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
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.
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.
New And Improved Treatment Strategies For Neonatal Seizures
Funder
National Health and Medical Research Council
Funding Amount
$883,209.00
Summary
Around 10% of neonates in Australia are diagnosed with seizures each year. Seizures worsen neurodevelopmental outcome following hypoxic brain injury. Despite evidence of the limited effectiveness and potential neurotoxicity of current anti-seizure medication, treatment has not changed for many decades. The objective of this study is to optimise treatment of neonatal seizures with a compound that is effective and does not cause harm, or indeed provides neuroprotection for the compromised brain.
Carbon Dioxide As A Treatment For Seizures In The Newborn
Funder
National Health and Medical Research Council
Funding Amount
$878,389.00
Summary
This study aims to introduce a simple and effective treatment to prevent brain damage from seizures in babies using CO2. Neonatal seizures remain a major clinical problem worldwide and are associated with poor brain outcomes and significant risk of death. Recent trials in human adult epileptics show rapid and effective seizure suppression following the use of CO2. This therapy will significantly impact long-term outcomes for affected babies and reduce the burden of care for families and society.
Febrile Seizures Following Vaccination In Children: How Common Are They And What Is The Long Term Clinical Outcome?
Funder
National Health and Medical Research Council
Funding Amount
$693,779.00
Summary
Seizures following vaccination cause concern for both parent and healthcare providers and in this important study we will measure the risk of febile seizures after vaccines and follow up children who have had a febrile seizure shortly after receiving a vaccine to assess their medical health and developmental outcome. In addition children will be tested to see if they carry one of the known genetic mutations that is asociated with the development of seizures as a potential cause for their seizure ....Seizures following vaccination cause concern for both parent and healthcare providers and in this important study we will measure the risk of febile seizures after vaccines and follow up children who have had a febrile seizure shortly after receiving a vaccine to assess their medical health and developmental outcome. In addition children will be tested to see if they carry one of the known genetic mutations that is asociated with the development of seizures as a potential cause for their seizure following vaccination.Read moreRead less
Improving The Phenotypic Severity Of Intellectual Disability And Seizures Caused By Expanded Polyalanine Tract Mutations In The ARX Homeobox Transcription Factor.
Funder
National Health and Medical Research Council
Funding Amount
$683,622.00
Summary
Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is a gene mutated in X chromosome-linked intellectual disability and seizures. Our study will comprehensively address the basis for improvements to disease outcomes following treatment with steriod horomones in mice modelling these mutations. We will also address the mechanism contributing to disturbed protein function due to these expanded polyalanine tract mutations.
Epilepsy is a debilitating neurological disorder characterised by spontaneous seizures. For a third of epilepsy patients, drugs cannot prevent epileptic seizures from occurring without causing severe side effects. Therefore alternative treatments are needed. This work will develop epileptic seizure warning methods. This will alleviate the stress of randomly occurring seizures by giving patients the chance to move to safety before a seizure occurs, therefore enhancing their quality of life.
Neuroanatomical Correlates Of Susceptibility In A Model Of Genetic Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$329,275.00
Summary
Genetic generalized epilepsy (GGE) is the most common form of epilepsy, but our understanding of the pathogenesis, in particular anatomical effects of genetic mutations, is incomplete. This project represents the first quantitative study of anatomical changes caused by a human GGE mutation. Pilot data show that the fundamental wiring of the cortex is different in GGE brains with obvious implications for epileptogenesis. This study is expected to inspire improved treatment and diagnosis.