location of seizure origin. We will measure the brain's electrical activity (EEG) and changes in blood oxygenation (fMRI), and combine both using advanced mathematical techniques in order to non-invasively pinpoint damaged regions for targeted removal or implantation of a seizure control device.
Disruption Of The Ability To Simulate One’s Personal Future: Insights From Epilepsy And Implications For Neurosurgical Planning And Presurgical Counselling
Funder
National Health and Medical Research Council
Funding Amount
$353,711.00
Summary
The human memory system supports not only recollecting the past but also imagining the future (prospection). This is an important skill, enabling us to envision the consequences of alternative courses of action. Patients with temporal lobe epilepsy (TLE) frequently experience memory problems, suggesting that they will show parallel difficulties with prospection. We will study prospection in TLE patients before and after temporal lobe surgery, and the clinical implications thereof.
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.
Unveiling The Origin Of Munc18-1 And Alpha-synuclein Co-aggregation At Nanoscale
Funder
National Health and Medical Research Council
Funding Amount
$620,005.00
Summary
Our recent work on Munc18-1 mutations leading to a severe form of human early infantile epileptic encephalopathy (EIEE) led us to uncover a critical role for Munc18-1 in controlling the formation of toxic protein aggregates containing ?-Synuclein. Targeting the Munc18-1 ?-Synuclein interaction may have therapeutic values not only for EIEE but also for other neurological diseases characterised by protein aggregations.
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
Deep Brain Stimulation For Severe Generalised Epilepsy Of Lennox-Gastaut Phenotype
Funder
National Health and Medical Research Council
Funding Amount
$897,972.00
Summary
Deep Brain stimulation (DBS) is an emerging treatment for epilepsy, recently approved for use in Australia on the basis of trials in focal epilepsy showing benefit. The role of DBS in generalised epilepsy is currently unclear. This study tests the effectiveness of DBS in Lennox-Gastaut Syndrome, a severe, medication-resistant generalised epilepsy syndrome.
Seizures And Carbon Dioxide – A Study Of Respiratory Acidosis As A Cause For Seizure Termination And Trial Of Carbogen As An Anti-epileptic
Funder
National Health and Medical Research Council
Funding Amount
$317,582.00
Summary
Although much is known about epilepsy, the reason a seizure stops is not clear. A rise in the acidity of the blood, mainly due to a rise in carbon dioxide from breathing less deeply, may well contribute. Currently the standard treatments given in hospital to stop seizures are sedatives. Although effective, this sedation can need Intensive Care treatment. We aim to develop a safe, rapid, non-sedating way to treat seizures using a small amount of carbon dioxide in oxygen.
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.