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Research Topic : inherited epilepsy
Field of Research : Neurology And Neuromuscular Diseases
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  • Researchers (5)
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  • Funded Activity

    In Vitro And In Vivo Functional Characterisation Of Gene Mutations Found In Humans With Epilepsy

    Funder
    National Health and Medical Research Council
    Funding Amount
    $266,500.00
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    Funded Activity

    Morphological And Spectroscopic Study Of Monozygotic Twins Discordant For Epilepsy

    Funder
    National Health and Medical Research Council
    Funding Amount
    $139,079.00
    Summary
    Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imagi .... Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imaging strategies. However, due to individual differences of brain morphology, the significance of such subtle changes can be disputed. Monozygotic twins have an increased similarity of their brain morphology. Therefore, analysis of monozygotic twins where only one twin is affected with epilepy, is a powerful way to characterize significant brain abnormalities. This will provide novel information on the causes of epilepsy relevant to the general population.
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    Practitioner Fellowship

    Funder
    National Health and Medical Research Council
    Funding Amount
    $448,784.00
    Summary
    My aim is to use advanced Neuroimaging to further our understanding of the pathophysiology of brain disorders, in particular Epilepsy, but also Sleep disorders, Schizophrenia, the Dementias. In the case of my main research interest (Epilepsy) it is to red
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    Funded Activity

    A Clinicopathological And Neurophysical Study Of Sensory Peripheral Neuropathies And Restless Leg Syndrome

    Funder
    National Health and Medical Research Council
    Funding Amount
    $98,103.00
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    Funded Activity

    Regulation Of Dendritic Ion Channels And Its Role In Intrinsic Neuronal Excitability In Health And Disease

    Funder
    National Health and Medical Research Council
    Funding Amount
    $402,810.00
    Summary
    Nerve cells are able to regulate their activity to maintain the reliable transfer of information between cells. By conducting detailed electrical and chemical analysis of nerve cells this project will increase our understanding of how nerve cells regulate their activity, and provide important information on how this activity may be altered in brain disorders like epilepsy. The results of this research may also lead to the development of new more effective drugs to treat many brain disorders.
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    Funded Activity

    Sydney Epilepsy Incidence Study To Measure Illness Consequences (SEISMIC)

    Funder
    National Health and Medical Research Council
    Funding Amount
    $694,067.00
    Summary
    Epilepsy is common, costly and neglected. This study is a prospective cohort study of newly diagnosed cases of epilepsy and aims to fill clinical, psychosocial and economic knowledge gaps in epilepsy. The network will use this new evidence for policy recommendations and strategic plans, for health systems and guidelines to improve efficiency and care and to enlighten community-based support programs, education, driving and workplace legislation. This study was developed by a health service, Epil .... Epilepsy is common, costly and neglected. This study is a prospective cohort study of newly diagnosed cases of epilepsy and aims to fill clinical, psychosocial and economic knowledge gaps in epilepsy. The network will use this new evidence for policy recommendations and strategic plans, for health systems and guidelines to improve efficiency and care and to enlighten community-based support programs, education, driving and workplace legislation. This study was developed by a health service, Epilepsy Action, Epilepsy Society of Australia and the George Institute.
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    Funded Activity

    Structural And Functional Consequences Of A Human Nicotinic Receptor Mutation

    Funder
    National Health and Medical Research Council
    Funding Amount
    $112,809.00
    Summary
    Identification of the defective gene underlying a particular form of inherited epilepsy in man, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), now provides the first opportunity to study the basic mechanisms of an inherited epilepsy in man. The responsible mutations affect a subunit of the nicotinic acetylcholine receptor. In this research project, quantitative methods of imaging the brain will be used bridge the gap in understanding which lies between the molecular defect and the .... Identification of the defective gene underlying a particular form of inherited epilepsy in man, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), now provides the first opportunity to study the basic mechanisms of an inherited epilepsy in man. The responsible mutations affect a subunit of the nicotinic acetylcholine receptor. In this research project, quantitative methods of imaging the brain will be used bridge the gap in understanding which lies between the molecular defect and the clinical manifestations of ADNFLE. Involvement of a system of nerve pathways, the mesocortical dopaminergic system, is postulated to explain the preferential susceptibility of the frontal lobe to seizures in ADNFLE. Positron emission tomography will be used to examine changes in neurotransmitter release in the frontal lobe. The molecular defect in ADNFLE also provides a unique opportunity to examine the role of the nicotinic receptor in the development of the human brain and in important aspects of human cognition. Statistical mapping of anatomical variability and high resolution magnetic resonance scans will be used to detect alterations in the anatomical structure of the mesial frontal lobe. Evidence of deficient nicotinic receptor-mediated cognitive effects in ADNFLE will be sought using a battery of psychological tests shown to be sensitive to the effects of nicotine.
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    Funded Activity

    Cellular Changes Due To LRRK2 Parkinsonism

    Funder
    National Health and Medical Research Council
    Funding Amount
    $631,227.00
    Summary
    Parkinson's disease is a progressive, disabling, age-associated neurological disorder with no known cure. Several genes have been identified as causing Parkinson's disease, although mutations in leucine-rich repeat kinase2 (LRRK2) are by far the most common. The studies we propose will identify the cellular proteins that interact with LRRK2 to cause Parkinson's disease. These proteins may be amenable to future therapeutic manipulation.
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    Funded Activity

    A Device For Simultaneous Continuous Acquisition Of EEG And MRI

    Funder
    National Health and Medical Research Council
    Funding Amount
    $179,401.00
    Summary
    We aim to further develop a world-leading method we invented that facilitates the simultaneous, continuous acquisition of the electroencephalogram (EEG - electrical brain waves measured at the scalp) and functional Magnetic Resonance Imaging (fMRI - images the location of brain activity throughout the brain). Combining the two permits non-invasive imaging of human brain function with the exquisite temporal resolution of EEG and the high spatial resolution and brain coverage afforded by fMRI.
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    Funded Activity

    Identification Of Genetic Defects In Muscle Contractile Proteins

    Funder
    National Health and Medical Research Council
    Funding Amount
    $167,167.00
    Summary
    Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease befo .... Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal diagnosis is only possible once the gene causing a disorder and the mutation in an individual family are identified. Identifying the disease-causing mutation may help the common feelings of guilt in the parents if it can be shown that the affected child has a new mutation, and there is nothing the parents could have done to stop their child having the disease. In the past, this Laboratory, the Molecular Neurogenetics Laboratory at the Australian Neuromuscular Research Institute, amongst others, has identified disease genes for the congenital myopathies. Prenatal diagnosis is now possible for those families whose disease-causing mutation has been identified. However the genetic cause of most of the congenital myopathies remains unknown. This Laboratory has become a reference centre for genetic studies of the congenital myopathies, especially the major form called nemaline myopathy. DNA samples have been sent here from around the world for study. This project aims to study this DNA, to identify other disease genes causing the congenital myopathies in order to help the families at risk with these conditions who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases. It clarifies which proteins are involved. It allows studies of the mutated proteins to be undertaken. It makes it possible to understand how the diseases arise allowing future treatment of the conditions.
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